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In Loving Memory Gabe passed away from AML following an unsuccessful stem cell transplantation, surrounded by his family. He leaves behind a sister, his parents, and a loving community of extended family and friends. His parents and community are so proud of all he has been able to achieve in his life. He graduated high school despite being sick, with a GPA of 4.7 and an Eagle Scout. His mom shares: Always trying to make his parents proud and always wanting to help. He wanted to be a biomedical engineer and change the world. If you would like to support his family, please consider donating to the GoFundMe page the family has set up at the start of his transplant journey: https://www.gofundme.com/f/35s8s2-team-gabe

In this issue: Why is advocacy and research on cancer prevention so critical in the fight against cancer in the SDS community? Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! Understanding World Cancer Day and National Cancer Prevention Month: A Vital Effort for the Shwachman-Diamond Syndrome Community This past week, on February 4, communities from all over the world came together to raise awareness about cancer prevention, cancer care, and the barriers that prevent equitable access to these life-saving measures on World Cancer Day. In fact, the whole month of February marks National Cancer Prevention Month in the United States, a time dedicated to raising awareness about cancer prevention strategies and advocating for healthier lifestyles. In a world where cancer affects millions of lives each year, this month serves as a reminder of the importance of proactive measures in reducing cancer risk. For communities like ours affected by Shwachman-Diamond Syndrome, where the risk of developing cancer, especially myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), is significantly elevated, this awareness becomes even more critical. Studies have shown that approximately one in three individuals with SDS will develop MDS or AML by the age of 30, underscoring the urgent need for effective prevention strategies within this community. Below is a video by Osmosis that explains what blood cancer (leukemia) is. Although AML is the biggest concern in SDS, it is important to recognize that other types of blood cancers, and several types of other cancers have been reported in SDS patients. See for example this article from France by Dr. Jean Donadieu., which we will summarize in an upcoming issue. World Cancer Day and National Cancer Prevention Month provide an opportune moment to highlight the significance of early detection, healthy lifestyle choices, and regular screenings in reducing cancer risk, particularly for individuals with SDS. While the genetic predisposition to leukemia in SDS cannot be altered (yet!), lifestyle factors such as maintaining a balanced diet, exercising regularly, smoking cessation, and avoiding exposure to environmental toxins can play a crucial role in mitigating overall cancer risk. Moreover, regular medical surveillance and screenings tailored to the specific needs of SDS patients are paramount. Routine blood tests, bone marrow evaluations, and genetic counseling can aid in the early detection of any abnormalities or pre-cancerous conditions, allowing for timely intervention and treatment. Although advancements in medical research have led to the development of targeted therapies and treatment protocols tailored to the unique challenges presented by many cancers, research is still ongoing about how we can better treat MDS, AML, and other cancers in individuals with SDS. As we observe World Cancer Day and National Cancer Prevention Month, let us reaffirm our commitment to promoting health, advocating for access to comprehensive healthcare services, and supporting ongoing research efforts aimed at better understanding and addressing the complexities of cancer risk within the SDS community. By fostering a culture of prevention, education, empowerment, and active participation in all facets of research and therapy development, we can move towards a future where the burden of cancer is significantly reduced, and individuals with rare disorders like SDS can live longer, healthier lives free from the fear of cancer. __________________________________________________________________________________ Why is research on cancer prevention so critical to progress against cancer? This resource from the National Cancer Institute provides an overview of opportunities and challenges in cancer prevention research: http://bit.ly/31oGH8O __________________________________________________________________________________ The Centers for Disease Control and Prevention is working to prevent cancer through a number of innovative programs. Here’s how they are achieving progress against the disease: http://bit.ly/2SlvVvR __________________________________________________________________________________ For more information about World Cancer Day and National Cancer Prevention Month, you can visit these websites: World Cancer Day (Materials available in multiple languages!) American Association for Cancer Research: National Cancer Prevention Month Cancer Prevention Quiz __________________________________________________________________________________ Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: Unveiling the Mysteries: CZI Blog Breaks Down Your Body's Building Blocks – Surprising Answers to Your FAQs Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! The Science Snapshot this week contains content modified from a blog post published by the Chan Zuckerburg Initiative (CZI) and written by Samantha Yammine. __________________________________________________________________________________ Revealing the Mysteries of Human Cells In a previous Science Snapshot on Understanding the Role of Genes, we briefly reviewed what cells are, the role of genes as instructions for these cells, and the difference between germline/hereditary variants (i.e., mutations) and somatic/acquired variants. Our bodies are composed of trillions of cells that have many different roles – to help us grow, digest food, protect us against infections, and more. These different tasks are controlled by a set of instructions known as genes. (We even have genes whose purpose is to protect us against cancer!) Genes are made up of DNA, which you inherit from your parents, and they determine things like your eye color, height, and even your risk for certain health conditions. In this week’s Science Snapshot, we