SDS & Science Snapshots (2022-02-27)

In 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).





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.


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