Anne O'Donnell-Luria

Abstracts due July 31! More details at: www.espr.eu/activities-p...

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!

Be a part of the inaugural Paediatric Research for the Future of Children (PRFC) global forum in Geneva Switzerland, February 11-13, 2026. Submit your abstract by 31 July.

I'm looking forward to attending Pacific Symposium on Biocomputing Jan 3-7 2026 on the Big Island of Hawaii and helping to organize the Precision Medicine session. Reminder that you have until August 1st to submit your conference paper for #PSB26. psb.stanford.edu

Save the date! Join us #AnVILCommunityConference2025 on September 4-5, 2025 in Nashville, TN. We’ll start with a Networking Event on the evening of September 3, 2025. Dive into genomic data science and cloud computing with scientific talks, poster sessions, and a collaborative CoFest!

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.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Purpose The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP…

We are pleased to share a preprint on the gene curation progress from the first 4 years of the ClinGen Syndromic Disorders Gene Curation Expert Panel (GCEP).

My mind was also blown - amazing work from Bob and the McCarroll lab! I was surprised by the result but it completely fits the clinical picture - and has important therapeutic implications.

I can't image a be a better first post on bluesky! I am so excited to have #gnomAD v4 finally launched. An open-source dataset of this scale is going make a difference for patients and families with rare disease #genechat