will be highlighting an interactive and informative blog post published by the Chan Zuckerburg Initiative (CZI) and written by Samantha Yammine, which answered some of the frequently asked questions about the cells that make up our bodies. How many cells are there in the human body? The current best estimate is that the average body contains about 37.2 trillion human cells. There are more cells making up the human body than the number of seconds in one million years. And about 372 times as many cells making just one body than there are stars in our home galaxy, the Milky Way. And that’s without factoring in the trillions of single-celled microbes living throughout the human body in symbiosis (i.e., these microbes positively benefit the function of the human body just as our bodies support their survival). These trillions of cells are the basic functional unit of our biology, coming together to form the different organ systems in our body. Cells come in many forms and functions — from elongated cardiomyocytes that help the heart contract, to the tree-shaped neurons that transmit electrochemical messages throughout the brain, and biconcave, disc-shaped cells carrying iron throughout our blood. Researchers are working to map all of these different cells in our body to better understand health and disease. Image credit: 10 Questions Revealing the Mysteries of Human Cells How big is a cell? Human cells come in a range of sizes, though most are too small to be seen with the naked eye. The main exception to that is the ovum, or egg cell, which is among the largest cells in the body at about 0.1 millimeters (or 100 micrometers) across. Rival to the unusually large size of the ovum are motor neurons emanating from the spinal cord down to the biggest toe. These are about 100 times thinner in diameter than the ovum, but have a single projection running the length of the leg, reaching up to one meter long. Most other human cells average about 10-100 micrometers in diameter. To picture that scale, imagine a single grain of salt cut into five pieces. Each of those pieces would be about the size of the average human cell — no longer visible without magnification, and so small that about 635 of these cells could fit across the diameter of a penny. The size and shape of a cell is closely tied to its function, and can change over time. The growth and division of cells are very carefully regulated to maintain a healthy state. Does every single cell in my body have the same DNA? For the most part, yes, every cell in the body has roughly the same set of DNA. That’s because all cells in the body originate from the fertilized egg, created through many, many rounds of cell division. Each time the cell divides, it makes a copy of its genetic material so there is enough to be passed on to the new cell. While there are many “proofreading” steps to reduce errors in the process of duplicating DNA, there are approximately 120,000 copying mistakes across the 6 billion bases in the genetic code every time a cell divides. While most of these changes do not amount to any significant changes in the genetic code, they can accumulate as cells in the body continue to divide over our lifetime. While every cell in a person’s body has nearly the same set of DNA, cells become different depending on the subset of the DNA being used. It’s similar to how an orchestra works: all of the instruments are there, but not all of them are getting played at once, and depending on the timing and combination of instruments you can get completely different music from the same set of instruments. While every cell has the full set of DNA, as a cell develops and specializes it uncoils the parts of DNA it needs to use and coils up the parts that are less relevant to its functions. That’s how a muscle cell ends up different from a skin cell, even though they have the same set of genetic instructions. Researchers want to learn more about how differences in people’s DNA, environments, and lifestyles impact their health to formulate more precise treatments and prevention strategies. CZI has partnered with the US’ four historically Black medical colleges to further support their cutting-edge scientific research in this field to accelerate precision health for all. Image credit: 10 Questions Revealing the Mysteries of Human Cells How many different types of cells are there in the human body? Historically the answer has been that there are about 200 different types of cells in the human body, but new technology in the last decade has uncovered many more than that, totalling a couple thousand. For example, we’ve known for over a century that there are four main types of cells in the brain: message-conducting neurons, star-shaped support cells called astrocytes, cells that insulate neuronal connections called oligodendrocytes, and specialized immune cells that survey and respond to changes in the brain called microglia. From the first glimpses of these cells through the earliest of microscopes it became clear there are many subcategories of each of these cell types. But it’s taken advances of imaging technology and molecular biology to fully begin to realize just how varied cells can be. For example, the Tabula Sapiens is a project by the Chan Zuckerberg Biohub San Francisco and CZI to map cells of the human body using molecular data. They have already characterized over 400 different cell types using molecular data from studying 500,000 cells from 24 different tissues and organs. The data in these comprehensive cell atlases put a spotlight on the subtle differences between cells that are key to maintaining health, and help us better detect the early changes that lead to disease. How does understanding the cell’s response to disease allow us to develop new therapies? Diseases result from a change in our body’s function, right down to the level of our cells. By studying which cells are affected in a disease and what changes are happening to everyday cell processes, researchers will be better poised to treat the root cause of a disease. That’s because understanding more about the biology of a disease can enable researchers to identify new targets for medications, better understand disease progression, make more personalized predictions of how someone may respond to a treatment, and develop preventative measures for disease. For example, rare diseases often involve specific genetic mutations or changes to how genes and proteins are regulated, which point to the role they play in our cells. Through the CZI Patient-Partnered