GREGoR Consortium

This Rare Disease Day 🧬, we share how GREGoR 🫛 bridges the diagnostic gap in rare disease by developing and applying cutting-edge technologies to discover the causes of unsolved genetic disorders and sharing data to accelerate discovery. 🎯

#GREGoR #NIHResearch #RareDisease

UW's Genetic Analysis Center @uwsph.bsky.social plays a key role in efforts aimed at discovering the cause of currently unexplained rare genetic diseases through its work as the Data Coordinating Center for the (GREGoR) Consortium @gregor-research.bsky.social - More: bit.ly/3M5f8NS

The GREGoR DCC connects "doctors, clinicians, genetic counselors and other researchers with each other and with patients who have undiagnosed and rare genetic diseases, " and also "helps people organize and share data from different sources so that it can be analyzed collectively."

Spotlight on the Genetic Analysis Center (GAC) at the University of Washington and its role as the GREGoR Data Coordinating Center (DCC).

@uwbiostat.bsky.social @uwsph.bsky.social

See how translating findings from animal research to human health provides much-needed answers for families whose children had gone undiagnosed. D. Calame and @jesse-levine.bsky.social @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social nationaltoday.com/us/tx/housto...

New coverage in The Scientist highlights Dudley Lab research showing that two damaging variants don’t always make disease worse — in many cases, they restore protein function. These findings could reshape how #genetic risk is interpreted, especially for #raredisease. Read more at: bit.ly/4rdvgfm

From lab bench to bedside – research in mice leads to answers for undiagnosed human neurodevelopmental conditions The findings have provided answers to families that until now had no diagnosis for their child's condition.

Years of research with animal models led to answers to families with a child with undiagnosed conditions. D. Calame and @jesse-levine.bsky.social. blogs.bcm.edu/2026/02/10/f... @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social #HumanGenetics #TexasChildrens

From Data to Diagnosis: GREGoR aims to demystify rare diseases An update on the work of the GREGoR Consortium, whose mission is to guide the rare disease community toward finding genetic diagnoses.

Spotlight on GREGoR's ongoing efforts to "transform the diagnosis of rare diseases from a long shot into a manageable, evidence-driven process for families worldwide"!

www.fredhutch.org/content/www/...

We’re excited to confirm Fritz Sedlazeck as our first speaker for #nanoporeconf! His research confronts genomic inequity, identifying novel variants that could influence disease risk, gene regulation and healthcare in Hispanic populations. https://bit.ly/4sOxMKd

Coming up! with Yuriy Baglaenko @baglaenkolab.bsky.social and Stephan Riesenberg @mpi-eva-leipzig.bsky.social
Details ℹ️ ➡️ www.varianteffect.org/seminar-seri...

Accessible genomics training = career growth + representative workforce

Join our Jan 27 webinar to learn how education opens doors for paraprofessionals and builds a better workforce. Register now: https://bit.ly/3Kvl4Pg #ASHG #HumanGenetics #GeneticsEducation

The recording is now available www.youtube.com/watch?v=domr...

YouTube video by Impact of Genomic Variation on Function Impact of Genomic Variation on Function (IGVF) Consortium Q&A

Cheers to another year of discovery! 🎇

As we wrap up 2025 and look toward 2026, we’re excited to share voices from across IGVF.

Tune in to our IGVF Q&A featuring consortium members reflecting on this year’s work and what’s ahead: youtu.be/zPzGIjSQJ4U

DGIdb Feature Sets Evaluation Below is a list of proposed features currently under consideration for inclusion in the next major release of DGIdb. Each feature is grouped by category and includes a brief description. We ask that y...

Help the DGIdb development team understand how we can better promote hypothesis generation and interaction data sets for the biomedical and clinical research community. Take 5 minutes to share how you use DGIdb and what we can improve for your research:

forms.gle/ohrk49dmHMPX...

📢 Registration for the ASGCT 2026 Annual Meeting is officially open! Secure your spot to join thousands of cell and gene therapy experts in Boston, May 11-15, 2026. Register today: https://annualmeeting.asgct.org/register-attend/rates-registration

November 2025 Release - AnVIL Portal November 2025 Release

📣 November 2025 Data Release Now Live on AnVIL!

New datasets are now available from these studies: GREGoR, IGVF, OurHealth, CCDG, METSIM, and more! Access & analyze in AnVIL's secure, cloud-based platform.

