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SDS & Science Snapshots (2024-05-18)

In this issue: Is a new screening test for SDS on the horizon?

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 or message us on Facebook! This is all for you!

New Publication Combines Protein and Genetic Analyses to Help Diagnose Individuals with SDS

The process of identifying the genetic mutations responsible for an individual's diagnosis of Shwachman-Diamond Syndrome (SDS) can be complex, time-consuming, difficult to access, and expensive, especially when genetic tests don’t find the typical mutations. This is where exciting new fields called proteomics and proteogenomics can be helpful! In this SDS & Science Snapshot, we will highlight a new publication of a proteogenomic study in individuals with SDS and other inherited bone marrow failure syndromes which may help establish a new faster and cheaper way to screen for SDS before (or after) completing genetic testing!

Proteomics is the study of proteins in our bodies. Proteins are like tiny machines that do all sorts of important jobs, like building tissues and fighting off infections. By looking at the quantity and quality of all the proteins in a person’s cells, scientists can uncover differences in proteins that are responsible for disease (and might also help provide hints as to what genes to analyze in genetic testing). Proteogenomics combines proteomics with genomics, the study of genes. This means scientists look at both the genes and the proteins to get a complete picture of what’s happening at the cellular level. The video below published by the National Cancer Institute describes proteomics and proteogenomics and how these methods may be particularly helpful in treating cancer, but the same concepts can generally apply to SDS as well.

For people with SDS, proteomics and proteogenomics could be very useful. Even if a genetic test doesn’t show the usual SDS mutations, these new technologies can look at a different angle to help find changes in protein levels or protein interactions, which might reveal hidden problems that genetic tests miss. For example, if a person with SDS has unusual protein patterns, doctors might be able to spot this and diagnose SDS earlier. Since genetic testing is frequently complicated by the SBDS pseudogene (as reviewed in this previous SDS & Science Snapshot), these new types of analyses for individuals with mutations in the SBDS gene may be especially helpful in serving as a screening mechanism, signaling to a patient’s care team to keep searching for genetic mutations.

Using samples from individuals with inherited bone marrow syndromes, including SDS, researchers from Japan were able to test a new type of proteogenomic analysis to help screen for individuals with SDS based on the amount of SBDS protein in a patient's cells. These researchers found that individuals with low amounts of SBDS protein in blood also had mutations in the SBDS gene as revealed by genetic testing. By combining proteomics and genomics, some abnormal results in this study also helped lead researchers to using a different type of genetic testing to definitively identify SBDS mutations and provide a SDS diagnosis for two patients!

To the best of our knowledge, this was the first time that a simple, rapid screening test has been developed for diagnosing SDS. The authors suggest this type of proteomic-based diagnostic pathway could be easily and rapidly used across a large number of samples, leading to early identification of SDS and therapeutic intervention. These findings are encouraging and important for reducing the burden of the diagnostic odyssey for individuals with SDS. More research is still required to validate these types of proteomic and proteogenomic diagnostic methods, especially for those with genetic mutations in more rare SDS genes such as DNAJC21, EFL1, and SRP54. 


Wakamatsu M, Muramatsu H, Sato H, Ishikawa M, Konno R, Nakajima D, Hamada M, Okuno Y, Kawashima Y, Hama A, Ito M, Iwafuchi H, Takahashi Y, Ohara O.

Integrated proteogenomic analysis for inherited bone marrow failure syndrome. Leukemia. 2024 May 13. doi: 10.1038/s41375-024-02263-1. Epub ahead of print. PMID: 38740980.

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