Collaborations for Rare Neurodegenerative Disease and Single-Cell Analysis of Rare Inflammatory Pediatric Disease, researchers and patient organizations are partnering to accelerate our understanding of some of the more than 7,000 rare diseases affecting more than 300 million people worldwide. This work not only advances us towards new treatments for these diseases, but gives us a better understanding of basic cellular processes that are important to treating common diseases, too. Image credit: 10 Questions Revealing the Mysteries of Human Cells What are some unsolved problems in cell biology? Each of the 37.2 trillion cells in the human body is like a whole city of biological activity. Each cell is complex with many parts interacting within an ever-changing environment. There is so much we still don’t know about how individual cells in our bodies change over time and how they interact as systems in our tissues and organs. While new technology is giving researchers a front-row seat to that activity, collaboration and open sharing of data and tools is key to transforming this new information into scientific breakthroughs. CZI is building open source software tools to accelerate science, funding important research and launching institutes to do research that can’t be done in conventional environments. For the next 10 years, our goal (of the CZI and SDS Alliance!) is to understand the biggest biological mystery about the human body — the cell. A foundational understanding of how they work will lead to discoveries that will change medicine in the decades that follow. Image credit: 10 Questions Revealing the Mysteries of Human Cells ____________________________________________________________________________ For more information about what are some of the important cellular components, like ribosomes and mitochondria, you can review this previously published Science Snapshot or watch this YouTube video. __________________________________________________________________________________ 10 Questions Revealing the Mysteries of Human Cells. Chan-Zuckerburg Initiative Blog Post Written by Samantha Yammine July 27, 2023 Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: Rare Disease Moonshot: Europe’s Public-Private Coalition to Erase the Rare Disease “White Spots” Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! Rare Disease Moonshot: Europe’s Public-Private Coalition to Erase the Rare Disease “White Spots” In their latest issue, the DIA Global Forum publication highlights policy advances for rare disease research at the European level. Read the full article here. "The knowledge and infrastructure required to unlock rare disease “white spots,” diseases where there is currently no science or translational capability, call for a different strategic paradigm. The mission of the Rare Disease Moonshot is rooted in boosting public-private collaborations. Many challenges in modern medicine are too big for one organization to tackle alone. They require true collaboration between a diverse network of companies, policymakers, regulators, academics, civil society groups, and patients. Rare diseases present one such challenge." ~The authors of the article highlight. “The Rare Disease Moonshot taps into the potential of complementary organizations committed to accelerating progress in this overlooked field. It includes the patient voice alongside those of researchers and experts in biobanks and data analytics, translational medicine, clinical trials, regulatory science, and the biopharmaceutical industry.” The Patient Voice YOUR VOICE MATTERS! Make it count! Turn hope into action an join us! The patient voice -- or more specifically, patient-reported data -- is crucial for drug development and regulatory approval by the FDA and EMAE for several reasons. Including patient perspectives and experiences in the evaluation process enhances the overall understanding of a drug's effectiveness and safety. Patient-Centric Focus: Incorporating patient-reported outcomes (PROs) ensures that drug development is centered around patients' experiences and the impact of the condition on their daily lives. This patient-centric focus aligns with the goal of developing treatments that genuinely address patients' needs and improve their quality of life. Measuring Treatment Benefits: Patient-reported data provides direct insight into the benefits of a treatment from the patient's perspective. This information is particularly valuable in assessing the drug's impact on symptoms, functioning, and overall well-being, which may not be fully captured by traditional clinical measures alone. Endpoint Selection: Patient-reported outcomes can help inform the selection of meaningful and relevant endpoints for clinical trials. By including endpoints that matter to patients, researchers can design studies that better reflect the real-world impact of a drug, making the results more applicable to patients' experiences. Clinical Trial Design and Recruitment: Patient-reported data is essential in the design of clinical trials, helping researchers determine the appropriate study population, design patient-friendly protocols, and enhance recruitment strategies. This contributes to the overall success and efficiency of clinical trials. Regulatory Requirements: Regulatory agencies, such as the FDA, increasingly recognize the importance of patient-reported data in evaluating drug safety and efficacy. In many cases, the FDA requires the inclusion of PROs in clinical trial protocols, and positive patient-reported outcomes can support a drug's approval by demonstrating its meaningful impact on patients' lives. Labeling and Communication: Patient-reported data can influence the content of drug labels, ensuring that important information about the drug's benefits and risks is communicated clearly to healthcare providers and patients. This transparency aids in informed decision-making and appropriate use of the medication. Post-Marketing Surveillance: Patient-reported data continues to be valuable after a drug is on the market. Monitoring patient experiences and outcomes post-approval helps identify any previously unrecognized side effects, assess long-term benefits, and guide further recommendations for use. Health Economics and Market Access: Patient-reported outcomes contribute to health economic assessments and market access strategies. Demonstrating the positive impact of a drug on patients' lives can influence reimbursement decisions and market access, making the drug more widely available to those who need it. In summary, patient-reported data is integral to the drug development process, providing a comprehensive understanding of a drug's benefits and risks. Its inclusion enhances the credibility of clinical trials, regulatory submissions, and post-marketing evaluations, ultimately contributing to improved healthcare decision-making and better outcomes for patients. YOUR VOICE MATTERS! Make it count! Turn hope into action an join us! Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: FasterCures investigates patient preferences in the development of new cancer screening technologies Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! New Study Investigates Patient Preferences in the Development of Cancer Screening Technologies FasterCures, a center of the Milken Institute, works to build a system that is effective, efficient, and patient-centered with focus areas in accelerating innovation, building nonprofit capacity, improving the research and development environment, and strengthening global health. Additionally, FasterCures works to embed the experiences and preferences of patients across the biomedical ecosystem to address patient needs and improve outcomes. With this in mind, last fall, FasterCures published a study, The Impact of Insight: Patient Preferences in Novel Screening Technologies for Cancer, exploring patient preferences in cancer screening and early interventions with the goal of informing current patient care guidelines and the development of future cancer screening technologies and interventions. As a side note, our CEO Dr. Eszter Hars, had the privilege to participate in the latest cohort of the Milken Institute FasterCures LeadersLink Program and recently completed a capstone project centered around patient data resources. More about this project coming soon. What This Study Found As screening technologies advance and detect cancer earlier, it is imperative that the development process for early intervention modalities includes patient insights. The incorporation of patient preferences into the development and advancement of early intervention technologies and treatments are equally important. Based on their extensive research and engagement with stakeholders, this study identified the following patient preferences in cancer screening, early detection, and interventions: Image credit: The Impact of Insight: Patient Preferences in Novel Screening Technologies for Cancer This study also identified several key issues with the development of new cancer screening and early intervention modalities including: Unawareness of Individual Risk of Cancer and Recommended Screenings Lack of Diversity in Research Limited Access to Screening Tests Lack of Patient Engagement in the Development of Medical Products Limited Capabilities of Current Screening Tests To address these issues, the authors recommended multiple calls to action, encouraging patient insights to be actionably embedded throughout the research, development, and implementation of cancer screening and early intervention tools. Some of these calls to action include: Invest in research to better understand the biology of cancer, Stratify cancer screening recommendations based on genetic risk, lifestyle, and behavior, Increase the use of genetic testing to create personalized screening plans for individuals with a family history of cancer, Ensure clinical trials for new technologies include participants from diverse communities, Invest in accessible screening technologies and/or initial, self-administered screenings in the home, Continue to engage patients in the development of new screening technologies and early interventions for cancer treatment, and Prioritize the development of screening technologies for lethal cancers and cancers without current screenings. What Does This Mean for You? While we recognize there is more complexity to SDS than its cancer risk and developing and implementing appropriate cancer screening recommendations, this study serves as a great example of the unique needs and preferences that exist amongst different disease communities. SDS Alliance is committed to not only responding to these authors’ calls to action, but also to exploring and incorporating the needs and preferences of the SDS community when establishing our research priorities and designing clinical trials. Together, we can improve outcomes and find a cure for SDS! Make your voice heard: Engage, share your story, and get involved in advocacy. __________________________________________________________________________________ The Science Snapshot this week contains content modified from materials distributed by the Milken Institute and FasterCures. The Impact of Insight: Patient Preferences in Novel Screening Technologies for Cancer Milken Institute: FasterCures In Partnership With: The Rising Tide Foundation September 21, 2023 Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: Data sharing with privacy protection. How can we work together to put together the SDS puzzle? Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! The Importance of Data Collection and Data Privacy in Rare Disease Research Research in rare disease is comparable to putting together a puzzle with each piece of that puzzle serving as a small piece of information about a condition, or in our case, Shwachman-Diamond Syndrome (SDS). To understand the whole picture of SDS, develop treatments, and discover a cure, we need to gather all of the puzzle pieces. This gathering of information is what we call data collection. In the context of rare disease research, because of the scarcity of individuals affected, each piece of information or data point (i.e., every piece of the puzzle) becomes very valuable. And when we put the puzzle pieces together (a process known as data aggregation), it becomes easier to see the complete picture, or gain a better understanding of the disease landscape. This process of putting the puzzle together is crucial for advancing research in rare disease because with more information, scientists and researchers can learn more about the causes, symptoms, and potential treatments for these rare conditions. Image credit: https://www.zamplo.org/rare-disease However, the significance lies not only in the collection and synthesis of data but also in the collaborative sharing of this information and findings. If only one person had some puzzle pieces and kept them to themselves, we wouldn't be able to see the whole picture. Similarly, when researchers share their findings and data