<![CDATA[Shwachman-Diamond]]>https://www.sdsalliance.org/blogRSS for NodeFri, 20 May 2022 11:01:44 GMT<![CDATA[SDS & Science Snapshots (2022-05-08)]]>https://www.sdsalliance.org/post/sds-science-snapshots-2022-05-086278648d79bfa0cc43ae68dbMon, 09 May 2022 01:03:56 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceIn this issue: Dr. Bezzerri provides an update on a therapeutic approach targeting premature termination codon (PTC) mutations in SDS, or the c.183-184TA>CT mutation in the SBDS gene to be more specific.

Welcome to our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email ,connect@SDSAlliance.org or message us on Facebook! This is all for you!

Progress on the development of novel therapies targeting the c.183-184TA>CT mutation in the SBDS gene.

Thank you Dr. Valentino Bezzerri for the detailed overview and summary, to put your latest publication into context.

What is the significance of the c.183-184TA>CT mutation in SBDS gene?

A large percentage of SDS patients carry the nonsense mutation c.183-184TA>CT in addition to the most common … “splice site” mutation. For instance, the c.183-184TA>CT mutation is present in more than half ( 56%) of SDS patients in the Italian SDS registry. This genetic variant leads to the generation of a premature termination codon (PTC) on the SBDS mRNA, which leads to a stop of protein translation at the 62nd amino acid position (K62X). mRNA that harbor such nonsense mutations are generally unstable and are rapidly degraded by a cellular mechanism known as nonsense mediated decay (NMD). If any mRNA could withstand the NMD, the resulting protein would be truncated and lose most (if not all) its function.

Is there any way to address this problem?

Stop codons can occasionally be overridden by near-cognate aminoacyl-tRNA, whose anticodon is complementary just for two of the three nucleotides. This process has been defined as translational read-through and may lead to abnormal termination of translation in 0.001-0.1% of total neo-synthesized proteins. Interestingly, this process is able to endogenously promote the read-through of PTC in 0.01-1% of cases. Even though this process is quite ineffective, it served to prove that mutations generating PTC may be corrected.

Could this mechanism be exploited pharmacologically with potential clinical benefit?

Aminoglycosides are a class of natural or semisynthetic antibiotics derived from actinomycetes. In eukaryotic cells, aminoglycosides may promote the binding of a near-cognate tRNA to a PTC, displacing eRF1, thus resulting in nonsense mutation suppression. The aminoglycoside geneticin (G418) was initially investigated in cystic fibrosis (CF) cell models harboring nonsense mutated CFTR gene. Further studies demonstrated the efficacy of aminoglycosides G418 and gentamicin in restoring a significant amount of functional CFTR and dystrophin proteins in CF and Duchenne muscular dystrophy (DMD), respectively. This reports therefore represented the proof of concept that the development of translational read-through inducing drugs (TRIDs) is feasible. Unfortunately, severe adverse effects caused by prolonged treatments with aminoglycosides, including auditory and vestibular toxicities have been reported, limiting the widespread clinical use of aminoglycosides for nonsense suppression therapy.

Are there any success stories for these types of drugs?

Ataluren (PTC124) was launched in 2007 by PTC Therapeutics (NJ, USA), as a potent TRID, without antibiotic properties. Compared with classical aminoglycosides, ataluren may promote a more selective readthrough of PTC, without affecting endogenous stop codons. Furthermore, ataluren has shown less toxicity and better safety than aminoglycosides. The use of ataluren as a potential therapeutic agent for genetic disorders has been early proposed for the treatment of DMD and CF. Most importantly, ataluren has been approved for the treatment of DMD in Europe. Data from clinical trials showed that chronic ataluren treatment is beneficial to DMD patients undergoing standard care, because it delays the progression of ambulation impairment and the worsening of pulmonary and cardiac functions. Interestingly, clinical studies revealed that the best results are observed in younger individuals, suggesting major benefits of early ataluren administration.

https://www.youtube.com/watch?v=gUFVvRN-CTU&t=438s

Why is ataluren not widely used?

Despite promising pre-clinical results, ataluren unfortunately failed in clinical studies of CF. The clinical development of ataluren for CF was therefore discontinued. These premises highlight that ataluren clinical benefit in people with CF may be highly variable. Consistent with this, also approximately 39% of patients with DMD did not exhibit protein resynthesis after treatment in a Phase 2a clinical trial.

The major pitfall of ataluren readthrough efficacy remains therefore its variable efficacy, which may depend on the sequence of the PTC (UAA

Has anyone tried this strategy on SDS?

To address Ataluren’s variable efficacy, an Italian research team headed by Dr. Valentino Bezzerri and Dr. Marco Cipolli (Cystic Fibrosis Center, University Hospital of Verona, Italy) tested a panel of ataluren analogues with improved in vitro efficacy. The authors tested the efficacy of analogues NV848, NV914, NV930, NV2445, and 5i on the restoration of SBDS protein expression in SDS cell models, in order to improve the clinical performance of this class of drugs. Second-generation analogues NV848, NV914, and NV930 were optimized from the lead compound NV2445, which showed promising results in correcting nonsense mutated CFTR expression in vitro, whereas the 5i compound was directly derived from ataluren. Molecule NV848 can restore SBDS protein synthesis in vitro to the same extent as ataluren, improving in vitro myelopoiesis, promoting neutrophil maturation and reducing the expression of dysplastic markers in these cells.

In addition, NV848 may have some advantages over ataluren, since it is quite hydrophilic, thus facilitating the selection of administration routes, and did not show any appreciable toxicity up to 1mM concentration in zebrafish experiments. Most importantly, NV848 has shown to be the best candidate for further development in SDS therapy, due to superior absorption, distribution, metabolism, and excretion (ADME) properties, compared to ataluren and other analogues.

There are three scientific publications on PubMed on this topic. You can find the latest article by Dr. Bezzerri, below, published last month.

Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome.

Bezzerri V, Lentini L, Api M, Busilacchi EM, Cavalieri V, Pomilio A, Diomede F, Pegoraro A, Cesaro S, Poloni A, Pace A, Trubiani O, Lippi G, Pibiri I, Cipolli M.Biomedicines.

2022 Apr 12;10(4):886.

doi: 10.3390/biomedicines10040886.

PMID: 35453634

https://pubmed.ncbi.nlm.nih.gov/35453634/

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<![CDATA[Ángel Leonardo's SDS Story from Mexico [Spanish and English]]]>https://www.sdsalliance.org/post/sds-story-angel-leonardo-mexico626b18e5095d0a8d3f216417Thu, 28 Apr 2022 23:15:27 GMTEszter Hars, Ph.D., President and CEO, SDS Alliance"My parents taught me that apart from receiving help, I must also help. I have a big heart and I am a teacher of life for my family, a warrior and the best gift of life for my parents." Angel Leonardo's mom Angli shares on his behalf. Read this beautiful family's story from Mexico, here.

[Original language: Spanish]

Hola, me llamo Ángel Leonardo, soy un bebé muy deseado y mexicano, nací en Cancún. En el país Mexico, hay un gigantesco desconocimiento de Shwachman Diamond. Casi no hay datos de dos niños más con Sds de hace diez años, yo era el único registrado en Mexico y ahora pude encontrar y orientar a una segunda niña en el norte de mi país, pero obvio debe haber muchos más si en Mexico somos casi 130 millones de personas. Este gran desconocimiento y falta de diagnóstico es lo que me ah hecho sufrir muchos estudios de más, dolorosos y repetitivos para encontrar que tenia. Nací de peso bajo y talla pequeña, tuve citomegalovirus intrauterino, y nací con anemia severa, y neutropenia grave, por lo cual pensaron tuve infección intrauterina y me llenaron de antibióticos pero no funciono.

No podía succionar leche, tenía muchos cólicos, me quede internado medio mes en hospital pero todo lo que comía me hacía daño y tenía popos muy aguadas y cólicos por horas y horas. Como no supieron que tenía, me mandaron a casa con extremos cuidados porque decían que si me quedaba más tiempo en el hospital corría riesgos de infectarme de algo más. Me confundieron mi insuficiencia pancreatica grave con alergia a la proteína de la leche de vaca, así que mi mamá hizo dieta especial y libre de lácteos para seguirme amamantando pero la grasa de la leche me seguía causando mucho dolor, los doctores decían que eso eran normal, había niños así, pero lloraba más de seis horas al día, me despertaba toda la noche, y sufría mucho.

Los primeros seis meses de vida tuve anemias severas por lo que me hicieron 4 transfuciones sanguíneas, después de los seis meses no volví a tener anemia, pero si seguían las neutropenias, por lo cual se me mando desde los 3 meses de edad filgastrim o neupogen inyectada por mi mamá semanalmente. Viajaba cada mes a otro estado y a la capital del país para ver médicos, sabían que tenía una falla medular pero en Mexico no existe el estudio genético para saber que tipo de falla medular tenía, así que por rifas y colectas logramos pagar el estudio genético, y se envío la muestra genética a Estados Unidos, de ahí pudimos saber que era síndrome de Shwachman Diamond, sin mutación, la versión más común, gracias a Dios.

Pero hasta los 8 meses o más entendieron que no tenía alergia a la proteína de la leche de vaca si no problemas en hígado y páncreas, y mucha falta de apetito por el mismo síndrome, así que por fin yo empecé a usar enzimas, creon, pero se niveló y encontramos las cantidades necesarias hasta que tenía como año y medio de edad.

Querían en el hospital de especialidades mejor capacitado del país, en la capital, obligatoriamente hacerme transplante de médula, pero mi mamá sentía en su corazón que era algo muy agresivo como para usarlo para prevenir la leucemia, y el citomegalovirus podía afectarme en las quimioterapias, solo teníamos a mi papá de fonador y eso significa solo 50% de probabilidad de éxito, y no dejaban que buscáramos otro donador, o usar ombligo, ellos decían que nuestra mejor opción era mi papá, por eso volvimos a conseguir dinero, tener deudas y mucho esfuerzo e hicimos una Inter consulta por internet con el hospital de Boston, donde hay especialistas en Shwachman Diamond, y nos explicaron que el transplante solo se autoriza si cumple con los requisitos que son: anemias y transfusiones de sangre continuas, muchas enfermedades graves o que se encuentren células cancerígenas en la biopsias de médula ósea, de lo cual yo solo tenia neutropenias, y problemas en deformidad de el tórax, hígado e insuficiencia pancreatica, y esas tres ultimas no cambiarían aún después del transplante de médula.

Boston nos explicó que el neupogen o filgastrim solo son de rescate cuando el niño se enferma, no un tratamiento a largo plazo a excepción de que me enfermara demasiado o mis neutropenias fueran muy graves, ya que todo medicamento tiene efecto secundario, y esta vacuna tiene un acelerador celular,así que si está en mi futuro la leucemia también la va a acelerar a desarrollarla antes.

Así que suspendimos el transplante pues por fin entendimos un poco mejor el síndrome, mis papás me siguen cuidando muchísimo, y tratando de que los días buenos sean los mejores del mundo, hacerme muy feliz y disfrutar día a día. Soy un niño muy sensible y noble, pero también amo reír, correr y ver libros, entendimos que tener una enfermedad rara no define quién soy, soy más que una enfermedad, soy un ser humano inteligente, cariñoso, único, y que no me debe limitar una enfermedad para ser feliz, tengo un nombre, no soy solo el familiar o El Niño enfermo, soy muy consentido por mis papás y familia y ya en seis meses tendré 4 años, empiezo a tenerle menos pánico a los doctores, a la gente y a la vida afuera, pero por el covid seguimos con filgastrim, y dios quiera pronto podamos suspender la inyección para ver mis reales neutropenias y vida sin esta inyección.

Tengo mi página en Facebook, Ángel Leonardo enfermedad Shwachman Diamond, tik tok ángel_leo_shwachmandiamond, y tenemos una página o grupo de apoyo para mexicanos y latinos en Facebook, síndrome de Shwachman-Diamond-apoyofamiliar-americalatina, para apoyar a familias que empiezan, dudas, o actualización de información (https://www.facebook.com/groups/844701606198176). Mis papás me enseñaron que aparte de recibir ayuda debo ayudar, tengo un gran corazón y soy un maestro de vida para mi familia, un guerrero y el mejor regalo de la vida para mis papás.

