SDS & Science Snapshots

In this issue: IRDiRC Working Group Recommendations for rare disease patients; The Access to Rare Indications Act could be a game changer...

In this issue: Rare-X report provides update on the true number of rare diseases; new review article on bone marrow failure disorders by...

In this issue: Dr. Bezzerri provides an update on a therapeutic approach targeting premature termination codon (PTC) mutations in SDS, or...

In this issue: Report of a new variant in DNAJC21 associated with SDS like symptoms; Plus, new FDA Guidance on Patient-Focused Drug...

In this issue: New report this week about COVID and COVID-vaccine tolerance in SDS patients; Plus, what is HLA and a Haplo-transplant,...

In this issue: Genes involved in SDS, autosomal recessive inheritance, and what is a mutation vs. a VUS? Welcome to our weekly updates on...

In this issue: Ribosomes in Mitochondria. Therapies and Cures start with an Accurate Diagnosis - what are we doing about increasing the...

In this issue: What are biomarkers and why are they important? Rare Diseases: Maintaining Momentum (From The Lancet). Introduction of...

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...

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...

This week, I had the great honor to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the UPenn ODC.

From 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...

Boston Children's Hospital's Discoveries Blog features this exciting story about SDS research. Read the full story, here. In a research...

The SDS Registry celebrated by hosting the SDS Family Day (conference) in Boston, MA, US. A summary of the event was published by the SDS...