Vijay G. Sankaran

@bloodgenes.bsky.social

Pediatric Hematologist/Oncologist, Geneticist, Stem Cell Biologist bloodgenes.org

🙏 Deeply honored to receive the 2026 Warren Alpert Prize! This award reflects the work by so many to enable transformative therapies for sickle cell disease and thalassemia, and the power of human genetics to reveal biology and guide new treatments! hms.harvard.edu/news/2026-wa...

2026 Warren Alpert Foundation Prize Awarded for Gene-Editing Therapies

Five scientists recognized for contributions to cures for sickle cell disease and beta-thalassemia

hms.harvard.edu

Combined Optical Pooled Screens and Perturb-seq! Great new work by Romain Lopez & Taka Kudo. This is one of a series of papers from our lab (here, with Aviv Regev) using perturbations to interpret human genetics; a key revelation for me is how transferable the mouse perturbs are to human genetics.

Romain Lopez@biologicalml.org · 2mo ago

🚀 We are introducing PerturbPair (with Taka Kudo) — a platform that combines parallel Perturb-seq and optical pooled screening (PerturbView) in primary cells to systematically map at massive scale how genetic perturbations reshape cellular states across modalities. www.biorxiv.org/content/10.6...

I had such a wonderful time joining @stemcellpodcast for this conversation! It was a real pleasure to discuss how human genetics can illuminate 🩸 stem cell biology, hematopoiesis, and opportunities to develop better therapies. Thanks so much for having me!

Stem Cell Podcast@stemcellpodcast.com · 2mo ago

📢 Our next episode is out! Tune in to hear Dr. Vijay Sankaran (@bloodgenes.bsky.social) at the Harvard Stem Cell Institute discuss how his lab uses human genetics and stem cell biology to uncover mechanisms regulating #hematopoiesis and blood disease! 🎙️ https://bit.ly/4tWDOI3

Happy to highlight new findings by Vanesa Getseva and Lin Poyraz about the sources of variation in germline mutation rates among humans: www.biorxiv.org/content/10.6... Joint work with Anastasia Stolyarova and @ipsitaagarwal.bsky.social. 1/n

A sibling study of variation in parental mutation rates

People are born with variable numbers of de novo germline mutations (DNMs), depending primarily on the ages of their parents. To explore additional causes, we developed an approach to call DNMs from nucleotide differences between siblings in genomic regions inherited identical by descent from both parents. Applying it to whole genome sequences from 28,985 sibling pairs of diverse genetic ancestries present in the UK Biobank and All of Us datasets, as well as 2,330 trios, we identified >800K autosomal DNMs and characterized mutation phenotypes in 27,645 sets of parents. We found subtle shifts in the mutation spectrum but no differences in total DNM rates among genetic ancestry groups, or between smokers and non-smokers. Testing for associations between parental mutation phenotypes and their burden of loss-of-function and deleterious missense variants in a set of 180 DNA repair and maintenance genes, we discovered that disruptions in REV1 and LIG1 increase germline mutation rates, and thus that rare mutator alleles segregate in population cohorts. ### Competing Interest Statement The authors have declared no competing interest. NIH, R35 GM083098

biorxiv.org

Wonderful to spend time hiking with our incredible team! Grateful for this remarkable group and inspired every day by their creativity, dedication, kindness, and teamwork - both in and outside the lab. 🩸🧬

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