🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Sometimes vaccine efficacy is subtle Sometimes it isn't

Following the NIH decision to cap funding for indirect cost reimbursements at 15%, NY Genome Center Scientific Director Tom Maniatis calls for swift, united action. cell.com/cell/fulltext/… Read his Commentary now in Cell

It is so nice to have our paper out on the Rare Disease Day that performs a large scale analysis of inversions across diverse datasets! Many congratulations to the first author Tugce Bozkurt and Claudia M Carvalho lab and GREGoR Consortium nature.com/articles/s4143…

Thank you so much for attending our #RareDiseaseDay celebration and, most importantly, for all your wonderful research and clinical work Andrea Gropman !

This movie is about the power of love and resiliency in challenging times. A story that repeat itself over and over, in distinct cultures, countries, languages. Will we ever learn?

Stand up for Science in Seattle!

The mood was defiant at many of the rallies, where chants of “Scientists will not be silenced”, “Facts over fear” and “What do we want? Peer review! When do we want it? Now!” were heard. go.nature.com/43rWyFG

What happens when scientists, clinicians & patient advocates come together? Big ideas, powerful conversations & new collaborations to drive rare disease research forward. Catch the highlights from the #RDD2025 symposium hosted by PNRI and PNRI’s and Seattle Children's's!

At #ACMG25? 🧬 Don't miss Moez Dawood presenting "GREGoR: Accelerating Genomics for Rare Diseases" Friday 3/20 at 1:30pm PST Platform Session 8 Preprint here: pubmed.ncbi.nlm.nih.gov/39764392/ #Genomics #Research #Collaboration GREGoR Consortium

cell.com/ajhg/fulltext/…

On #RareDiseaseDay, families, scientists & advocates united to share powerful stories & breakthroughs shaping the future of #RareDiseaseResearch. When you're 1 in 300, science is a lifeline. Watch the recap. Feel the momentum: youtu.be/QM8u4SXzBGw #RDD2025

New on YouTube: March's Science Matters seminar is live! Dr. Richard Gibbs from Baylor College of Medicine dives into how genetics and genomics are transforming digital medicine. Watch now: youtube.com/watch?v=4YPVnY… #ScienceMatters #PNRIgenetics

Join Dr. Seema Lalani from BCMHouston for PNRI’s Science Matters FREE virtual seminar on April 23 at 12pm PT. She’ll share how Project GIVE uses virtual care to expand access to genetic services for kids with rare diseases. Register now: ow.ly/buzZ50VwYfF @MCBseattle

Join Dr. Shen (Linda) Gu, PhD, FACMG, as she discusses how her lab identifies novel disease-causing genes in patients and uncover how they function in the body using stem cell and animal models. Register today for free! ow.ly/gB4L50VKK3W #ScienceMatters #PrecisionMedicine

ASHG is concerned about the research cuts in the proposed U.S. FY26 budget, forecasting substantial reductions to the NIH & other agencies. We urge the U.S. Congress to reject this proposal & maintain support for life-saving biomedical research. Read More: ashg.org/publications-n…

It's official! ✨Abstract submissions now open for #ASHG25 🧬 Share your latest research in human genetics and genomics on a world-class stage 🗓️ Deadline: June 9, 2025, at 5 PM U.S. ET 🔗 Submit here: lnkd.in/e3Sjqw2x #humangenetics #genomics #ASHG

Our new paper is out in Science Magazine! By exploring the rich genetic diversity of Brazil, we show how fine-scale genomic analyses reveal that this diversity, rooted in Indigenous ancestry and centuries of complex demographic history, plays a key role in population health.

ASHG 2025 abstract submissions are open! 🔹 Abstract deadline: June 9, 5:00 PM ET 🔹 Free submissions for ASHG members, low-resource countries & NIH staff 🔹 Awards & journal opportunities for selected presenters #ASHG2025 #HumanGenetics #Genomics #ProgramCommittee #ASHG

Discover how repeat expansions drive neurological disorders with Dr. Valdmanis from UW Medicine at PNRI’s Science Matters FREE virtual seminar on June 11 at 12pm PT! Register now: ow.ly/tsHf50VXlyq @MCBseattle

Our preprint just got online in the American Journal of Human Genetics sciencedirect.com/science/articl… Many thanks to our postdoctoral fellow Archana Rai Dr. Rai and all the authors GREGoR Consortium Gabriella Miller Kids First Data Resource Center NIH NHLBI UTHealth Houston School of Public Health LupskiLab @ShaineMorris1