Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.
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Joined October 2021
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New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000+ families.
🧬nature.com/articles/s41586-0…
GREGoR Consortium retweeted
Proud moment last week at #ASHG2026: @DanielGCalame, MD, PhD presented new findings showing RNPS1 haploinsufficiency causes a syndromic neurodevelopmental disorder with skeletal anomalies. #Genomics #RareDisease #GREGoR
Today on Variant Scientists Appreciation Day 🎉 (Oct. 25) we recognize the professionals who are advancing #RareDisease #Research and helping to solve unexplained rare genetic disorders through their contributions to genomic and variant science 🧬! #CelebrateVariantScientists
Friday's afternoon poster session (2:30 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG
Board 1123F: "Recurrent WWC3 Missense Variants Affecting Asp1052 in Males with a Candidate Syndromic Connective Tissue Disorder and Aortic Root Dilation" by Rodrigo Mendez
Board 2060F: "Measuring X-chromosome inactivation skew from tandem repeats and epigenetics in long-read genomes (XCITE)" by Chris Seward @PNRIGenetics
Attend Friday afternoon's #ASHG26 talk to hear Daniel Calame share his work at 2:00 pm, Session 79:
"Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Syndromic Neurodevelopmental Disorder with Skeletal Anomalies"
@DanielGCalame @BCMHouston
🚨Don't miss the GREGoR Consortium's Ancillary Session at #ASHG26 on Friday, Oct 23, 12 pm, in Room 513DEF! Featuring Dr. Ben Heavner @BenHeavner.
It's not too late to register: buff.ly/ewHR4zZ. Free lunch will be provided. 200 people max.
#RareDisease #Research #ASHG
This Thursday's afternoon poster session (4:15 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG
Board 1135T: "TTC36 and autosomal recessive tyrosinemia: evidence from human genetics and functional validation" by Chloe Munderloh @BCMHouston
Board 1083T: "Biobank-scale molecular profiling refines interpretation of rare recessive alleles in Mendelian disease genes" by Evin Padhi @EvinPadhi