[English translation]

Hello, my name is Ángel Leonardo. My parents had a strong longing to have me, and finally I was born in Cancún, Mexico. In Mexico, there is very little known about Shwachman Diamond Syndrome. There is almost no record of any patients, except for two children with SDS within the past ten years. I was the only one registered in Mexico and only recently have I been able to connect with a second child (a girl) in the north of my country, but obviously there must be many more since Mexico has close to a 130 million people. This lack of knowledge and information has led to delays in my diagnosis and to more suffering through many more, painful and repetitive tests to find out what I had. I was born with low weight and small size, I had intrauterine cytomegalovirus, and I was born with severe anemia and severe neutropenia. They thought I had an infection in utero and filled me up with antibiotics after I was born, but it didn't work.

I couldn't drink milk, I had a lot of cramps, I was in the hospital for half a month but everything I ate hurt and I had very watery stools and cramps for hours and hours. Since they didn't know what I had, they sent me home with great concern because they said that if I stayed longer in the hospital I risked catching something else. They mistook my severe pancreatic insufficiency for an allergy to cow's milk protein, so my mom went on a special dairy-free diet to continue breastfeeding, but the milk fat was still causing me a lot of pain.

The doctors said that was normal, there were more children like that, but I cried more than six hours a day. I woke up all night and suffered a lot. The first six months of life I had severe anemia so they gave me 4 blood transfusions. By six months of age, I did not have anemia anymore, but the neutropenia continued. They gave me filgrastim or neupogen starting at the age of 3 months, as injections administered by my mother weekly. I traveled every month to another state and to the capital of the country to see the doctors. They knew that I had a bone marrow failure disorder, but in Mexico there is no genetic study to know what type of bone marrow failure I had.

My family organized raffles and fundraisers, so that we could pay for genetic testing. My sample was sent to the United States, and we learned that it was Shwachman Diamond syndrome, without mutation, the most common version, thank G*d. It took over 8 months or more until they understood that I did not have an allergy to cow's milk protein, but liver and pancreas problems, and a lot of lack of appetite due to the same syndrome, so I finally started using enzymes, Creon. It stabilized and we found the right dose, but not until I was a year and a half old.

They wanted me to have a bone marrow transplant at the best specialty hospital in the country, in the capital, but my mother felt in her heart that it was too aggressive to use it to prevent leukemia, and the cytomegalovirus could affect me. For a transplant, I don’t have any matches. We only had my father as a potential donor and that means only a 50% chance of success. They would not let us look for another donor, nor use an umbilical cord option, and they maintain that our best option would be my father. That is why we resumed fundraising, borrowed funds, and put in a lot of effort, so we could proceed with an online consultation with Boston Children’s Hospital, where there are specialists for Shwachman Diamond Syndrome. They explained to us that the transplant is only recommended if it meets the following requirements: continuous anemia and transfusions of blood, many serious infections, or cancer cells found in bone marrow biopsies. I “only” have neutropenia, problems with bone deformity in my chest, liver issues, and pancreatic insufficiency. Except for neutropenia, the latter issues would not change even after the marrow transplant. Boston explained to us that neupogen or filgastim are just rescue drugs when the child gets sick, not a long-term ongoing treatment, unless I get too sick (serious infections) or my neutropenia is very severe. That’s because every drug has side effects, and my shots could affect [stress my bone marrow cells], so that if leukemia is in my future, that could accelerate and develop sooner. We suspended the transplant plans because we finally understood the syndrome a little better.

My parents continue to take great care of me, and they try to make each day the best in the world, make me very happy and enjoy every day. I am a very sensitive and sweet boy, but I also love to laugh, run, and read books. We understood that having a rare disease does not define who I am. I am more than a disease - I am intelligent, affectionate, a unique human being, and that does not limit my happiness. I have a name, I am not just the sick relative or the sick child, I am very loved by my parents and family. In six months, I will be 4 years old. I am starting to have less panic with doctors, with people and life outside. Due to covid we continue with filgrastim. G*d willing, I hope we can soon stop the injections to see how my neutrophils can keep up, and experience life without this injection.

I have a page on Facebook (https://www.facebook.com/Leonardo.enfermedad.Shwachman.Diamond), TikTok (angel_leo_shwachmandiamond) and we have a support group on Facebook for Spanish speaking families from Latin America and beyond) (https://www.facebook.com/groups/844701606198176) all in Spanish to support families who are new to SDS, need support, or information and updates.

My parents taught me that apart from receiving help, I must also help. I have a big heart and I am a teacher of life for my family, a warrior and the best gift of life for my parents.

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<![CDATA[A Blast from the Past: Cresta's SDS Story from the US]]>https://www.sdsalliance.org/post/sds-story-cresta-usa6269d2b9dedbbecd81f8cbb4Wed, 27 Apr 2022 23:57:39 GMTEszter Hars, Ph.D., President and CEO, SDS Alliance"I look forward to many more years and to support research to aid SDS patients in the fight against leukemia and Myelodysplastic Syndrome." concludes Cresta. Read her and her family's story, here.

old photograph of Cresta as a toddler on her mom's lap

This is the Story of me: Cresta Morris. I have Shwachman Diamond Syndrome (SDS).

I was born and raised in Bend, Oregon. My parents, Ken & Celeste Harmon, had two other children with SDS: Mical (deceased in 1976) & and another girl (born in 1980). My parents were said to have been missing the same gene which would cause SDS in all three of their children. My sister Mical was 13 months when she died; it was revealed by an autopsy that she had died of Shwachman Diamond Syndrome. My Mom was 6 months pregnant with me when Mical died.

Three months after I was born my parents were told that I had SDS as well. At 11 months old, my parents tracked down Dr. Harry Shwachman himself and we flew to Boston to see him at Boston Children’s Hospital.

This in itself was a remarkable event. The whole community came together to make the trip possible for my family.

By that time, I had started exhibiting the same symptoms that my sister had before she died. My parents wanted to get answers – they wanted to know that I would be able to live. Dr. Shwachman put me on Cotazym (“Enzymes”) for food absorption/digestion for my pancreatic exocrine insufficiency (PEI). Dr. Shwachman told my parents the most important thing was for me to avoid contracting measles, mumps, pneumonia, or other serious illnesses and that if I made it to my 3rd birthday, the real big problems were over.

Dr. Shwachman told my parents the most important thing was for me to avoid contracting measles, mumps, pneumonia, or other serious illnesses and that if I made it to my 3rd birthday, the real big problems were over.

I just turned 46. My parents and I are so blessed to have each day. I made it past 3 years old and beyond. I am married and have 2 healthy girls. I work as an admin assistant at our local community college. I still have some health issues, but overall live a happy and full life.

I am of short stature: 5’1.5” (whereas my dad is 6’1” and mom is 5’8”); I take pancreatic enzymes (Creon) to aid in the digestion/absorption; I am on a dairy free diet, as dairy is hard for me to digest and entails profuse gas and stomach problems; I have neutropenia & low white blood cell counts; my bone marrow is being monitored closely; I have weak bones and issues with the bones in my knees and shoulder, plus recurring arthritis & cartilage issues.

In 2017, I was diagnosed with a squamous cell carcinoma on my tonsils which was treated successfully. That is how I found a doctor in Seattle, WA who specializes in SDS. Her name is Dr. Sioban Keel, a hematologist at Seattle Cancer Care Alliance. I go to Seattle once a year to see her for my annual bone marrow biopsy and to donate samples for SDS Research.

A casual current photo of Cresta
I look forward to many more years and to support research to aid SDS patients in the fight against leukemia and Myelodysplastic Syndrome.

Sincerely,

Cresta Morris

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<![CDATA[Mike's SDS Story from The Netherlands [Dutch and English]]]>https://www.sdsalliance.org/post/sds-story-mike-irma-netherlands6268741911d4b1e24965eadaTue, 26 Apr 2022 22:47:15 GMTEszter Hars, Ph.D., President and CEO, SDS Alliance"I hope to be able to support and help people where necessary with my story." Shares Mike's mom Irma. Read this Dutch family's story, here.

[Original language: Dutch]

Mijn naam is Irma van Dijk ,moeder van 2 kinderen waarvan van Mike (29 jaar)die geboren is met SDS.Wij wonen in Nederland.

Mike is 16 dagen te laat geboren met de navelstreng om zijn hals.47 cm en 2485 gram. Hij had een slechte start,maar mocht na 10 dagen in het ziekenhuis naar huis. Doordat hij niet groeide , dunne ontlasting en bacteriële infecties is hij met 9 maand gediagnosticeerd met SDS. Met 1,5 jaar kreeg hij sondevoeding.Dat heeft bijna 8 jaar geduurd. De eerste 4 jaren waren vreselijk,ziekenhuis in en uit.Longontstekingen en bacteriële infecties waren er constant. Door continu antibiotica ging dit beter.Voor de pancreassufficientie kreeg hij pancrease capsules.

Hij ging naar een school voor zieke kinderen in het lager en voortgezet onderwijs.

Door zijn autistisch gedrag is het nog steeds moeilijk om vrienden te maken en doordat hij niet erg zelfstandig is woont hij nog steeds bij ons. Mike heeft al sinds 7 jaar een vaste baan in de logistiek en heeft het erg naar zijn zin. Fijne collega’s en een werkgever met begrip voor zijn ziekte. Mike is nu 155 cm en vind dit lastig maar kan hier nu beter mee omgaan dan vroeger.

Hij rijd auto en dat is zijn passie.

Elke 2 jaar krijgt hij een beenmergpunctie,en om het half jaar wordt zijn bloed gecontroleerd. De controle’s in het ziekenhuis zijn nu ook minder dan vroeger.

Ik hoop met mijn verhaal mensen te kunnen steunen en helpen waar nodig.

[English translation]

My name is Irma van Dijk, mother of 2 children. One of them, Mike (29 years old), was born with SDS. We live in the Netherlands.

Mike was born 16 days late with the umbilical cord around his neck. 47 cm (18.5 inches) and 2485 grams (5.5 lbs). He had a rough start, but was allowed to go home after 10 days in the hospital.

He was diagnosed with SDS at 9 months of age due to lack of growth (failure to thrive), loose stools and bacterial infections. At 1.5 years he received a feeding tube. That lasted almost 8 years.

The first 4 years were terrible, in and out of hospital. Pneumonia and bacterial infections were constant. Continuous (prophylactic) antibiotics made this better. For the pancreatic insufficiency he was given pancreatic [enzyme] capsules.

He went to a school for [special ed] children in primary and secondary education.

Due to his autistic behavior it is still difficult [for him] to make friends. And because he is not very independent, he still lives with us. Mike has had a steady job in logistics for 7 years and is enjoying himself very much. Great colleagues and an employer who understands his illness.

Mike is now 155 cm (5.1 ft) [tall] and finds this [short stature] difficult but can now deal with this better than before. He drives a car and that is his passion.

He gets a bone marrow biopsy every 2 years, and his blood is checked every six months.

The checks-ups [and admission] in the hospital are now also less than before.

I hope to be able to support and help people where necessary with my story.

I hope to be able to support and help people where necessary with my story.
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<![CDATA[Dr. Eszter Hars chosen by The Milken Institute to join FasterCures LeaderLink Program]]>https://www.sdsalliance.org/post/milken-institute-fastercures-leaderlink6264659ba91aeb873e70d0aaSat, 23 Apr 2022 21:02:00 GMTEszter Hars, Ph.D., President and CEO, SDS Alliance

SDS Alliance’s President and CEO, Eszter Hars Ph.D., has been chosen by The Milken Institute to join the FasterCures LeadersLink Program. LeadersLink is a highly competitive program designed for patient-centered nonprofit leaders to find “faster cures” for their diseases. Dr. Hars was selected from a large, exceptionally well-qualified pool of candidates, as one of six LeadersLink winners, who will be provided access to a variety of expertise — from patient data resources to drug development — through the network of experts at the Milken Institute. Read more ,here.

“Advancing a promising scientific discovery to a viable treatment option requires long-term coordinated efforts from leaders across the biomedical ecosystem. Leaders from patient-centered nonprofits play a unique role in these efforts: they can leverage financial resources and data from the patient community to accelerate research that will have the most meaningful impact on patient lives — research that might not have progressed without their intervention.” says FasterCures

This year’s theme for the program is building patient data resources, which has been the focus of the SDS Alliance since its inception two years ago. As part of the LeadersLink program, Dr. Hars and SDS Alliance will further the SDS community's top priorities through a capstone project, mentorship, a series of in-person convenings, and virtual collaboration.