with each other, it helps everyone in the scientific community work together to solve the puzzle of rare diseases. In rare disease research, while collaboration is the key to advancing research in rare disease, data privacy and the protection of participants and their data is equally as important. To make a simple analogy, it's like having a lock on your diary or a secret box where you keep your special things. In the world of data collection, data privacy entails the responsible and secure handling of information. It is imperative to balance the necessity of sharing critical information with the imperative to protect individuals' private data. This ensures that progress in understanding and treating rare diseases is achieved while upholding the ethical responsibility researchers have to respect patient privacy. As we begin the new year, SDS Alliance wants to renew our commitment to the SDS community to support, fund, and perform research that is collaborative and productive, while also protecting the privacy of our patient community. We look forward to working together to assemble the puzzle that is SDS in 2024! __________________________________________________________________________________ For more information about data collection and data privacy in rare disease research, you can view this presentation by Sanath Kumar Ramesh, hosted by the Critical Path Institute’s Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), recently. __________________________________________________________________________________ Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: What is a ribosome and how do Lego blocks relate to Shwachman-Diamond Syndrome? Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! Decoding Ribosomes and Exploring Ribosomopathies through the Lens of Shwachman-Diamond Syndrome Within the complex machinery of our cells, ribosomes play a crucial role in crafting proteins – the building blocks essential for life and most of our bodily functions. In this blog post, we'll break down what ribosomes are and explore ribosomopathies, using Shwachman Diamond Syndrome (SDS), as an example of how issues with ribosomes can impact health. The Role of Ribosomes Ribosomes are cellular structures responsible for translating the genetic instructions encoded in our DNA into proteins. These microscopic protein factories assemble amino acids in a specific sequence to form proteins that carry out diverse tasks within our cells. Proteins are vital for cell structure, function, and regulation, making ribosomes pivotal in maintaining our overall health. (With how big of a role ribosomes play, it is not surprising that many organ systems in the body are affected if the process of protein production is disrupted!) The creative video below explains protein synthesis and the important role ribosomes play in this process! Understanding Ribosomopathies in the Setting of Shwachman-Diamond Syndrome Ribosomopathies are a group of rare genetic disorders characterized by abnormalities in the structure or function of ribosomes. These disruptions can lead to errors in protein production (i.e., synthesis), resulting in either the formation of defective proteins or a shortage of functional ones. The consequences of ribosomopathies can manifest in various health issues, affecting different organs and systems in the body. Another way to think about protein production is by comparing ribosomes to a pair of hands that use individual Legos (i.e., amino acids) to build large Lego towers (i.e., proteins). The order of amino acids, or Lego blocks, is specified by the genetic code in our DNA. In SDS, a genetic change in a patient’s DNA (i.e., a mutation) reduces the number of functional ribosomes, which in turn reduces the cells' ability to make enough protein overall. It’s like not having enough hands to meet the protein demands of the body. In SDS, the dysfunction of ribosomes impacts the bone marrow's ability to produce healthy blood cells. This can lead to conditions like anemia, where there's a deficiency of healthy red blood cells, affecting oxygen transport, resulting in fatigue and impacting overall well-being. The Path Forward SDS Alliance, researchers, and physicians are actively engaged in unraveling the complexities of ribosomopathies. For example, Drs. Venturi and Montanaro described How Altered Ribosome Production Can Cause or Contribute to Human Disease in their 2020 article published in Cells, which provides an overview of other ribosomopathies such as Diamond-Blackfan anemia and Treacher Collins syndrome. Additionally, Dr. Alan Warren's laboratory has published several manuscripts, Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome (2018) and Defective ribosome assembly in Shwachman-Diamond syndrome (2011), which provide more information about the role of ribosomes in SDS. By studying conditions like SDS and other ribosomopathies, scientists aim to understand the molecular intricacies that lead to disruptions in ribosomal function. This deeper understanding holds the key to developing targeted therapies and interventions for individuals affected by these rare disorders, offering a brighter outlook for those facing the challenges of ribosomopathies. __________________________________________________________________________________ To learn more about the medical aspects of and science behind SDS, visit our What is SDS? and Science webpages. __________________________________________________________________________________ Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: What does it mean to have a clinical diagnosis of SDS and who are some of the important care team members who can help? Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! The Role of Multidisciplinary Care Teams in Establishing a Clinical Diagnosis of SDS Over the past few months in our Science Snapshot series, we have discussed the diagnostic odyssey for SDS from multiple perspectives including considerations for receiving a genetic diagnosis of SDS and the cost of a delayed diagnosis. In our Science Snapshot this week, highlighting this article published by researchers at the National Cancer Institute (NCI), we will be reviewing what it means to have a clinical diagnosis of SDS and how a multidisciplinary care team can be critical in making an SDS diagnosis. We have also touched on this topic last weekend at our "Ask an Expert" community chat, where our guest expert Ashley Thompson, board certified genetic coucelor and new team member at the SDS Alliance, presented on genetic testing and offered her insights. If you missed the live session, you will be able to catch up on the recording on our YouTube channel. (Coming soon. We will update the link below). What is a Clinical Diagnosis of SDS? Diagnosing SDS involves a comprehensive assessment of clinical features, genetic testing, and consideration of associated complications. Differentiating between clinical and genetic diagnoses is essential in understanding SDS. A clinical diagnosis relies on the identification of observable symptoms and features through physical examinations and medical history assessments. Clinical diagnosis of SDS are often made based on the presentation of hallmark symptoms of SDS, including exocrine pancreatic insufficiency, neutropenia, and skeletal. In contrast, a genetic diagnosis of SDS involves completing genetic testing to identify genetic mutations in a known SDS gene. While positive genetic testing can confirm a clinical diagnosis of SDS, it is important to recognize negative genetic testing does not rule-out a clinical diagnosis of SDS. Interestingly, approximately 10% of individuals with SDS actually have negative genetic testing. Research to discover new SDS genes is on-going. Individuals with a clinical suspicion for SDS and negative genetic testing should talk with their care team about what additional testing could be informative. Does clinical presentation of SDS correlate with genetic status? In a manuscript that was published last year, researchers at the NCI attempted to determine if there was a difference in clinical presentation of SDS based on an individual’s specific genetic variant (i.e, mutation) by analyzing the medical records of fifty-four participants with a clinical suspicion SDS in their Inherited Bone Marrow Failure Syndromes cohort. In Figure 1 from this article (as shown below), the authors presented the classification schema they used in establishing a clinical diagnosis of SDS versus an SDS-like clinical presentation. Individuals with both pancreatic insufficiency and neutropenia were considered to have a classical presentation of SDS. While the authors determined those with either pancreatic insufficiency or neutropenia in the presence of a hypocellular bone marrow constituted an SDS-like diagnosis. Contrary to their hypothesis, the findings of this study suggest there was no distinct clinical presentation associated with an individual’s specific genetic change (i.e., mutation). Overall, the authors reported a narrow genotypic spectrum in not only the SDS cohort at the NCI, but also in other cohorts based on a literature review - the c.258+2T>C and c.183_184TA>CT variants in SBDS were the most common genetic changes in those with SDS. The hallmark clinical features of SDS, including exocrine pancreatic insufficiency, neutropenia, and skeletal dysplasia, were observed consistently among patients with positive genetic testing regardless of the variant type (i.e., a common vs more rare variant in SBDS). Additionally, the study noted a higher prevalence of MDS and AML among pediatric SDS patients with an known genetic cause, indicating an increased risk of hematologic malignancies in this population. The rarity of solid malignancies, such as breast and ovarian cancer, was also highlighted. How a Multidisciplinary Care Team Can Help Establish an SDS Diagnosis This study emphasizes the need for a collaborative approach involving various specialties to streamline the diagnostic process, provide comprehensive care, and address potential complications, including an increased risk of hematologic malignancies in pediatric SDS patients. We have adapted Figure 4 from this article (see below) to provide a visual of the different providers and evaluations that can play an important role in establishing an SDS diagnosis. This collaborative approach to receiving an SDS diagnosis ensures a comprehensive evaluation of clinical features and facilitates the incorporation of genetic testing for confirmation. Early diagnosis facilitated by a multidisciplinary team can help ensure prompt initiation of appropriate treatment and management strategies for individuals with SDS. For more information regarding the clinical presentation of SDS and flyers about SDS to share with your care team, you can visit our “What is SDS?” page. Disclaimer: The information contained in this blog post is an overview of published research and is not intended to be medical advice. If you are concerned you, or a loved one, has SDS, please contact your healthcare team. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features. Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. PMID: 35322185 Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: Breaking news! First CRISPR-based therapy approved by the FDA for treatment of a genetic blood disorder - sickle cell disease - in humans. Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! FDA approves first gene-editing treatment for human illness In a landmark decision, the Food and Drug Administration (FDA) approved the first gene-editing treatment based on the transformational new technology CRISPR to alleviate a human illness, namely sickle cell disease, which is a rare and severe blood disorder. You can now find countless news reports on the topic. To start, we suggest reading this great summary by NPR. What is CRISPR? The Broad Institute offers this concise explanation: CRISPR” (pronounced “crisper”) stands for Clustered Regularly Interspaced Short Palindromic Repeats, which are the hallmark of a bacterial defense system that forms the basis for CRISPR-Cas9 genome editing technology. In the field of genome engineering, the term “CRISPR” or “CRISPR-Cas9” is often used loosely to refer to the various CRISPR-Cas9 and -CPF1, (and other) systems that can be programmed to target specific stretches of genetic code and to edit DNA at precise locations, as well as for other purposes, such as for new diagnostic tools. With these systems, researchers can permanently modify genes in living cells and organisms and, in the future, may make it possible to correct mutations at precise locations in the human genome in order to treat genetic causes of disease. Our website highlights some great videos explaining the concept. Why does it matter to SDS? Like sickle cell disease, SDS is a genetic blood disorder. Both diseases can be treated by a stem cell (or bone marrow) transplant, but because of the high risk and the need for a suitable donor, a transplant is not in reach for many who need urgent treatment. That's where gene therapy comes in. The type of gene therapy highlighted here works by removing hematopoietic stem cells from the patient themselves, "fixing" the genetic problem, and then infusing the cells back into the patient. This process has several advantages over traditional stem cell transplants. 