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Today we report in Nature Medicine the development of a base editing strategy for prion disease, currently a fatal and rapidly progressing neurogenerative condition with no effective treatment. @PrionAlliance DevermanLab (1/13) drive.google.com/file/d/1DVpKrz…

👂👓Calling Hearing & Ocular Genetics Professionals! We are exploring how functional data is used to interpret VUS in hearing loss and ocular disorders. If you're involved in variant interpretation, your expertise is invaluable! 👉 redcap.link/VUS_survey_hea…

We had so much fun with Putnam City Schools this week for our annual PC Jr. Scientist days! 🩵🧑‍🔬

I have hesitated to share this document I received earlier this year, mostly for my own sanity, but on this, the anniversary of my father's death, I feel obliged to share it in hope that it leads to someone somewhere having a better fate than him.

Love is in the air and in the lab at OMRF! 🧑‍🔬💕👩‍🔬 Check out OMRF's cutest couples on KOCO! koco.com/article/love-i…

About a month after Donald Trump took office, almost all grant-review meetings remain suspended at the US National Institutes of Health, preventing the world’s largest public funder of biomedical research from spending much of its US$47 billion annual budget.

We are excited to report the discovery of TIGRs, a widely-occurring RNA-guided system found in bacteria and their viruses. TIGRs consist of a peculiar repeat region which is transcribed into RNA and processed into multiple guide RNAs to direct TIGR-associated proteins to their

We are excited to announce the new Splicing Impact super track for hg38 and hg19. This super track includes AbSplice Scores, SpliceAI, and, for hg38, the new SpliceVarDB track. Learn more at genome.ucsc.edu/goldenPath/new….

Our paper "Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function" is now published in Nucleic Acids Res doi.org/10.1093/nar/gk…. This work was led by our super postdoc Sheng-Jia Lin * Several papers on F0 mutagenesis have been

So proud of the team for launching the first-ever national curriculum in genetic testing for pediatric neurologists through CNS! 🎉 Louis Dang Jeff Strelzik, MD Monique Terrell Follow me @DrYasminKhakoo.bsky.social (she/hers) Daniel Calame, MD, PhD Children's National Hospital 🏥 C.S. Mott Children's Neurology Educators: have you explored it yet?

Mitochondria community: Does anyone have a stable cell line expressing fluorescently labeled mitochondria and willing to share? Thank you

Our Collaborative paper on TRMT1, a tRNA-modifying enzyme, is out in AJHG. A team of human geneticists led by The Neurogenetics Lab ION, and Dr. Dragony Fu' labs identified 43 individuals from 31 families with biallelic TRMT1 variants. All affected individuals showed neurodevelopmental

🚨New paper alert!🚨 Our latest work uncovers how cells detect and destroy defective ribosomes before they cause harm. A key quality control pathway with implications for development and disease. #ribosome #qualitycontrol Check it out in Molecular Cell: authors.elsevier.com/a/1l2MA3vVUPVa…

U.S. Rep. Stephanie Bice highlighted OMRF at a congressional budget hearing yesterday involving the U.S. Department of Health and Human Services, which includes the National Institutes of Health. We thank you for sharing the vital impact and importance of biomedical research.

conta.cc/3Fivv5Z

Zebrafish people! The ZDMSociety annual meeting is in Boston this year, with a great lineup. Abstract submission is closing May 27th. Go register now for this always fun conference #zebrafish zdmsociety.org/zdm18-home

As part of our annual honors and awards ceremony yesterday, we presented a special award to Presbyterian Health Foundation for its role in supporting science at OMRF and in Oklahoma, plus eight of our scientists for their scientific achievements. ⭐ omrf.org/2025/05/21/omr…

OKC!!

My lab was totally destroyed tonight by an Iranian missile. Nobody was hurt. Flies, plasmids, cells, equipment - all gone. Heart breaking. If during the course of the past 16 years, you have received something from my lab - please keep them safe.