“I am incredibly grateful for this opportunity to work with The Milken Institute. The connections to the mentors and experts are priceless. It is a complex endeavor to find cures and we need to strategically leverage professional expertise every step of the way. I cannot wait to put all the new learnings into practice. As a community, we can move so much faster when we know exactly what to do and how to do it.” says Dr. Hars.

About the Milken Institute

The Milken Institute is a nonprofit, nonpartisan think tank that helps people build meaningful lives in which they can experience health and well-being, pursue effective education and gainful employment, and access the resources required to create ever-expanding opportunities for themselves and their broader communities. Our Approach: We catalyze practical, scalable solutions to global challenges by connecting human, financial, and educational resources to those who need them. We leverage the expertise and insight gained through research and the convening of top experts, innovators and influencers from different backgrounds and competing viewpoints to construct programs and policy initiatives. For more information, visit ,https://milkeninstitute.org/.

https://youtu.be/O2swibP0Xtw]]>
<![CDATA[SDS & Science Snapshots (2022-03-20)]]>https://www.sdsalliance.org/post/sds-science-snapshots-2022-03-2062389b543cea075110d3bf4bSun, 20 Mar 2022 04:00:00 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceIn this issue: Report of a new variant in DNAJC21 associated with SDS like symptoms; Plus, new FDA Guidance on Patient-Focused Drug Development

Welcome to our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email ,connect@SDSAlliance.org or message us on Facebook! This is all for you!

Report of a new variant in DNAJC21 associated with SDS like symptoms

As most of you are aware, over 90% of SDS is caused by bi-allelic mutations in the SBDS gene. We covered that it a recent Snapshots issue. However, there are a few other genes that are implicated in SDS. Except for EFL1, there is no consensus among the science and medical experts whether the syndromes caused by the other genes should be called classic SDS, or rather SDS-like syndromes. DNJC21 is one such gene. It is involved in the pathway of ribosome biogenesis, i.e. the making of active ribosomes. More specifically, it seems to play an important role in building the larger (60S) subunit of the ribosome, ensuring that the "exit tunnel", which is a specific part of it, is properly formed.

Just to give you a rough idea about the complexities involved in ribosome biogenesis - with a large set of proteins working together to make it happen - see this figure from Dr. Warren's article from 2018. No, don't memorize it! Just notice all the different proteins and steps involved in building the 60S large subunit alone.

Back to this week's publication news. Last week, a collaboration between researchers from Turkey, the US, and the UK identified a new mutation in DNAJC21 that seems to lead to an SDS-like syndrome. DNAJC21 has been implicated in SDS before. What is new here is that the new mutation is in a region of the protein that has previous not been known to be important in this pathway / ribosome biogenesis.

You can find the full article, below.

A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.

Alsavaf MB, Verboon JM, Dogan ME, Azizoglu ZB, Okus FZ, Ozcan A, Dundar M, Eken A, Donmez-Altuntas H, Sankaran VG, Unal E. Br J Haematol. 2022 Mar 17. doi: 10.1111/bjh.18112. Online ahead of print. PMID: 35298850

https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.18112

New FDA Guidance on Patient-Focused Drug Development

The U.S. Food and Drug Administration recently released guidance for industry and other stakeholders - Patient-Focused Drug Development: Methods to Identify What Is Important to Patients.

What is a Guidance?

"FDA guidances are documents that explain the agency’s interpretation of, or policy on, a regulatory issue. The FDA prepares guidances primarily for industry, but also for other stakeholders and its own staff, and uses them to address such matters as the design, manufacturing, and testing of regulated products; scientific issues; content and evaluation of applications for product approvals; and inspection and enforcement policies.

Although guidances are not legally binding, they show stakeholders one way to reach their regulatory goal. However, stakeholders are free to use other approaches that satisfy the relevant law and regulations. Recently, FDA published a report on how to improve the processes that make these important documents available." ~ says the FDA.

New Guidance:

Patient-Focused Drug Development: Methods to Identify What Is Important to Patients
Guidance for Industry, Food and Drug Administration Staff, and Other Stakeholders

This is a must-read for all stakeholders - including us - involved in the drug development process. You can download the entire document, here.

Thank you to the FDA and all the stakeholders involved in developing this guidance to improve the process and outcomes for patients in need of treatments.

Beyond just reading it, we are proud to share that we have co-signed a letter containing specific suggestions to improve the guidance -- to be more helpful for the patient advocacy community.

And to make this rather long document more palatable for all of you, several of our friends in the rare disease community came together to read it out loud for you all. Thank you Kif1A.org for putting it all together!

https://youtu.be/oCIY4v78-1c

https://youtu.be/oCIY4v78-1c

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<![CDATA[SDS & Science Snapshots (2022-03-13)]]>https://www.sdsalliance.org/post/sds-science-snapshots-2022-03-13622e9aa0d9549e3c66293646Sun, 13 Mar 2022 05:00:00 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceIn this issue: New report this week about COVID and COVID-vaccine tolerance in SDS patients; Plus, what is HLA and a Haplo-transplant, inspired by a case report of a Haplo-transplant in Japan

Welcome to our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email ,connect@SDSAlliance.org or message us on Facebook! This is all for you!

New report published last week about COVID and COVID-vaccine tolerance in SDS patients

The COVID-19 poses a significant risk to patients with various chronic medical conditions. It has been a big question since the beginning of the pandemic to what extent SDS patients are at risk, in particular as SDS can cause patients to be immunocompromised due to malignancy or bone marrow failure (BMF). Because patients with SDS can experience neutropenia due to BMF, they carry a higher risk for serious infections - at least bacterial origin - compared with the general population. In this new report, the authors investigate the incidence and severity of COVID-19 in the population of patients with SDS.

Participants in the North American SDS Registry received a survey in the summer of 2021. 73 participants responded. Answers were anonymous.

  • 10 participants experienced COVID-19 All participants who developed COVID-19 were symptomatic of infection, with the most common symptoms being respiratory, such as congestion or cough (70%), and fever (60%). The median duration of symptoms was 4.5 days. One of 10 patients required hospitalization, but did not require supplemental oxygen. Most reported having a short duration of symptoms that did not require hospitalization or result in serious virus-related complications.
  • 18 participants received a COVID-19 vaccine, and actually all of them received two mRNA vaccine doses. Arm pain was the most common side effect (66.7%), followed by fatigue (50%), fever and/or chills (38.9%), and muscle aches (33.3%). Five of the 18 recipients (27.8%) reported experiencing no side effects.

The authors conclude: "Most patients reported a short clinical course with few requiring COVID-19–directed therapy, and only one requiring hospitalization; none experienced significant complications or severe cytopenias. However, these results cannot be generalized to patients with more severe comorbidities, and the relatively small number of patients described limits our ability to comment on risk of developing serious COVID-19 compared with the general population"

Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.

Galletta TJ, Loveless SK, Malsch MM, Shimamura A, Myers KC. Pediatr Blood Cancer. 2022 Mar 6:e29647. doi: 10.1002/pbc.29647. Online ahead of print. PMID: 35253346

https://onlinelibrary.wiley.com/doi/10.1002/pbc.29647

What is HLA? What is a Haplo-transplant?

Bone marrow or stem cell transplants are always on the mind of the SDS community, as SDS can make it necessary either due to causing bone marrow failure or MDS/leukemia. If it comes to that, many patients rely on the generosity of stem cell donors who sign up with special registries and volunteer to donate stem cells if a patient in need matches with their HLA type. However, many patients can't find a match.

More information about the need and donation process is available on our website, ,,here.

HLA stands for human leukocyte antigens. HLA are proteins—or markers—on most cells in the body. Our immune system uses HLA to see which cells belong in our body and which do not. These markers are critical for stem cell transplants. The closer the donor's and recipient's HLA type match (are the same), the more likely it is for the recipient to accept the new cells and the new cells not to cause complications (such as Graft versus Host Disease (GvHD)) in the recipient's body. That's why in preparation for a bone marrow transplant, the medical team performs a very thorough search and analysis of potential donors.

https://youtu.be/YVer3lUv6HQ

Unfortunately, many patients in need of a stem cell transplant don't have a suitable donor - a donor who's HLA type matches with theirs nearly identically - in their family or in the general population/ stem cell registries. The chances of this happening are particularly high in populations of ethnic minorities and mixed race patients.

This is where haploidentical matches/transplants are coming in. A haploidentical transplant is a type of allogeneic transplant. It uses healthy, blood-forming cells from a half- matched donor to replace the unhealthy ones. This is a type of allogeneic transplant where the donor matches exactly half of your HLA. A haploidentical, or half-matched, donor is usually the recipient's mom, dad, or child. Parents are always a half-match for their children. Siblings (brothers or sisters) have a 50% (1 out of 2) chance of being a half-match for each other. It’s very unlikely that other family members (like cousins, aunts or uncles) would be a half-match.

https://youtu.be/kvtL8No8Kfk

While haploidentical transplant is a newer type of transplant and carries a higher risk of complications such as GvHD or graft failure, it also has some advantages. In particular, because donors are usually a close family members, they are usually very willing to donate and can travel to the medical center where the recipient is, ensuring very fresh stem cells and reducing the chance of delays during transport. They can also be available to donated additional stem cells during recovery, if needed. In many countries, haplo-transplants are preferred due to much higher costs associated with unrelated donors. There are medical centers that specialize in haplo-transplants, and there are many active clinical trials ongoing to improve outcomes.

Another alternative are cord blood stem cells. We will cover that in another post.

This video covers both options in great detail.

https://youtu.be/Cz4oLVfA1mc
New case report of a haplo-transplant in an adult SDS patient

In the SDS community, we have only been aware of one successful haplo-transplant. But last week, a new case report from Japan has been published.

The authors describe their experience treating a 21-year-old male patient with SDS, diagnosed with SDS genetically, as an adult. He developed acute myeloid leukemia (AML) and received a hematopoietic stem cell transplantation from his father, who is human-leukocytic-antigen-haploidentical. The patient received standard conditioning chemotherapy, total body irradiation, and Graft-versus-host disease prophylaxis. Unfortunately, although the patient achieved a complete remission initially, AML relapsed a year later. He passed away of sepsis.

[Haploidentical stem cell transplantation for acute myeloid leukemia associated with adult-onset Shwachman-Diamond syndrome].Uemura Y, Hirakawa T, Matsunawa M, Kozuki K, Saiki Y, Takimoto M, Sano F, Watanabe K, Inoue Y, Arai A. Rinsho Ketsueki. 2022;63(2):94-98. doi: 10.11406/rinketsu.63.94. PMID: 35264508 Japanese.

This report highlights the importance of focusing our research on the prevention of AML and our advocacy efforts on early and wide reaching SDS diagnosis of patients.

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<![CDATA[SDS & Science Snapshots (2022-03-06)]]>https://www.sdsalliance.org/post/sds-science-snapshots-2022-03-066224eba19ab262e0654307a8Mon, 07 Mar 2022 04:56:03 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceIn this issue: Genes involved in SDS, autosomal recessive inheritance, and what is a mutation vs. a VUS?

Welcome to our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email ,connect@SDSAlliance.org or message us on Facebook! This is all for you!

What genes are responsible for SDS?

Our genomes are organized into 23 pairs of chromosomes, made up of very long stretches of DNA. Genes are shorter sequences on the DNA, and each gene encodes one specific protein. Usually, the name of the gene corresponds to the name of the protein. The gene responsible for over 90% of SDS cases is called SBDS (for Shwachman-Bodian-Diamond-Syndrome), and the protein it encodes is called the SBDS protein. It was discovered by Dr. Johanna Rommens and her team, and published in 2003. Since then, several additional genes have been implicated in SDS, namely DNAJC21, EFL1, and SRP54. This GeneReviews article provides a comprehensive overview. Each of these newer genes account for less than 1% of SDS patients.

For about 10% of patients who meet the clinical definition of SDS, no genetic cause has been found thus far. This means that they don't have mutations in any of the genes mentioned above, or have only one mutation (which would only make them carriers). Research is ongoing in several labs around the world to look for additional genes that could be responsible for SDS; and to find additional hard-to-find mutations in the known genes. For example, traditional sequencing techniques are not able to identify large deletions that could have removed parts of the chromosome that contain the SBDS gene, and the patient could appear to have only one mutation. To find such large deletions, specialized testing is needed. Also note, that Analysis of SBDS is complicated by the presence of a highly homologous pseudogene, SBDSP.

Please reach out to an experienced SDS specialist or geneticist if these challenges could be relevant to you. We can help you connect with one (email us at connect@SDSAlliance.org).