1. Patients don't depend on finding a matching donor, and 2. The risk of serious complications associated with an unrelated donor transplant (i.e., graft versus host disease GvHD) is reduced (or perhaps even eliminated). Patients still need to undergo arduous conditioning with chemotherapy to prepare the bone marrow to accept the new cells, but there have been significant advances in that area as well. Of course, there are new risks that have to be evaluated, such as the risk of off-target effects. Researchers have to show that the gene editing procedure only fixes the intended gene sequence and doesn't alter any other sequence that could inadvertently lead to increased cancer risk or other unintended consequences. In the case of the newly approved therapy for sickle cell disease, the researchers were able to demonstrate that the therapy is SAFE and effective. This matters for SDS in several ways. By going through the whole regulatory process of gaining FDA approval, researchers, drug developers, and the FDA now have more clarity on the regulatory pathway; There is now precedent on how to demonstate SAFETY. We believe this will greatly reduce the cost of developing this technology for other blood disorders, including SDS. Several labs around the world are working on developing CRISPR-based therapies for SDS. Many technical challenges have yet to be overcome, but this approval by the FDA gives us tremendous hope that this could someday become a reality for SDS patients, too. Check out the recording of our SDS POPS (Patient Advocacy and Partnering Summit) from last May for additional insights. More on this subject soon. Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

Huge SDS advocacy and awareness win: Osmosis video on Shwachman-Diamond Syndrome receives thousands of views, with millions more as a potential reach As part of the SDS Alliance's efforts to raise the profile of Shwachman-Diamond Syndrome as an important disease worthy of attention by the medical and research community, we devised a plan to reach the right audience in impactful ways. As such, the next generation of doctors is a major audience to engage. Therefore, we reached out to National Organization for Rare Disorders (NORD) and Osmosis.org earlier this year to propose the creation of a video dedicated to Shwachman-diamond Syndrome. Osmosis.org has the biggest reach into the community of future doctors and caring healthcare providers though their unique approach to education with high quality and medically reviewed videos and innovative learning platform. We are so excited and humbled to announce that an Osmosis.org has created a video on Shwachman-Diamond Syndrome, and published as part of the "Year of the Zebra" Initiative. For context, there are over 10K rare diseases, and so it is a huge deal for SDS to be featured among just a handful of zebras on this impactful platform. The video provides a comprehensive overview of SDS in just 5-minutes, in a concise, inviting, and easy to follow format. The impact is worth celebrating. In the first month alone since publishing, the video has been viewed over 4,000 times. Which means that over 4,000 more future doctors and healthcare providers are now aware of SDS and are more likely to consider testing patients for it and/or understand what specialists to consult. And this is just the start. Osmosis.org has over 6 million subscribers and surpassed 3 million subscribers of their YouTube channel, as of last month. An faster diagnosis and better care will be of real, tangible benefit for new patients and families, as well as research and therapy development efforts moving forward. We encourage the entire SDS community to spread the word and share the video widely and often. It's easy to do. Share this blog post using the sharing buttons on the bottom our page on What is SDS (with the Osmosis video embedded on top), or the YouTube link to the SDS video Our heartfelt THANK YOU to the Osmosis team for creating this amazing resource, and to the SDS community for their help spreading the word. It takes a village. We are turning hope into action, together. What is the "Year of the Zebra" initiative? 2023 is the 40th anniversary of the Orphan Drug Act which gave hope to the hundreds of millions of people around the world who are directly affected by rare disorders (also known as “zebras,” because they are less common than horses). Elsevier Health is launching an ambitious initiative called “The Year of the Zebra” to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members, and the general public about these zebras. What is Osmosis.org from Elsevier? Osmosis.org is a leading medical & health education platform with an audience of over 6 million current & future clinicians & caregivers. Their vision: Everyone who cares for someone will learn by Osmosis! Their YouTube channel features general consumer health videos to educate the public about important medical concepts. The Osmosis.org learning platform features more in-depth basic and clinical sciences videos for health professionals and students, hundreds of decision making trees, thousands of board-style practice questions and flashcards, and advanced features like quiz builders, playlists, collaborative tools, mobile app, and more. Watch this video introduction to learn more about the power of their approach. __________________________________________________________________________________ Do you enjoy the SDS Alliance Blog and SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In this issue: The importance of knowing your family health history and how to have these delicate and powerful conversations Welcome to our timely updates on all things SDS, Science, and Advocacy. 