In this issue: New Publication by the SDS Alliance. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development
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 Publication by the SDS Alliance: From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development
The efforts of the SDS Alliance are bringing new hope to the SDS community. SDS Alliance’s very own President and CEO, Eszter Hars, Ph.D. and Dr. Lisa McReynolds, Assistant Clinical Investigator at the National Cancer Institute and member of the SDS Alliance Medical and Scientific Advisory Board published an article in the peer-reviewed Journal of Clinical Pharmacology and Therapeutics. In this article, they described how the efforts of SDS Alliance and other investigators in the SDS community have positioned SDS as a promising target for new therapies.
Eszter shares: "The three major goals of this publication are to: ● Alert physicians about the new ICD-10 code for SDS ● Attract industry interest to the SDS field for therapy development ● Share our work with the SDS community and demonstrate how we, the patient community, can shape the future for our loved-ones by a driving and accelerating research"
This figure from the article summarizes why SDS is a model rare disease and ready for therapy development. De-risking means removing barriers in research, in order to give therapy developers confidence that their investment is worth while and that therapy development will be financially viable for SDS.
Below, we’ll explore how publishing these perspectives and advancements in a peer-reviewed journal pave the way for more research, better care, and the potential for life-changing treatments for the SDS community.
The Importance of Publishing in a Scientific Peer-Reviewed Journal
Publishing in these high quality journals allows high quality work to reach doctors and researchers who can use this information to further advance research. Researchers of a wide range of life-science disciplines rely on special search engines to keep up to date on the latest research and scientific insights. Instead of Google, they use PubMed, which is focused on scientific journals and other publications and organizes the basic information about the articles in a way that allows users to find relevant articles quickly, easily, reliably, and FREE. Learn more about PubMed below, and explore additional videos to dive deeper. Or just try it yourself!
By publishing this article in a high-quality scientific journal - indexed by PubMed - the SDS Alliance is now able to reach doctors and researchers who are not yet engaged in the SDS community, in addition to existing experts. Here is the link to our article on PubMed. PubMed users can set up alerts based on their research interest and keywords, to receive emails if a new article is published that match those search criteria. For example, Shwachman-Diamond Syndrome, or inherited bone marrow failure, or congenital neutropenia. Now all doctors/researchers who use alerts or who search PubMed regularly will have received an alert about our publication, and have the opportunity to learn about a new angle to see the SDS patient community and our work.
Below, you can see how our article appears on PubMed. We circled the button that leads to the full text of our article on the journal publisher's website (Wiley). There, you can read the full article - both the web version (easier to read on a screen) and a PDF version that looks like the printed version that will be distributed to libraries and subscribers later this year.
When research is published in a peer-reviewed journal, it means that other experts in the field have reviewed and validated the work. This process ensures that the information is accurate, reliable, and valuable to the scientific community. For the SDS community (and many other rare disease communities), being published in such journals is important because it increases credibility and visibility. It helps attract attention from researchers, companies, and healthcare providers who might not be aware of SDS. This recognition can lead to more research, funding, and eventually, new treatments that could make a big difference in the lives of SDS patients and their families.
Understanding ICD-10 Codes and Their Importance in Rare Disease
ICD-10 codes are special codes used by doctors and hospitals to identify and track diseases. For rare diseases like Shwachman–Diamond Syndrome (SDS), having a unique ICD-10 code is a big deal. It helps doctors and researchers track the condition and learn more about how it affects the SDS patient community over time, what treatments work better than others, what complications to watch for, and other invaluable data. This data can be used to understand the disease better and to develop new treatments. In 2023, SDS received its own ICD-10 code, D61.02, which marks a significant step forward for the SDS community. This new code makes SDS more visible in the medical world, leading to better care for patients and more research opportunities. If you haven’t already, we encourage you to share the ICD-10 code for SDS, D61.02, with your care team!
Why The Work of SDS Alliance Matters for Developing New Treatments
This article highlights why it's crucial to bring SDS to the attention of biopharmaceutical companies—those who develop new medicines. SDS is an exceptionally good candidate for therapy development because its genetic causes are well understood, and there is strong support from the patient community and researchers. At SDS Alliance, we are dedicated to supporting SDS research and patients, and continue to work hard to establish and foster relationships with companies who support the goals and mission of SDS Alliance, including therapy development.
With the new ICD-10 code, there’s now a new path for gathering data and understanding the disease better, which can aid in the development of effective treatments. This makes it more likely that companies will see the potential in developing therapies for SDS, which could change the lives of those affected by this rare condition.
The Promise of SDS Alliance to Support the SDS Community
With this publication, SDS Alliance highlights and summarizes our work dedicated to the SDS community to improve the lives of those with SDS and to positively contribute to the development of new therapies. Securing the ICD-10 code for SDS is one of the impactful contributions toward making SDS visible and accessing relevant data for therapy development strategies.
By supporting research, providing important tools and data, and fostering a strong patient community, SDS Alliance is not only helping to bring attention to SDS but also paving the way for new and better therapies. Together, our work ensures that SDS patients are heard and that our needs are at the center of therapy development in the future.
Hars ES, McReynolds LJ. From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. Clin Pharmacol Ther. 2024 Jul 22. Epub ahead of print. PMID: 39039619.
Do you enjoy the SDS & Science Snapshots? You can Sign up by using the button on the top right of this post:
Comments