What does it mean to be a carrier, not a patient?

SDS is inherited in an autosomal recessive pattern. This means that in order for SDS to happen, both copies of the gene have to lose (or significantly reduce) their function through mutations or deletions.

Note: This is actually quite a unique situation is SDS: complete loss of SBDS is not compatible with life. Therefore, all "SBDS" SDS patients have a mutation that greatly reduces the amount of functional SBDS protein, but doesn't completely eliminate it. The splice site mutation c.258+2T>C you may have heard about, or seen in your own genetic reports, is the most common SBDS mutation and can still produce a very small amount of functional SBDS protein.

If one copy of the gene is normal (functional), than the cell can make enough protein to make up for the mutated copy of the gene, and the cellular function can be maintained without issues. That is why carriers typically don't show any SDS symptoms.

https://youtu.be/Nv6qUsKYodAhttps://youtu.be/_oVvTkjDm6g

What is a mutation vs. a VUS?

Both terms refer to a change in a gene, i.e. a change in the sequence of the 4 bases (A, C, T, G) that make up the genetic code. Our genomes are made up of billions and billions of base pairs of DNA. The majority of the sequence is the same across all humans, but a tiny amount differ (0.01%). That means, such a difference occurs once in every thousand letters of the genome on average. However, due to the negative connotation of the word “mutation,” the human genetics community has started to use a new term: “variant.” The term variant underlines the fact that not all variants are harmful.

Sometimes it can be difficult to tell whether a variant is harmful or harmless. The mass screening of genes is called Next Generation Sequencing (NGS). NGS genetic testing involves looking closely at the base sequence in our DNA code. When the DNA bases are changed, the gene may function differently.

Most variants are harmless and in fact make you unique. Some gene variants may even be beneficial, and can offer a benefit during evolution. For example, a variant could potentially increase our natural defense against some viruses. On the other hand, some gene variants can lead to genetic disorders, such as SDS. Based on their capabilities of causing disorders, variants are classified into five major categories:

  • Pathogenic
  • Likely pathogenic
  • Variants of uncertain significance (VUS)
  • Likely benign
  • Benign

When looking at a particular variant, it can be tricky to figure out into which category it belongs. The determination is usually made by testing laboratories based on various types of evidence. For example, if many patients with a particular disorder all have the same "variant" or "mutation", and the protein's function is well known, then researchers make the determination that is is pathogenic. This information is then available to the testing laboratories through specialized online databases, and scientific publications. If such information is not established for a particular variant, computer modeling and comparison of the sequence of the same gene in other organisms can provide good evidence. For example, if a change is detected in a region of the protein that is known to be critical for its function, then the variant may be "likely pathogenic". And/or if the change is in a region of the gene that is the same across multiple species, then that suggests that it is critical for the protein's function, and again is "likely pathogenic".

Unfortunately, more often then not, the above mentioned evidence is not present, and therefore scientist and clinicians don't have enough information to determine the significance of the variant. In those frequent cases, the variant would be called a VUS (variant of uncertain significance).

The best way to determine whether a variant is significant would be to develop a functional assay to determine whether the cellular process in which the protein is involved is disrupted; or whether some other key phenotype is affected. Another term for these measures are biomarkers, and as explained in a previous snapshots issue, they are incredibly important for therapy development as well. In the case of SDS, if there was an easy, validated assay to measure ribosome assembly or other markers, that would be a great way to tell whether a VUS in SBDS has any significance. We are currently working with our partners on develop biomarkers for this and other reasons.

Have you or your loved-one received VUSs in your genetic report? It’s important to work closely with an experienced SDS specialist or geneticist to help you understand what the VUS might mean for you or your family. Not all variants in SBDS or the other SDS genes means SDS. If a child is diagnosed with a VUS, it is helpful to have mom and dad tested as well to see if either of them have the same variant. If a parent shares a variant with their child, but the parent does not have symptoms that the child is experiencing, it is less likely that the VUS is pathogenic (or it would have likely affected the parent).

Every family with SDS as a potential diagnosis on their genetic report should reach out to an SDS specialist and enroll in a Registry and/or Natural History Study that covers your geographical area. Find a list, here: https://www.sdsalliance.org/sds-registries. Contact us at connect@SDSAlliance.org if you need additional guidance.

https://youtu.be/thh2HfZn7yMhttps://youtu.be/n0oNaWpHws4

Why do I need to know whether I or my loved-one has "genetic" SDS?

As mentioned above, over 90% of SDS patients have mutations in both copies of their SBDS gene. This group of patients have been most thoroughly studies, as this is where most data is available. As most of us are keenly aware, SDS in these patients causes a high risk of MDS/AML (leukemia). However, this risk has NOT been established in SDS patients without a known genetic cause (often referred to as "clinical" SDS patients, or SDS-like). A recent example of some amazing research was published last year by Dr. Shimamura's group, where acquired / somatic mutations were measured and summarized. We can cover the article in more detail another time. The article is available for download, here: https://pubmed.ncbi.nlm.nih.gov/33637765/

As we learn more over time, it is very possible that different types of SDS patients will benefit from different types of monitoring and treatment options. Perhaps one group will need frequent monitoring for leukemic transformation and clonal hematopoiesis, while the others may not need monitoring that often. One group may benefit from some types of treatment options, while others may need other options. The natural history of the different groups may be different as well, and could have implications on how clinical trials and comparator arms are structured. Regardless of what category of SDS you or your loved-one falls into, please consider participating in research, be it in registries or clinical trials in the future. Find a list, here: https://www.sdsalliance.org/sds-registries.

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<![CDATA[SDS & Science Snapshots (2022-02-27)]]>https://www.sdsalliance.org/post/sds-science-snapshots-2022-02-27621b9c973de031d25a50271fSun, 27 Feb 2022 18:35:14 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceIn this issue: Ribosomes in Mitochondria. Therapies and Cures start with an Accurate Diagnosis - what are we doing about increasing the speed and access.

Welcome to our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email ,connect@SDSAlliance.org or message us on Facebook! This is all for you!

New publication on Ribosomes in Mitochondria in Nature Communications, a collaborative project by Drs. Alan Warren and Michal Minczuk's teams.

Our cells contain many different organelles necessary for cell function and therefore, life. We in the SDS community are mostly focused on ribosomes, the organelles in the cells that are responsible for translating the genetic information on the mRNA into proteins. In SDS, there is a problem with building these ribosomes, because there is not enough of an essential component (the SBDS protein) that is involved in the complicated ribosome-assembly process. Typically, when we talk about ribosomes, we mean the ribosomes that are in the cytoplasm or on the endoplasmic reticulum, i.e. the ribosomes that are translating nuclear genomic information into most of the proteins present in our cells. But, our cells have in fact another set of ribosomes: ribosomes within another set organelles called mitochondria. The ribosomes in the mitochondria (a.k.a. mitoribosomes) are structurally different and responsible for translating genetic information encoded in mitochondrial DNA. These ribosomes are NOT involved in SDS, but can cause mitochondrial diseases if there is a defect. Mitochondria are organelles responsible for converting energy from food into ATP, the chemical energy our cells need to live and thrive. See the two videos below to learn more about mitochondria and their role in energy metabolism.

This current publication talks about very detailed work on how components of the mitochondrial ribosomes are modified and regulated. The article titled "A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit" can be downloaded, here: Nature Communications volume 13, Article number: 929 (2022).

https://youtu.be/39HTpUG1MwQhttps://youtu.be/rgC4hmNksAo

Tomorrow is Rare Disease Day 2022!

Watch out for our special edition ,newsletter (coming soon) with Rare Disease Day (and month) highlights!

Therapies and Cures start with an Accurate Diagnosis - what are we doing about increasing the speed and access.

Most of us in the rare disease community are painfully aware how difficult and long the process of getting a correct and accurate diagnosis can be. Hence the term "Diagnostic Odyssey".

Source: https://www.raconteur.net/infographics/the-diagnostic-odyssey/

The average time to a correct and accurate diagnosis is about 5 years, and requires visiting multiple specialist.

Source: https://rarediseases.org/new-patient-journey-infographic-gives-a-glimpse-into-the-diagnostic-odyssey/

For us at the SDS Alliance, increasing the efficiency of SDS and rare disease diagnosis is a top priority, because it will

  1. reduce the suffering of individuals and their families, enabling access to best treatments and support
  2. provide patients the opportunity to participate in natural history studies and voice their needs and priorities
  3. provide the opportunity to help in the therapy development process by participating in research and providing data and samples

And how are we approaching this? Because SDS is very rare, our strategy is to "ENABLE ACCIDENTAL DIAGNOSES". That is, instead of trying to educate a handful of specialists about SDS only, we are investing into

  • making sure SDS genes (in particular SBDS) is covered on as many diagnostic panels as possible, so that doctors can stumble upon SDS even if they don't think of specifically testing for it
  • educate current hematology, immunology, and GI specialist about rare disease in general, including SDS
  • changing how the next generation of doctors think about rare disease. You may have heard the saying: when you hear hoofbeats, think horses, not zebras. We need the medical community to be aware and consider zebras sooner and more widely, once they rule out horses. This will be a win-win for everyone involved.

More information on all our initiatives coming soon.

If you or your loved one already suspect SDS and needs help accessing diagnostic tools and provides, please reach out to us. We have identified resources anywhere in the world to help you with specialists and financial support, if needed. Email us at connect@SDSAlliance.org

Repeat: PubMed overview

What is PubMed.gov, you may ask? Check out this nice summary from McGill University.

The SDS research community is small, so we don't expect SDS specific scientific publications every week, and not every new publication is relevant. But if there are any good ones, we will cover them in this section of snapshot posts. If you need access to a full text article, and its not available through the PubMed link, we may be able to help you. Email us at library@SDSAlliance.org.

Here is a quick over view of what PubMed is and how it works.

https://youtu.be/ZAtP0x9eb0A

Did you enjoy this first edition of the SDS & Science Snapshots? You can Sign up by using the button on top:

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<![CDATA[SDS & Science Snapshots (2022-02-21)]]>https://www.sdsalliance.org/post/sds-science-snapshots-2022-02-216213048ef8d0b22855c2e40eMon, 21 Feb 2022 05:00:00 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceIn this issue: What are biomarkers and why are they important? Rare Diseases: Maintaining Momentum (From The Lancet). Introduction of PubMed.

Welcome to the first edition of our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Please let us know! This is all for you!

What are biomarkers and why are they important?

As we continue to expand the toolbox by investing into critical tools and infrastructure for SDS research, let's take a look what biomarkers are and why they are so important. In the video below, Dr. Janet Woodcock of the U.S. FDA states simply: “biomarkers are characteristics of the body that you can measure.” Discovering new biomarkers is a crucial step in both diagnosing disorders as well as evaluating potential treatments. Biomarkers are used in clinical trials to measure how well the body responds to the potential treatment. Without it, we won't be able to tell if a treatment has any benefit at all. Examples of biomarkers include your basic blood pressure, heart rate, and blood counts such as ANC (neutrophil count), but also more complex markers within our bodies that may be especially relevant for SDS. Dr. Woodcock stresses how crucial it is to improve the clinical trial process and success rate by identifying novel biomarkers so scientists can tell earlier on whether an investigational drug is safe and effective. Another important consideration is how the biomarkers we measure translate to actual improvement to the quality of life of patients.

https://youtu.be/Q1CwARpnfe8

Rare Diseases: Maintaining Momentum (From The Lancet)

Affecting over 300 million people worldwide, rare diseases are hardly rare. Many are difficult to diagnose, and SDS is no exception. These challenges have been compounded during the COVID-19 pandemic, which, in Europe, resulted in more than 80% of patients having essential consultations cancelled... and the situation in North America is similar.

Nevertheless, there is cause for hope. According to a new report from Global Genes, a leading rare disease advocacy organization - yes, the SDS Alliance is a member - , investment in rare diseases has increased sharply. In 2021, drug developers invested a total of US$22·9 billion for research on rare disorders, an increase of 28% compared with 2020.

"The International Rare Diseases Research Consortium (IRDiRC), a public–private partnership, aimed to achieve two main objectives by 2020: to diagnose most rare diseases and to deliver 200 new therapies. The latter goal was achieved in 2017, 3 years ahead of schedule, and the goal for diagnostics is within reach. Looking to the future, IRDiRC have set three new ambitious targets for the next decade: for all patients coming to medical attention with a suspected rare disease to be diagnosed within 1 year and all currently undiagnosable individuals to be able to enter a research study; for 1000 new therapies for rare diseases to be approved; and for methodologies to assess the impact of diagnoses and therapies on patients. Through the work of ongoing and new multi-stakeholder initiatives, these targets are within reach."

