Anne O'Donnell-Luria
anneotation.bsky.social
Anne O'Donnell-Luria
@anneotation.bsky.social
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
Abstracts due July 31! More details at: www.espr.eu/activities-p...
July 1, 2025 at 4:34 PM
Organized in collaboration by @socpedresearch.bsky.social and @espr-esn.bsky.social on a variety of important topics in pediatrics from AI, big data, early life determinants, and more!
July 1, 2025 at 4:34 PM
100 genes were curated for 111 disorders with 78 classified as Definitive, 9 as Strong, 15 as Moderate, and 9 as Limited, highlighting where further data are needed.

Thanks to all the members of the SD-GCEP who contributed to these efforts to improve clinical testing for syndromic disorders.
November 24, 2024 at 9:37 AM