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 genetics@SDSAlliance.org or message us on Facebook! This is all for you! Nurturing Health Through Generations: A Guide to Family Health History Month November is Family Health History Month — a time to begin to unravel the narrative that shapes our well-being. In this Science Snapshot, we’ll explore the significance of Family Health History Month and discuss how to approach these delicate, yet powerful conversations surrounding family health while visiting with loved ones during this holiday season. Understanding Family Health History: Family health history refers to a record of diseases and health conditions that run in your family. It's like a biological roadmap that can help provide insight into potential health detours we may encounter. By uncovering patterns of illnesses among close relatives, individuals can gain valuable insights into their genetic predispositions. Why Family Health History Matters: Predictive Power: Your family's health history can provide clues about your risk for certain conditions, such as heart disease, diabetes, or certain types of cancer. Understanding your family's health history allows you to grasp the genetic risk you inherit and can potentially pass on to future generations. Empowering Health Literacy: Understanding the familial and genetic underpinnings of health conditions fosters health literacy and empowers individuals to make informed decisions about their lifestyle choices, preventative screenings, and healthcare choices. Personalized Healthcare: Armed with knowledge about your family's health, you can work with healthcare providers such as your primary care physician and/or genetic counselor to create personalized healthcare plans. This proactive approach enables early detection and management of potential health risks. You can use tools such as My Family Health Portrait (more details at the bottom of this post) to keep track of your family health information and share it with your health care providers. Talking to Your Family: Approaching the topic of family health history can be sensitive, but it's a conversation worth having. Here are some tips on how to broach the subject: Create a Safe Space: Choose a setting that fosters open communication, free from distractions and time constraints. Express Empathy: Acknowledge that discussing health issues can be emotional. Approach the conversation with empathy and understanding. Lead by Example: Share your own health history first. This can help others feel more comfortable opening up about their own experiences. Use Open-Ended Questions: Instead of asking yes-or-no questions, use open-ended ones to encourage more detailed responses. For example, ask, "Can you tell me about any health conditions that run in our family?" Highlight the Benefits: Emphasize the positive impact of understanding family health history on everyone's well-being. Explain how it can guide healthier lifestyle choices and preventive measures. Family Health History Month serves as a reminder of the valuable information embedded in our family trees. Initiating conversations about health history within the family may initially feel daunting and uncomfortable, but the benefits can far outweigh any initial discomfort. The insights gained from family health conversations are invaluable, shaping a roadmap for a healthier future. Join us during our next Community Conversation on Sunday, December 10th to continue the conversation about genetics and how genetic testing for SDS can help your family! __________________________________________________________________________________ My Family Health Portrait, a tool from the Surgeon General, allow you to: Enter your family health history. Learn about your risk for conditions that can run in families. Print your family health history to share with family or your healthcare provider. Save your family health history so you can update it over time. __________________________________________________________________________________ For more information about Family Health History, you can visit these websites: CDC: Knowing is Not Enough—Act on Your Family Health History CDC: Family Health History and Cancer NIH: Family Health History for Patients and Families __________________________________________________________________________________ Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:

In Loving Memory Here is Jason's story, as told by his mom Ginny. After an emergency C-section on April 4, 1977, Jason entered the world at about 6PM. At his second visit with the pediatrician, I was asked to bring him to the hospital because they didn’t like his blood tests. They suspected leukemia but nothing really showed up and they sent him home. For a few years he did relatively well except he kept getting the croup. Then when he was about 4 he became sick and couldn’t eat but kept having diarrhea. Eventually, he was admitted into the hospital. At that point he wasn’t eating or drinking so they gave him an IV and watched him because there were no fluids in his little body. After numerous hours watching him, he finally urinated. It was at that point that we were sent up to Children’s Hospital of Pennsylvania (CHOP). We spent several years at CHOP traveling back and forth, collecting his bowel movements, getting X-rays and having bone marrow tests. They thought he had Cystic Fibrosis and/or Crohn’s disease. After numerous hospital stays, numerous X-rays, etc., the radiologist came running after us to see the doctor Jason saw. She had just attended a conference about SDS and wanted to take yet another X-ray but this time of his knee and wrist. Sure enough he showed the signs she had heard about for SDS. This began even more visits until he was finally diagnosed. In the middle of all this I got divorced and moved back to NY with the boys to live in my parent’s house. Jason was seeing Dr. Jeff Lipton and he was amazing. We found out that Jason was in need of a bone marrow transplant and it turned out that my other son, Brad was a perfect match. He was going to be the first SDS patient in the world to receive a transplant. Well, the transplant was successful, however, the chemo he received killed his heart cells. Jason passed away on August 15, 1987. He was 10 years old. Ginny, Jason's mom, wrote a beautiful poem. I Am Still Their Mother Long before the child was born I dreamed of being a mother Into my life came a beautiful boy With a smile that made me melt He was tiny, soft and full of life And I cried when I first held him. As he grew he became part of me And we laughed and cried together. It seemed like I needed nothing more Till I found out he would have a brother. Along came this fabulous bruiser of a child And the three of us could do no wrong As long as we were together! But all that's perfect cannot last And my number one son left us all too soon. We cried, we talked, we tried to understand, But number two and I had to pull it together. And so we did and through us he lives And I am still their mother! Ginny Gordon Bennette