We are working hard to make sure SDS is part of this revolution.

One such initiative is the Patient Identification and Engagement for RARE CNS Disorders (PIE4CNS) multi-stakeholder initiative, which aims to address barriers to timely diagnosis and to engagement of patients with clinical research in gene therapy and other promising novel technologies. We are grateful to have had the opportunity last year to participate in this effort, and look forward to help with the next stage as well.

Collaboration is essential to avoid geographic or disease-based silos. In this respect, the European Reference Networks have been instrumental in facilitating the exchange of knowledge between health-care professionals across borders, ameliorating diagnosis and care, and will also be helpful to facilitate recruitment of patients across countries for future trials. Over the past several months, we have expanded our collaboration with the European SDS and neutropenia research community. We will share more, soon.

New on PubMed

What is PubMed.gov, you may ask? Check out this nice summary from McGill University.

The SDS research community is small, so we don't expect SDS specific scientific publications every week, and not every new publication is relevant. But if there are any good ones, we will cover them in this section of snapshot posts. If you need access to a full text article, and its not available through the PubMed link, we may be able to help you. Email us at library@SDSAlliance.org.

Here is a quick over view of what PubMed is and how it works.

https://youtu.be/ZAtP0x9eb0A

Did you enjoy this first edition of the SDS & Science Snapshots? You can Sign up by using the button on top:

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<![CDATA[Introducing Ribo & Somi, the RIBOSOME Superheroes]]>https://www.sdsalliance.org/post/introducing-ribo-somi61fb27754d2e000d0458aab0Thu, 03 Feb 2022 01:09:43 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceThe last day of February is Rare Disease Day, but for us - rare disease families and advocates - every day is rare disease day. But no worries! We just got extra help!

Please meet Ribo & Somi, the ribosome superheroes. They are our new mascots, with the mission to #CureSDS, and teaching the kids in our community about SDS science and advocacy in a fun and approachable way.

They are launching into action with two new resources for kids:

  • The 2022 Coloring Calendar full of information about all things SDS, and
  • a new page on our website dedicated to kid friendly information and resources.

Check out: www.SDSAlliance.org/kids-corner

Have fun learning and advocating!

(P.S. new T-shirts and other fun themed items coming soon. Stay tuned.)

Update:
New languages and formats for the calendar have been added and can be downloaded from www.SDSAlliance.org/kids-corner!
https://youtu.be/43i38ZU2dgc?list=TLGGB5T69R2Mz7wwMTAzMjAyMg
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<![CDATA[Our Team is Growing: Welcome Lisa Superina as our new Family and Community Engagement Ambassador.]]>https://www.sdsalliance.org/post/team-welcome-lisa-superina61f5827cac3fc25789853195Sat, 29 Jan 2022 18:22:51 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceLisa lives on Long Island, New York, with her husband and four daughters. Her two youngest daughters, Nora and Kayla, were genetically diagnosed with SDS after an extensive diagnosis journey - read their story, here. Lisa is a Special Education Teacher at Half Hollow Hills High School West in Dix Hills, New York. She has certifications from Birth-12th grade in Special Education, General Education, and English Language Arts and has a masters in Literacy.

Lisa is passionate about helping the SDS community by supporting research and helping families advocate for their children. She jumped into action on the very same day her first child was diagnosed, raising funding, researching resources, and connecting with SDS families everywhere, and has not stopped ever since. Her drive and creativity have inspired countless other families to engage and she is an unstoppable positive driving force toward therapies and cures for people with SDS everywhere.

In her role as the new Family and Community Engagement Ambassador on the SDS Alliance Team, Lisa helps find and support new SDS families, identify and offer new resources for families, and develop family educational materials and events.

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<![CDATA[SDS Alliance Awarded Chan Zuckerberg Initiative “Rare As One” Grant]]>https://www.sdsalliance.org/post/czi-award6182b1a40059d10017576985Wed, 03 Nov 2021 17:30:36 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceWoburn, MA (November 3rd, 2021) — The SDS Alliance is delighted to announce that the organization has been awarded a prestigious grant from the Chan Zuckerberg Initiative (CZI). The SDS Alliance is chosen as one of the 20 selected organizations from more than 200 applicants to be awarded the CZI “Rare As One” grant for organizational capacity building.

Each grantee will be awarded $600,000 total over the next three years.

“For biomedical research in rare diseases to advance quickly and effectively, patients must be full partners with scientists and clinicians in research,” said CZI Head of Science Cori Bargmann. “We’re proud to expand our cohort of Rare As One grantees and further support the rare disease ecosystem as we work towards diagnosis, treatments, and cures together.”

“Patients are experts in their own diseases, and their knowledge and commitment to advancing progress in their disease areas has the power to center patient priorities and dramatically accelerate the pace of research,” said Heidi Bjornson-Pennell, CZI Rare As One Program Manager. “The RAO Network is proud to lift up these efforts by offering new tools, funding, and capacity-building support and training to help these organizations grow and scale.”

“We are incredibly humbled and grateful to be given this opportunity to advance the development of international collaborative research infrastructure, strengthen our organizational capacity, implement our patients’ priorities, and work synergistically with our research community — specifically for the benefit of our patient community,” said Dr. Eszter Hars, President and CEO of the SDS Alliance.

“We wouldn’t have won this prestigious grant award without our community’s support for our research initiatives, the mouse model project being a prime example. This grant has demonstrated that with proper management and expertise, our community’s donation can be leveraged to create significantly more impact than the face value of the donation would allow. This grant award is also a substantial endorsement of our strategy to drive SDS research. Research and therapy development is a very expensive endeavor, and we absolutely need to use any donation we receive wisely and leverage the funding we have whenever possible,” said Dr. Hars. “Although this award is an important acknowledgement of our efforts, there is so much work to be done. The SDS Alliance will continue to execute our strategy to drive research toward a cure.”

This grant will allow the SDS Alliance to roll out new patient-led projects as soon as early 2022.

About the Shwachman-Diamond Syndrome Alliance (SDS Alliance)

The SDS Alliance is a 501(3)c nonprofit serving the global SDS community, driving research to cure SDS by taking concrete steps to deliver new therapies that prevent bone marrow failure, leukemia, and other problems of SDS — turning HOPE into ACTION, and action into RESULTS. For more information, please visit ,www.SDSAlliance.org.

About the Chan Zuckerberg Initiative

The Chan Zuckerberg Initiative was founded in 2015 to help solve some of society’s toughest challenges — from eradicating disease and improving education, to addressing the needs of our local communities. Our mission is to build a more inclusive, just, and healthy future for everyone. For more information, please visit www.chanzuckerberg.com.

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<![CDATA[Nora's SDS Story with a Twist: Our Quest for a Cure]]>https://www.sdsalliance.org/post/sds-story-nora-kayla-lisa-usa6172463123ed60001677eb74Sat, 23 Oct 2021 04:31:22 GMTEszter Hars, Ph.D., President and CEO, SDS Alliance"I needed to push for what I thought my daughter needed. I was her voice." Shares Nora's mom Lisa. Read this US family's story, here.

Nora Leigh Superina: 7 lbs 1 oz, 20 inches of perfection.

On March 16th, 2020, our sweet, beautiful, Nora Leigh was born. My pregnancy was uneventful and Nora was full term and 7 lbs 1 oz. She spent a short time in the NICU for swallowing some amniotic fluid that would just not absorb because, as the delivery doctor put it, she “flipped out on a wave” of amniotic fluid after just one quick push. Nora was perfect. She was a beautiful and happy baby who took to breastfeeding wonderfully, like her three sisters before her. Having three daughters prior to Nora’s birth, I was no stranger to motherhood, which is why when Nora seemed a little different than my other girls, I began to worry. Most babies leave the hospital lower than their birth weight, but it is expected that within those first few weeks of life, they gain that weight back and then some. Nora did not.

...when Nora seemed a little different than my other [three] girls, I began to worry.
The Infant Stage and my Denial

Nora often seemed weak and floppy to me. It was not uncommon for her to look exhausted with dark bags under her eyes, even after a decent night of sleep. She never really “rolled” over, it was more like she “plopped” when she tried to turn her body. She was very gassy and often seemed uncomfortable. She had a great appetite and nursed on demand, yet she was gaining weight slowly. Despite her slow gain, Nora always followed her own curve, so I was often told, “She is just small, don’t worry” or “She’s petite, like her sisters.” When strangers saw her they assumed she was at least 3 months younger than she actually was. “She is petite.” “She is petite.” “She is petite.” This is what I told them. This is what I told myself. At first, I believed this. I desperately wanted to believe this. How could anything be wrong with my beautiful little girl? She was perfect.

“She is petite.” “She is petite.” “She is petite.” This is what I told them. This is what I told myself.
Something Just Isn't Right- Acceptance

Nora was growing up and I did what I did with my other daughters, what our pediatrician recommended, I introduced baby food. Her stools became excessive and oh so stinky. It seemed like anytime she ate or drank anything, she would have a bowel movement. I began keeping a notebook where I logged everything she ate, drank, her naps, how often she went to the bathroom, what the stools looked like, how she slept... everything. This notebook became an obsession for me and it was at this point that I realized that I knew something was wrong. I had known for some time now... why else would I be so obsessive with keeping track of everything she consumed and everything she did? I did not do this with my other children. My mother’s intuition told me something was wrong and Nora needed my help.

I began keeping a notebook where I logged everything she ate, drank, her naps, how often she went to the bathroom, what the stools looked like, how she slept... everything. This notebook became an obsession for me and it was at this point that I realized that I knew something was wrong.
Failure to Thrive- The Official Start of Our Diagnosis Journey

At Nora’s 6 month checkup with her pediatrician, Nora was labeled “Failure to Thrive.” Even though she was never on the charts for her weight and always at a very low percentile for her height, for the first time, she had fallen off her growth curve. Regardless of what her weight was at that appointment, I had gone into that office with the intention of asking for a script to get bloodwork. Nora’s pediatrician agreed that this was a good idea and off we went for what would be the first of many blood draws. Soon after, the results came back and showed that she had elevated liver enzymes. I remember a sudden rush of fear and having to sit down with Nora fidgeting on my lap. I was told that this could be due to an infection and not to be overly concerned, but they did want to make sure there was nothing to worry about. We were sent straight to Zwanger-Pesiri for a pelvic and abdominal ultrasound, which showed that everything looked normal. This was reassuring, but the fear was still there because we still didn't have an explanation for all of her symptoms. We were given a script for a sweat test at the hospital and were referred to a Gastroenterologist. The sweat test was negative and we were able to rule out Cystic Fibrosis. The gastroenterologist did a cholestasis panel, more bloodwork, and checked her fecal fat in a stool sample, but regretfully, did not check her fecal elastase. If she did, she would have seen that Nora had exocrine pancreatic insufficiency. Looking back, I wish I had pushed more for the doctors to investigate why her stools were so irregular rather than accepting the statement that “frequent bowel movements were normal for babies.” But now I’m taking you closer to the end of the diagnosis journey, I digress.

Over the next few months Nora had more blood draws and doctor appointments than any baby should. No one had answers for us and we kept getting referrals to different specialty doctors: a hepatologist, endocrinologist, cardiologist, neurologist, pulmonologist, and a geneticist.

Over the next few months Nora had more blood draws and doctor appointments than any baby should. No one had answers for us and we kept getting referrals to different specialty doctors: a hepatologist, endocrinologist, cardiologist, neurologist, pulmonologist, and a geneticist. I had her evaluated through Early Intervention for physical therapy, which she did not qualify for, but I knew she needed due to her hypotonia and delay in gross motor skills. This is when I first realized that I couldn't be that mom who sat back and listened to what everyone said. I needed to push for what I thought my daughter needed. I was her voice. So, I had her reevaluated and ended up going through insurance to get her PT when she did not qualify for the second time. Her visits to cardiology, endocrinology, and neurology suggested no problems with these areas and Nora’s essential team of doctors became her geneticist, hepatologist, and gastroenterologist. At this point everyone seemed to believe that Nora had an unknown metabolic or mitochondrial disease that was affecting her liver. She had a microarray, a whole exome sequencing, metabolic and mitochondrial panels, lysosomal storage disease panels, and other testing specific to certain metabolic diseases, but nothing explained her “Failure to Thrive,” elevated liver enzymes, and stools. Everything came back negative, VOUS [Variant of Unknown Significance], or an unrelated carrier status. I asked if there was any more testing that can be done and learned of the Whole Genome Sequencing (WGS). We were told that there was a ten percent yield and the fact that the WES came back negative suggested that it was unlikely that it would give us any answers.