📖 Read more in the release notes: anvilproject.org/releases/202...

Graphical summary

Excited to share a genome-wide analysis of pathogenic truncating variants that escape nonsense-mediated decay (NMD) that may produce truncated and/or altered protein tails that are likely to disrupt condensate behavior, contributing to human disease.

www.medrxiv.org/content/10.6...

How GREGoR Consortium is advancing the diagnostics of rare diseases Learn about the major accomplishments of the consortium’s first five years and the frontiers in genomic medicine that researchers will tackle next.

Learn about the major accomplishments of @gregor-research.bsky.social. R. Gibbs, @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com blogs.bcm.edu/2025/11/18/f...

Check major accomplishments of @gregor-research.bsky.social. @eurekalert.bsky.social @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com www.eurekalert.org/news-release...

YouTube video by HumanGeneticsSociety The Virtual Symposium shows how research is making data sharing faster & improving diagnoses!

The Virtual Symposium on Dec. 2-3 shows how research is making data sharing faster & improving diagnoses. Speaker Nara Sobreira, MD, PhD, gives a preview of her talk on the diagnosis odyssey. To see her full talk, register now: bit.ly/4oPdyh3

🎥Discover what’s in store: youtu.be/f0PP2Ih1w68 #ASHG

It's #GeneticCounselorAppreciationDay!🧬 We recognize the incredible impact of #geneticcounselors who bring clarity, compassion, & expertise to patients navigating #genomics. Be part of the celebration—check out these National Society of Genetic Counselors events: www.nsgc.org/Education-an... #ASHG

🧬 How do cancer genomes evolve — and how can decoding them improve diagnosis & treatment? Join PNRI’s #ScienceMatters seminar Nov 19 (10–11 am PT) with Dr. Isidro Cortés-Ciriano of @ebi.embl.org & @sangerinstitute.bsky.social. Free on Zoom ➡️ bit.ly/3JD4AEo

#CancerResearch #Genomics

When a doctor suspects their patient might have a genetic disease, they can test a person’s genome to find differences (variants) that might cause the symptoms. However, it can be challenging to find… How a “common language” to share genetic variation can improve patient care

The GA4GH Genomics Knowledge Standards (GKS) Work Stream aims to develop a “common language” to describe and share variants, helping to deliver on the promise of scalable genomic medicine. Watch the animation to learn more!

Genetic testing can raise more questions than answers, especially for #RareDisease variants. A new PNRI study w/ @bcmhouston.bsky.social, Texas Children's Hosp, @childrensnational.bsky.social and Univ. of VA clarifies how #OTC gene variants affect health & guide prevention. More at: bit.ly/48d8WdJ

GREGoR: accelerating genomics for rare diseases - Nature The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

Read about our efforts in the NHGRI's GREGoR Consortium to tackle some of the hardest-to-solve rare disease diagnoses. Online now www.nature.com/articles/s41...

GREGoR: accelerating genomics for rare diseases - Nature The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

New in @nature.com! “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.

🧬 www.nature.com/articles/s41...

From coffee-fueled coding marathons ☕ to new genomics tools: Our 2024 #Hackathon paper is out in @f1000publishing.bsky.social !
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social

Do you analyze NIH data in a compliant system? AnVIL could be your solution!

Join our next AnVIL Demo on Nov 19 at 10 am ET to learn how AnVIL meets the new security requirements under the Genomic Data Sharing Policy.

✏️ Sign up for AnVIL Demos here: bit.ly/anvil-demos

🏓 Great news! The early-bird registration discount for Hope on the Court has been extended to Nov 17. Join the Dec 7 #pickleball tournament benefiting families affected by Arginase 1 Deficiency. Play for fun or for medals — all ages welcome! Register: hopeonthecourt.com
#RareDiseaseAwareness #ARG1D

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR Variants in the familial hypercholesterolemia gene LDLR—the most important genetic driver of cardiovascular disease—can raise circulating low-density lipoprotein (LDL) cholesterol concentrations and i...

Amazing work from Daniel, Fritz and team!

Paper: www.science.org/doi/10.1126/...
Variant effect map review: www.nature.com/articles/s41...
Cardiovar consortium: www.genomeweb.com/research-fun...
Atlas of variant effect maps: www.mavedb.org