2 days agoSDS Science NewsSDS & Science Snapshots (2022-07-03)In this issue: IRDiRC Working Group Recommendations for rare disease patients; The Access to Rare Indications Act could be a game changer...
Jun 25SDS Science NewsSDS & Science Snapshots (2022-06-25)In this issue: Rare-X report provides update on the true number of rare diseases; new review article on bone marrow failure disorders by...
May 9SDS Science NewsSDS & Science Snapshots (2022-05-08)In this issue: Dr. Bezzerri provides an update on a therapeutic approach targeting premature termination codon (PTC) mutations in SDS, or...
Mar 20SDS Science NewsSDS & Science Snapshots (2022-03-20)In this issue: Report of a new variant in DNAJC21 associated with SDS like symptoms; Plus, new FDA Guidance on Patient-Focused Drug...
Mar 13SDS Science NewsSDS & Science Snapshots (2022-03-13)In this issue: New report this week about COVID and COVID-vaccine tolerance in SDS patients; Plus, what is HLA and a Haplo-transplant,...
Mar 7SDS Science NewsSDS & Science Snapshots (2022-03-06)In this issue: Genes involved in SDS, autosomal recessive inheritance, and what is a mutation vs. a VUS? Welcome to our weekly updates on...
Feb 27SDS Science NewsSDS & 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...
Feb 21SDS Science NewsSDS & Science Snapshots (2022-02-21)In this issue: What are biomarkers and why are they important? Rare Diseases: Maintaining Momentum (From The Lancet). Introduction of...
Sep 25, 2021SDS Alliance NewsBringing Shwachman-Diamond Syndrome to the Forefront From 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...
Jul 7, 2021SDS Alliance NewsMouse Model Project: Meet the Scientists!From 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...
Jun 13, 2021SDS Alliance NewsAdvocating for SDS Research at Rare Drug Development Symposium This week, I had the great honor to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the UPenn ODC.
Jan 16, 2021SDS Alliance NewsA Cure for SDS: Our MissionFrom the Founder, Dr. Eszter Hars “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world...
Jan 28, 2020SDS Science NewsBone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndromeBoston Children's Hospital's Discoveries Blog features this exciting story about SDS research. Read the full story, here. In a research...
Dec 20, 2019SDS Science NewsThe North American SDS Registry celebrates its 10 year anniversary by giving back to the communityThe SDS Registry celebrated by hosting the SDS Family Day (conference) in Boston, MA, US. A summary of the event was published by the SDS...