I needed to push for what I thought my daughter needed. I was her voice.

On May 5th, 2021, Nora had a liver biopsy, which showed advanced liver disease due to advanced fibrosis and fat. The doctors did not recognize “the process” that was occurring in her liver and decided that it was of metabolic origin. In the coming months she would get sick frequently. She had multiple respiratory infections, eye infections, ear infections, a urinary tract infection, and multiple episodes of cellulitis from bug bites. I feared her getting sick, because I just knew her body was not reacting to common illnesses, like colds, the way that a healthy child’s body would. We had quite a few Emergency Room visits from high fevers and she ended up with Pneumonia from her “common colds” twice. I was frantic for answers.

In the coming months she would get sick frequently. She had multiple respiratory infections, eye infections, ear infections, a urinary tract infection, and multiple episodes of cellulitis from bug bites.

I trusted Nora’s doctors and I knew that they cared, but no one was more invested in her well being than me, so I dove into my own research. During the day I was a mom and high school teacher, at night I became a doctor, a researcher. I spent hours upon hours searching for a diagnosis for my baby. Like I said, I knew the doctors were doing their part and that they wanted answers, but nobody will ever want answers as much as a mother who has to watch her baby suffer. Every night I sat at my laptop with no less than 10 tabs up on my screen. I would go back and forth between Facebook groups entitled “Parents of Failure to Thrive Children,” “Parents of Children with an Undiagnosed Disease,” etc. I researched doctors who specialized in metabolic diseases and sent them emails, even found their personal contact information on social networking sites and contacted them directly. I had no shame. I became that “annoying'' parent who called over and over to check if lab results were in or if they had any suggestions on something I could be doing differently to help my daughter. “Keep doing what you're doing,” was always the response. So I kept doing what I was doing, praying that the doctors were doing the same. I applied to the Undiagnosed Disease Network and I emailed more doctors. I did safe trial diets and asked for more testing from the doctors. Through the online groups I contacted parents of children who had symptoms similar to Nora’s then dove into diagnosis after diagnosis trying to determine if any of them matched up with Nora’s symptoms.

I spent hours upon hours searching for a diagnosis for my baby. [...] nobody will ever want answers as much as a mother who has to watch her baby suffer. Every night I sat at my laptop with no less than 10 tabs up on my screen.

June 28th, 2021. “We have a diagnosis for your daughter.”

We were on a family vacation in Florida and just finishing up breakfast when my cell phone rang. It was Nora’s geneticist. The first thing she asked was when we were planning on coming home. The fear was immediate. Why would this question be asked unless there was an urgency in getting Nora home? Her second question was if my husband, Graig, was around. Graig and I proceeded to the back bedroom of the condo where we were told, “We have a diagnosis for your daughter.” We didn’t know it then, but that one sentence would change our lives forever. With that sentence, Shwachman-Diamond Syndrome, a disease that we had never heard of before, had instantaneously become a significant part of our life. The rest of the conversation was a blur, but we were basically told of the new team of doctors this disease would require her see: a hematologist, gastroenterologist, pulmonologist, hepatologist, and other doctors as needed. Her main doctor was going to be a hematologist because Nora was just diagnosed with an ultra rare blood and bone marrow disease. We were then told that there is no treatment or cure, yet, just aggressive management. The phone call ended with her saying that there was not much more information for her to give us because she was not very familiar with SDS and she recommended that we not google too much and try to enjoy the rest of our vacation. We hung up the phone and proceeded with our morning on autopilot in a fog of fear. I slathered the girls in sunblock and helped them into their bathing suits, all the while fighting back the urge to scream or cry. I needed to know more, but feared what I would find out. My phone itched in my pocket.

“We have a diagnosis for your daughter.” We didn’t know it then, but that one sentence would change our lives forever. With that sentence, Shwachman-Diamond Syndrome, a disease that we had never heard of before, had instantaneously become a significant part of our life.

At the pool, I waited until the girls were settled, swimming in the water with their daddy. I sat in a lounge chair under an umbrella and pulled out my phone, “What is Shwachman-Diamond Syndrome?” I scrolled and clicked. The first link I clicked had the word “adulthood” in the first sentence. Adulthood. My baby girl would become a little girl, then a big girl, and one day, an adult. Relief flooded through me. We had time. Time to find treatments and a cure. Over the next few hours I made calls to Nora’s team of doctors. They sent me scripts for stool samples to check for exocrine pancreatic insufficiency, so that Nora can start on Creon, an enzyme replacement medicine that would allow her to digest food properly. I set up appointments with all of the doctors that she would need to see when we got back to New York.

The first link I clicked had the word “adulthood” in the first sentence. Adulthood. My baby girl would become a little girl, then a big girl, and one day, an adult. Relief flooded through me. We had time. Time to find treatments and a cure.

From all these phone calls with Nora’s doctors, one statement stands out in my mind, “When it comes to rare diseases, parents find the cures.” This doctor also suggested I find an online support group and align myself with like-minded parents who understand the importance of research. Parents who know that action is needed, that sitting back and waiting for things to happen is not an option.

Parents Will Find the Cure

My fundraising began that afternoon at the Florida pool, and since then, as a family, we have raised over $80,000. [Visit our visit her fundraising page here]. I will stop at nothing to find treatments and a cure for my sweet daughter and others like her. I will share her story with anyone who will listen. I will spread awareness, I will raise funds, I will find a cure...because that's what moms of children with rare diseases do.

I will stop at nothing to find treatments and a cure for my sweet daughter and others like her. I will share her story with anyone who will listen. I will spread awareness, I will raise funds, I will find a cure...because that's what moms of children with rare diseases do.

Having a diagnosis for Nora has been a blessing because we now know what we are up against. Like the saying goes, knowledge is power. Now, Nora has an amazing team of doctors who go above and beyond and listen to my concerns. If they don’t have all the answers (because who really does when it comes to rare disease?) then they find someone who does. Nora has a fever protocol and she takes medications and vitamins that her body needs to thrive. We know what to look for and we know how to deal with health problems as they come. We are connected with an amazing group of people who “get it” and are there to listen or help with any day to day questions. We will be okay. Nora will be great.

If anyone reading this can take anything out of Nora’s story, it would be that a mother’s instinct is always right. Trust yourself, you know your child. Do the research and don’t be afraid to make demands from doctors and ask for the extra tests and bloodwork. If you finally get a diagnosis and it turns out to be a rare disease, like SDS, do more research! Spread awareness, fundraise, and align yourself with like-minded people who have similar goals. You are your child’s biggest advocate and you will make a difference in your child's life! Last, but not least, SHARE your story because you never know who is staying up late researching their child’s symptoms in hopes of possibly stumbling across something that can help them get answers. You can make a difference.

Spread awareness, fundraise, and align yourself with like-minded people who have similar goals. You are your child’s biggest advocate and you will make a difference in your child's life!
Addendum- October 12, 2021

Sometimes life throws you a curveball. Sometimes life throws you two. Yesterday, October 12, 2021, I received a phone call that the genetic testing for my other daughters: Maria, Emma, and Kayla, had resulted. (It was recommended that we have them tested, regardless of them not having any obvious symptoms, because they each have a 50% chance of being a carrier, a 25% chance that they are fine and a 25% chance of being positive). Maria and Emma are carriers of the genetic mutation that causes SDS. But, Kayla....Kayla, my sweet 3-year-old, chubby faced , happy girl, was positive.

What did I miss? My mind raced and is still racing with scenarios...the time she had an ear infection that took two rounds of antibiotics to go away...when she was a newborn and her body was covered in a rash that turned out to be a yeast infection...she’s on the shorter side, but my husband and I would never be considered tall. Weight wise, she is the biggest of all my girls and she has hit all of her milestones. When Kayla gets sick, she recovers. When Kayla gets bug bites, she does not get cellulitis. What did I miss? Nothing. Kayla is not like Nora...and if you really think about it, Nora being born may have saved Kayla’s life. Again, there is power in knowledge, and now we know. Now we can monitor and keep her as healthy as possible. Kayla may not exhibit the typical SDS symptoms right now, but maybe one day she will, and knowing gives us the opportunity to get ahead of it. I thank God every day for giving me these little girls and I trust in His plan. I know with all my heart that I was meant to be their mommy and now we have two perfect girls to fight for… to find a cure for. Nora and Kayla’s Quest for a Cure. We got this.

Sometimes life throws you a curveball. Sometimes life throws you two. [...] I know with all my heart that I was meant to be their mommy and now we have two perfect girls to fight for… to find a cure for. Nora and Kayla’s Quest for a Cure. We got this.

[Editorial note: Thank you Lisa for your incredible fundraising efforts, success, resilience, and positivity. Your work has a profound impact and all the donations from your efforts go 100% to research. To donate to Lisa's fundraiser, visit her fundraising page here.]

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<![CDATA[2021 Annual Global Virtual Fundraiser - Two Million Steps Closer to #CureSDS - Huge Success]]>https://www.sdsalliance.org/post/steps20216163157aade216001625ea52Sun, 10 Oct 2021 17:43:50 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceAt the end of September, we conducted the second annual global virtual fundraiser to support SDS research. The theme this year was TWO MILLION STEPS CLOSER TO #CURESDS.

  • When? September 20st-26th, 2021
  • Where? Virtual! Run/Walk/Roll wherever you like!
  • What? Fun!!! Fundraise and Run/Walk/Roll in your community!
  • Why? To build community and raise funds for SDS research!
  • How? (Registration is now closed). Since you are here, you are likely already registered. Now just get hooked up to the leaderboard!
The vibrant blue T-shirts were hugely popular and were included for participants who registered by the cutoff date is August 29th, 2021. Will they become a collectible?!?
A proud SDS family (mom, dad, and 4 young daughters) sporting their vibrant blue T-shirts, sitting outdoors, smiling, and looking into the camera, in support of SDS research, ready for the Two Million Steps Closer to #CureSDS challenge!
Results:

And just like that, it's a wrap. The conclusion of the 7-day long challenge: TWO MILLION STEPS CLOSER TO #CURESDS is worth celebrating. You stepped up big time and logged - drumroll please! - 3.6 MILLION STEPS! With your support, we have also exceeded the fundraising goal of $10,000 for this fundraiser.

This fundraiser pushed us over the milestone of reaching 70% of our funding goal for the Mouse Model Project. Since then, we reached 85%. Will you help us get to a 100%? Less than $25K to go. Together, we can get there. Let's turn hope into action, now. Learn more here.
Winner of the team challenge:
Winner of the individual challenge:

Here is what she shared with us:

"It was a pleasure to participate in the Two Million Step challenge with our Team at Frost Brown Todd and Al’s Pals. My husband and I were on a family vacation with my 2 sons, their wives, and our 8 grandchildren so putting in steps was not a challenge at all, it was a gift. Every step taken was a step of hope. Looking forward to participating for many years to come. All the best -- Cindy"
Making Memories

A personal diary by the founders

, Day 1.

Evening stroll to break in our brand new #CureSDS shirts and launch into the TWO MILLION STEPS challenge! It's not too late to join! Register here to support SDS research. #StepsToCureSDS

, Day 2.

Ripple effect. We are turning HOPE into ACTION. Several SDS families have already joined us, from around the world. (You know who you are ). How many more families and organizations will step up to the plate? Together, we can make huge strides toward therapies and cures for Shwachman-Diamond Syndrome. Will you join us?

, Day 3.

It's a balancing act. I mean life...as a rare disease parent. There is work, there is raising kids and making sure they get the best care possible, and then there is driving research to #CureSDS. Rare disease research faces specific challenges, most notably funding. In the current paradigm, we - the rare disease families - have to be the agents of change. Is it hard? Yes. Are we doing it anyway? Absolutely. We need to be proactive, fundraise, and be active participants in research. We have got what it takes: the right expertise, experience, vision, plan, and drive. Join us! Register or donate here.

Team: https://www.sdsalliance.org/meet-the-team Vision: https://youtu.be/NAgCRImReXk Plan (Strategy & Roadmap): https://www.sdsalliance.org/strategy-roadmap

, Day 4.

Together we can. None of us could log TWO MILLION STEPS single-handedly, but together we will. There is still time to join, see below. We created the SDS Alliance to bring the whole global SDS community together to work towards our common goal of a brighter future for all SDS patients. We do this by driving research to #CureSDS, and invite all families, organizations, academics, and industry who want to help to join us. Register or donate here.

Team: https://www.sdsalliance.org/meet-the-team Vision: https://youtu.be/NAgCRImReXk Plan (Strategy & Roadmap): https://www.sdsalliance.org/strategy-roadmap

, Day 5.

There is a path to #CureSDS. It may not be easy or straightforward, but with focus, determination, and purpose, we can get there. We are already TWO MILLION STEPS closer, thanks to all of you, turning HOPE into ACTION.

There is still time to join. Register or donate here.

Team: https://www.sdsalliance.org/meet-the-team Vision: https://youtu.be/NAgCRImReXk Plan (Strategy & Roadmap): https://www.sdsalliance.org/strategy-roadmap

, Day 6.

It is all about the SDS patients: young, old, and everyone in between. What do we need to set in motion TODAY to create a brighter FUTURE for all SDS patients? That's what the SDS Alliance is focused on. See our roadmap below. With your contribution to the TWO MILLION STEPS CLOSER TO #CURESDS challenge, you are part of the solution. Thank you!

This challenge ends tomorrow night, but there is still time to join. Register or donate here.

Strategy and Roadmap to Therapies and Cures for SDS: https://www.sdsalliance.org/strategy-roadmap Vision: https://youtu.be/NAgCRImReXk Team: https://www.sdsalliance.org/meet-the-team

, Day 7.

And just like that, we arrived at the summit. The conclusion of the 7-day long challenge: TWO MILLION STEPS CLOSER TO #CURESDS is worth celebrating. You stepped up big time and logged - drumroll please! - 3.6 MILLION STEPS! With your support, we have also exceeded the fundraising goal of $10,000 for this fundraiser. We will announce the winners of the challenge categories, shortly. Thank you, everybody. See you again at next year's event!

#StepsToCureSDS

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<![CDATA[Elevating Shwachman-Diamond Syndrome's Standing ]]>https://www.sdsalliance.org/post/elevating-shwachman-diamond-syndrome-s-standing61551af375d2f90016d15957Thu, 30 Sep 2021 15:06:21 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceFrom the ,Founder, Dr. Eszter Hars, Ph.D.

This week, I had the incredible honor to be invited to speak at the 2021 Global Genes RARE Patient Advocacy Summit, one of the world’s largest gatherings of rare disease patients, healthcare professionals, researchers, advocates and allies, which took place virtually September 27-29, 2021.

Presenting on the panel session focused on "Developing Impactful and Relevant Communication and Education Tools for Your Community" allowed me both to

  • raise awareness about Shwachman-Diamond Syndrome and our amazing community, and
  • share my passion for translating and communicating science to empower patients to advocate for themselves and for therapy development.

For rare disease communities, patient, caregiver, and physicians, education is often one of the core elements of advocacy work. This session offered tactical insights on developing impactful educational materials, programs, and tools around relevant topics for patient communities.

  • Demystifying emerging science and complexities of healthcare with accessible content
  • Empowering patients, families, and caregivers to advocate for themselves in care and research
  • Thinking outside the box – understanding how to build the right tools to fit your community

The RARE Patient Advocacy Summit provides participants with the opportunity to gain insight into the latest rare disease innovations, what’s on the horizon, and what individuals, advocacy leaders and communities can do to accelerate progress. It creates opportunities for stakeholders in rare diseases to connect, work together, share information, knowledge and resources, and build relationships to support and sustain collaboration beyond the Summit. Indeed, I feel so lucky to have been able to catch up with so many inspiring leaders and connect with so many new opportunities.

“This is a pivotal moment for progress in rare disease,” said Craig Martin, CEO of Global Genes. “We are excited to see numerous promising advancements in science and technology, which are leading us toward better understanding, diagnosis and treatment of rare diseases. Yet we also need to work together now to ensure that these innovations can inclusively and equitably benefit patients around the world as they become available. The RARE Patient Advocacy Summit provides an opportunity for the community to learn, connect and engage around topics and initiatives of importance.”

For more information and to register (to access the recordings), please visit: https://globalgenes.org/event/patient-summit/

About Global Genes®

Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. In pursuit of our mission, we connect, empower, and inspire the rare disease community to stand up, stand out, and become more effective on their own behalf ⁠— helping to spur innovation, meet essential needs, build capacity and knowledge, and drive progress within and across rare diseases. We serve the more than 400 million people around the globe and nearly one in 10 Americans affected by rare diseases. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit our Resource Hub.

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<![CDATA[Bringing Shwachman-Diamond Syndrome to the Forefront ]]>https://www.sdsalliance.org/post/nicer-symposium-sds-alliance614f4011e31ab50016909b28Sat, 25 Sep 2021 16:16:18 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceFrom the ,Founder, Dr. Eszter Hars, Ph.D.

This week, I had the great honor to be invited to speak on a patient-centered panel at the NICER Symposium, alongside other accomplished patient advocates. I shared my family's experience with pursuing my daughter's diagnosis to highlight opportunities to shorten the diagnostic odyssey and call for the medical community to consider genetic causes of hematological and immunological (and gastroenterological) presentations much earlier in the patient journey.

The SDS Alliance is working with the NICER consortium on several projects, including providing high impact educational opportunities regarding Shwachman-Diamond Syndrome (SDS) to the medical community and access to diagnostic tool for SDS to providers and patients everywhere.

About NICER: North American Immuno-Hematology Clinical Education & Research

The mission of the NICER consortium is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders. NICER is committed to being purposefully inclusive of pediatric and adult providers from multiple disciplines including, allergy/immunology, genetics, hematology/oncology, hematopoietic stem cell transplant, rheumatology, infectious disease, gastroenterology, endocrinology, etc. to enrich the educational environment and research goals of the consortium. Their goals include:

  • Establishing a network of clinicians and researchers with interest and expertise, to share ideas, provide care and study patients with immuno-hematologic disorders.
  • Utilizing the collective experiences and the multi-disciplinary expertise within the consortium to provide a unique learning and mentoring environment open to both members and non-members.
  • Leveraging the pooled, diverse resources of the members to create a platform for clinical trials, basic science, and translational research with the development of a clinically annotated database, biorepository and network of member centers unified via a central IRB.
  • Partnering with academic societies, institutes and foundations with mutual objectives, to empower the educational initiatives and accelerate research discoveries in areas related to immuno-hematology.
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<![CDATA[Betty's SDS Story and Journey through Bone Marrow Transplant]]>https://www.sdsalliance.org/post/sds-story-katie-and-betty-usa60fc3ecad2f54800151563fcSat, 24 Jul 2021 17:11:59 GMTEszter Hars, Ph.D., President and CEO, SDS Alliance"The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive." Shares Betty's mom Katie. Read this US family's story, here.

[Betty's mom Katie is sharing their SDS story.]

I found out I was pregnant with our 5th baby when we were on a family vacation. This was a big surprise but we already had four children, what was one more?

My pregnancy was going just fine at first. Then when I was 34 weeks pregnant, we found out the baby was not growing like she should and I was diagnosed with IUGR (intrauterine growth restriction). I had an easy delivery when I was 39 weeks pregnant and she was born weighing 7 pounds 2 ounces. I thought those doctors were so wrong worrying about her size! She went home the next day and appeared as healthy as could be.

Betty struggled to gain weight and when she was three months old, the doctor decided to send her for blood work because she was dropping in percentile for her weight and head circumference. Later that afternoon, I received a call from the nurse letting me know that her bloodwork was kind of off and that she was scheduled for an ultrasound and an appointment with the GI doctor the next morning at Nationwide Children's Hospital.

The next morning turned into an all day visit from 8-5. The GI doctor sent us for more bloodwork and by the end of the day I found out Betty had low platelets (I didn't even know what platelets were), low hemoglobin, her thyroid was off, her liver numbers were wacky and much more. It was Memorial Day weekend so we were to go back to the hospital on Tuesday. Over the weekend, I got test results through MyChart showing that Betty had pancreatic insufficiency, so I spent a good portion of my weekend googling that.

Tuesday morning we saw hematology, endocrinology, genetics, dermatology, and GI. We met with the dietician who told us about enzyme therapy and how to give Betty enzymes before eating. While at Betty's hematology appointment, the doctor mentioned Shwachman Diamond Syndrome. We had bloodwork drawn that day to test for Shwachman Diamond Syndrome (SDS) and were told the results take about three weeks.

Almost exactly three weeks later, I got a call from the genetics counselor letting me know that Betty did indeed have Shwachman Diamond Syndrome. Betty was four months old when we got this diagnosis. After hearing the stories of other patients, I realize how lucky we were to get her diagnosis so quickly. We were so lucky to have a Children's Hospital just 20 minutes away with such knowledgeable doctors.

The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive. I spent the next several nights reading about SDS, reading the stories of other patients, crying when I read about families losing their child, and praying. It was an emotional time but I decided to be positive, have faith in God's plan, and enjoy life.

We were followed closely by GI. In late June, Betty continued to drop off the charts for weight so she was given an ng feeding tube through her nose. I was able to continue breastfeeding her by day and at night she would be given formula through the feeding tube for 12 straight hours. But after ten days of getting her ng feeding tube, she got very sick. On the Fourth of July night, she was miserable, vomiting and was having diarrhea all night long. The next morning her stomach was sunk in so much that her skin looked wrinkled. We took her to hematology and she was dehydrated and admitted. She stayed three nights and then got to go home. Less then a week later, she was admitted again with the same issues and stayed for eight nights. We got to go home once again, but she continued to have diarrhea. Betty was still dehydrated and her blood sugar was dangerously low so she was admitted again, but this time it was for almost four weeks.

Betty needed to stop breastfeeding and formula feeds and needed to give her gut rest and time to heal. She was put on TPN (Total Parenteral Nutrition). This is where nutrition is given through the veins. This was such a hard time. Betty felt miserable. I did everything humanly possible to make her feel better. She was finally able to start drinking milk again, but we needed to switch to a bottle so we could see exactly how much she was getting. After not having anything by mouth for a week, she luckily took to the bottle. Betty had a few bad nights of vomiting blood and needed a couple blood transfusions here or there but finally starting gaining weight. The doctors hoped that now that her nutrition was better, that her bone marrow would also improve. Betty came home and started doing much better with her nutrition and gaining weight. I had to feed her every two hours day and night.

The doctors hoped that now that her nutrition was better, that her bone marrow would also improve.

Betty needed to go for bloodwork often after coming home from the hospital. Around November of 2019, when she was 9 months old, we found out that her ANC (absolute neutrophil count) was close to zero. This meant that Betty's immune system was not working very well and the doctors told us to start staying home so that she wouldn't be around germs. Betty started needing blood transfusions about monthly around this time as well. Then in January of 2019, Betty began needing platelet transfusions weekly. Her platelet count was so low that if she bumped her head or scratched her finger, it was a huge deal.

In February, the hematologist said Betty would need a bone marrow transplant. This decision was based off of her bone marrow biopsy as well as her need for weekly transfusions. She had iron overload from all the transfusions and it was time to start discussing a transplant. All of our children and my my husband and myself were tested to see if we were a match for Betty. Our three boys were a perfect match of each other, but not for Betty. Therefore, the doctors looked into the "be the match" registry. We found out that Betty had 1,000 potential matches and from that number, it was narrowed down to four people. Finally we found the best match who happened to be a 21 year old young woman living in the United States. Many children do not have a match, so we felt extremely blessed and thankful for Betty's perfect match.

... the hematologist said Betty would need a bone marrow transplant. This decision was based off of her bone marrow biopsy as well as her need for weekly transfusions.

Betty went through the next three months with lots of tests and also a liver biopsy. Her liver numbers were elevated 15 times higher then the norm but this is all related to SDS. The biopsy was to help the doctors know what medication to use during transplant to keep her liver healthy and not cause further damage.

In late April of 2019, Betty started chemotherapy and was hospitalized for four nights and then we were able to come home to be with the family for one week. We were lucky to be able to be home for Easter as a family. Then, Betty was admitted for her bone marrow transplant. She went through more chemo treatment and received her new cells on May 16, 2019.

Betty's doctors and nurses told me that Betty would begin to feel very fussy, sick, sleep a lot, and would stop eating and would need another ng tube. I was so against the feeding tube due to the discomfort it would cause her and all the problems it caused her in the past so I fought that one. She was supposed to have the ng tube placed on day zero of her transplant but I asked to keep it out and only place it if absolutely necessary. Luckily, we had the best BMT doctor ever who actually listened to my concerns and went along with my plan. My goal was to keep her eating. I worked hard to get her to drink her milk and carnations instant breakfast three times a day. She would drink 3 ounces at each meal and also eat other food. She never needed that feeding tube and she never seemed miserable. I prayed every morning for her to feel good and to eat. I took it day by day and was thankful for each good day.

Betty played everyday and was happy every single day. The doctors would joke around asking if the nurses forgot to give her chemo.

Betty received her new cells at midnight on May 16th, 2019 when she was 15 months old. There are many risks involved with a bone marrow transplant such as graft vs host disease as well as organ damage. That night I prayed and prayed that her new marrow would help her and not hurt her as she received her new cells. I felt an overwhelming feeling that all was going to be okay as her new cells ran through her central line and I just knew God was with her that night.

On Monday, May 27, 2019 Betty was on day +11 which means eleven days after her transplant and it was also her first day of engraftment. She got to go home on May 30th which was day four of engraftment.

We were so amazed at how quickly she got to go home and it was way faster then we expected.

Betty came home and had a few rough days of random vomiting which was most likely related to her getting used to all of her bone marrow transplant medications she was on. She was overall happy and full of energy. We had some minor issues with her skin that the doctor worried about graft vs. host disease, therefore she stayed on her immune suppressant longer then what is typical.

She is now 3 years old and we just celebrated her 2nd re-birthday. She has stayed healthy has not been admitted to the hospital once since she has come home. We feel extremely blessed to have her home everyday and doing so well.

[Editorial note: Thank you Katie for sharing your family's story. To learn more about how could potentially save a life through stem cell donation through Be The Match and other organizations, click here].

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<![CDATA[Mouse Model Project: Meet the Scientists!]]>https://www.sdsalliance.org/post/mouse-model-meet-the-scientists60e533e20022d000150e6be8Wed, 07 Jul 2021 05:20:53 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceFrom the ,Founder, Dr. Eszter Hars

Dear SDS community,

I am so excited to have been able to launch this project. To recap: This project is the first major puzzle piece in our strategy to drive therapy development for SDS. Our strategy includes developing key research tools for the research community by partnering with the best experts in the field. Therapy development is a very complex and expensive endeavor, and we (as a rare disease community) need to be very strategic and focused in order to make progress, fast. We are celebrating the opportunity to make this transformational impact on research and do our part for a brighter future for our children and patients.

We recently hosted a webinar to discuss this project with this expert panel, and compiled a short video of the highlights.

https://youtu.be/dMBghNKNK7A

This mouse model project is filling a huge need: The research community needs a mouse model that (a) is based on the SBDS mutation that is most prevalent in the patient population (the 258+2T>C splice-site mutation), and (b) is able to recreate SDS symptoms representative of SDS in patients. The benefits include:

  • having both the typical genetic and protein defect expressed in all cells of a mammalian model, so that interactions between different cells and tissues can be measured.
  • having a viable mouse, so important long term phenotypes (such as clonal evolution, leukemia, immune defects, cognitive challenges) and potential benefits of therapies can be measured.
  • enabling the development of gene targeted therapies, including gene editing, base editing, and antisense oligonucleotide therapies (ASOs).

This is exactly what we set out to do in partnership with the Jackson Laboratory and leading SDS scientists, including Dr. Johanna Rommens (SickKids Research Institute/Toronto, Canada), Dr. Marc Raaijmakers (Erasmus MC Cancer Institute, The Netherlands), and Dr. Alan Warren (Cambridge University Hospitals, UK).

About the SDS experts and scientists on the webinar panel:

,Dr. Johanna Rommens

Senior Scientist Emeritus at SickKids Research Institute/Toronto, Canada

Dr. Rommens is a Senior Scientist Emeritus at SickKids Research Institute and a Professor in the Department of Molecular Genetics at the University of Toronto. She and her team have identified the main gene responsible for cystic fibrosis, and in 2003, the main gene responsible for Shwachman-Diamond Syndrome (SDS), the SBDS gene. With this discovery, she is a true pioneer and has put SDS on the biomedical research map. She proceeded to develop multiple mouse models for SDS, enabling a wide range of scientific insights into the disease. Her input into the current mouse project has been instrumental.

,Professor Alan Warren

Professor of Haematology, Cambridge University Hospitals, UK NHS Foundation Trust

Professor Warren is currently Professor of Haematology at the University of Cambridge, UK, Clinical Lead for Bone Marrow Failure and Myelodysplastic Syndromes at Cambridge University Hospitals, and elected Fellow of the Academy of Medical Sciences in 2005.

His lab is focused on ribosome biology and the clinical impact of its defects. Ribosomes are the universally conserved macromolecular machines that decode the mRNA to make proteins. Defects in the ribosome assembly process cause the 'ribosomopathies', a fascinating new group of human developmental disorders that perturb hematopoietic stem cell function and promote progression to bone marrow failure, myelodysplastic syndrome and acute leukaemia. Professor Warren's lab discovered that defective assembly of ribosomes, the machines in all our cells that make protein, causes Shwachman-Diamond syndrome. Currently, he is developing a compound screening program based on a drosophila SDS model to find drug candidates for SDS, and if successful, will need mouse models to move the development forward,

,Professor Marc Raaijmakers

Professor of Hematology, Erasmus MC Cancer Institute, the Netherlands

Prof. Dr. Marc H.G.P. Raaijmakers, MD, Ph.D. is a professor of Hematology in the Department of Hematology at the Erasmus MC Cancer Institute, Rotterdam, the Netherlands. He completed postdoctoral research at the Department of Stem Cell and Regenerative Biology at Harvard University and the Harvard Stem Cell Institute, revealing a concept of niche-induced oncogenesis in the hematopoietic system. He (co)-authored papers in leading journals including Nature, Cell, Cell Stem Cell, J. Exp. Med, Blood and Leukemia, served in the editorial boards and provided numerous invited lectures at international meetings, including the European and national societies of Hematology (U.S.A., France, Germany, Spain and Japan) as well as multiple sessions of the International Shwachman-Diamond Syndrome Congress.He chairs the expertise center on Leukemia Predisposition Syndromes at the Erasmus MC Canncer institute and the EHA scientific working group on Rare Hematological Blood Cancers. His laboratory studies micro-environmental contributions to the pathogenesis of hematopoietic disease with an emphasis on the initiation and evolution of preleukemic disorders. He published several articles on Shwachman-Diamond Syndrome and lead the efforts for the development of several SDS research models. His clinical focus is in bone marrow failure syndromes and acute myeloid leukemia.

,Cathleen (Cat) Lutz, Ph.D., M.B.A.

Senior Director, Mouse Repository & In Vivo Pharmacology Genetic Resource Science / Senior Research Scientist, ME, USA

Dr. Lutz is Director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory. She has fiscal and managerial oversight of a growing collection of more than 8,500 unique strains, including over 1,700 live colonies for distribution to the scientific community. As part of the Mouse Repository program, Dr. Lutz is the Principal investigator on a number of NIH sponsored resource grants, including the Mutant Mouse Regional and Research Center at JAX, The SMSR grant to support recombinant inbred and Chromosome substitution panels, as well as the NICHD Cytogenetic Resource to support Down Syndrome related strains and research. Dr. Lutz also serves as the Director of In Vivo Pharmacology and Efficacy Testing Program in Bar Harbor, which interfaces with biotechnology and pharmaceutical companies to pursue novel therapeutics across a variety of therapeutic areas. She has been awarded a Rare Impact Award from the National Organization for Rare Disorders (NORD) in 2021.

As highlighted in our original project announcement, we are raising funds for the characterization work. To donate or fundraise toward this project, please visit our donation platform or use Facebook fundraiser.
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<![CDATA[L’alliance SDS lance un projet de modèle de souris avec le laboratoire Jackson.]]>https://fr.sdsalliance.org/post/l-alliance-sds-lance-un-projet-de-mod%C3%A8le-de-souris-avec-le-laboratoire-jackson60ce0e5bfea2e000151af29aSat, 19 Jun 2021 16:37:38 GMTEszter Hars, Ph.D., President and CEO, SDS AllianceDe la part de la fondatrice (,Founder), Dr. Eszter Hars

Chère communauté SSD,

J’ai le plaisir de vous annoncer que l’alliance SDS a initié un projet avec le laboratoire Jackson (JAX) pour développer un modèle de souris pour le SSD !

Eszter Hars PhD meeting with JAX

Ce projet est très excitant parce que depuis des décennies, nous voulons un médicament pour le SSD et le projet de modèle de souris est la première étape cléqui permettrait le développement d’une nouvelle thérapie pour commencer. Beaucoup de nouvelles approches thérapeutiques – telles que la thérapie génique, les oligonucléotides antisens, les petites molécules thérapeutiques – attendent d’avoir une application pour le SSD. Avec un bon modèle de souris, toutes ces possibilités s’ouvriront ! Ne serait-ce pas merveilleux si nous pouvions juste prendre un comprimé pour restaurer la fonction de notre moelle osseuse ? Un tel médicament serait l’une des nombreuses choses que les chercheurs pourraient travailler dès que le modèle de souris sera prêt !

Ce projet représente la première étape de ,notre stratégie. Nous avons recruté JAX – le leader des développeurs de modèle de souris – pour créer le modèle de souris pour nous. JAX emploie plus de 2300 employés, la plupart d’entre eux sont chercheurs, et leur chiffre d’affaire s’élève à 500 millions de dollars par an. Si tu connais des scientifiques qui travaillent dans le développement thérapeutiques – que cela soit dans le cancer, le diabète, l’immunologie, les maladies du sang, les chances qu’ils utilisent des modèles de souris du laboratoire JAX sont très élevées. Je le sais car je les ai utilisées dans mon propre travail !

Le projet inclut deux parties :

  1. Créer le modèle de souris (introduire les gènes de la maladie dans la souris en utilisant la méthode CRISPR et la reproduction) pour 150 000 dollars ;
  2. Caractériser le modèle (par exemple, comment se manifeste le SSD chez la souris par rapport à l’homme ? Est-ce que la souris développe des problèmes pancréatiques et/ou de la neutropénie ?) pour 150 000 dollars supplémentaire.

JAX est d’accord pour utiliser leur subvention du NIH (Institut américain de la santé) pour couvrir intégralement les frais de la création du modèle ! En d’autres termes, le laboratoire JAX va créer le modèle de souris gratuitement ; tout ce que nous avons à faire est de le caractériser ! Je suis très reconnaissante de l’aide apportée de JAX pour notre communauté. Je suis enchantée que l’alliance SDS soit la première association de patients que JAX ait choisit de supporter de cette manière ! Ils aiment le fait que nous parlons leur langage scientifique – qu’ils n’aient jamais vu cela avec d’autres associations de patients – et ils sont persuadés de notre capacité à amener leur modèle de souris jusqu’au niveau suivant – le développement thérapeutique. Comme nous l’avons envisagé dans notre stratégie, nous tirons profit des subventions du NIH par l’intermédiaire du laboratoire JAX !

Le modèle de souris est la première étape pour trouver un médicament. Es-tu prêt à transformer l’espoir en action ? Pour compléter le financement du modèle de souris, l’alliance SDS lance une ,cagnotte « transforme l’espoir en action » pour atteindre les 150 000 dollars. Nous prendrons les meilleurs experts pour caractériser le modèle et nous nous assurerons qu’ils nous le livrent. Une fois développé, nous rendrons le modèle de souris disponible à tous les chercheurs, n’importe où dans le monde, qui étudient le SSD. Ce modèle de souris nous permettra également d’attirer les experts en développement thérapeutique, incluant les entreprises de biotechnologies, pour tester et améliorer leurs nouvelles thérapies pour le SSD. Je me languis d’un futur où nous ne serons plus inquiets d’une insuffisance médullaire ou de la leucémie. Le futur est entre nos mains !

Notre stratégie fonctionne, mais nous ne pouvons le faire seul. Nous avons besoin de votre soutien ! Ensemble, transformons l’espoir en action et l’action en résultats !

Please donate today and help us fundraise. I'd be happy to help set up your own fundraiser. (Pour les supporters internationaux, nous avons mis en place une collecte de fonds Facebook qui ne facture pas de frais de carte de crédit.)

Cordialement,

Dr. Eszter Hars

Présidente et PDG

Alliance SDS

connect@SDSAlliance.org

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