Vijay G. Sankaran
@bloodgenes.bsky.social
Pediatric Hematologist/Oncologist, Geneticist, Stem Cell Biologist bloodgenes.org
In what has been a labor of love & joyful collaboration, we are super excited to share our preprint on recommendations towards the ethical and accurate use of population descriptors generated from a survey by trainees, for trainees. www.biorxiv.org/content/10.6...
Recommendations for the ethical and accurate use of population descriptors: a trainee-led survey of early-career researchers
Despite the importance of population descriptors in human genomics research, many scientists struggle to translate evolving ethical guidelines into their computational workflows. To characterize this ...
biorxiv.org
New preprint from the group, comparing CRISPRko and CRISPRi via a Perturb-seq readout: www.biorxiv.org/content/10.6...
Direct comparison of CRISPR knockout and interference with Perturb-seq
CRISPR knockout (CRISPRko) and CRISPR interference (CRISPRi) are two workhorse technologies for loss-of-function studies, yet direct comparisons between the two are scant relative to their widespread ...
biorxiv.org
Now online in Cancer Discovery @aacrjournals.bsky.social: Germline CDK12 Variants in Aggressive Prostate Cancer - by Sofie Tolmeijer, Colin Pritchard, Alexander Wyatt, and colleagues doi.org/10.1158/2159...
📅 Mark Your Calendars! The Hematologic Malignancies Conference is back for its second series! 🗓️ 01–04 November 2027 📍 Playa Mujeres, Mexico 🔔 Don't miss out! Sign up for updates and be the first to know when registration opens: bit.ly/4wiGXDJ
🙏 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
(1/n) Very excited to share tri-lab collab (Mirny & Zechner) led by Harvey, Henrik & Jack: Q: How do enhancers & promoters interact in space (contact vs. action-at-a-distance) and time (stable vs. transient)? A: Transient E-P contact (~25-42 nm lasting ~10-20 sec): www.biorxiv.org/content/10.6...
🩸🧬 Dendritic cells are rare but key players in immunity. In a new preprint led by @ofircohn.bsky.social, we generate a single-cell multi-omic atlas of human dendritic cell differentiation to reveal links to immune-mediated disease: www.biorxiv.org/content/10.6...
Now out in Blood @ash.hematology.org @bloodjournals.hematology.org ashpublications.org/blood/articl... Really proud of this one, and grateful to the reviewers for the constructive criticism. It really is a much better paper now!
The red blood cell proteome and interactome identify a Band 3-BLVRB axis regulating hypoxic metabolic adaptation
Key Points. Deep proteomics defines a complete, contamination-free RBC proteome (3,775 proteins) and O2-dependent interactome by Xlinking proteomicsThe Ban
ashpublications.org
Labor of love announcement: Red blood cells make up 83% of the cells in the human body. Mature RBCs lack nuclei (no gene expression) and organelles, and >90% of their dry weight is hemoglobin. Yet we have lacked a clean, contamination-free map of their proteome. Until now. doi.org/10.1101/2025...
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.
🚀 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...
Excited that our paper describing a phase 1 trial of ducabtagene autloeucel, a rapidly manufactured anti-BCMA CAR-T in r/r multiple myeloma, was published. #ScienceTranslationalMedicine Huge thanks to all my co-authors, the teams at @danafarber.bsky.social and Novartis, and to our patients.
Efficacy and safety of durcabtagene autoleucel in a phase 1 trial for patients with relapsed/refractory multiple myeloma
Durcabtagene autoleucel, a rapidly manufactured BCMA-directed CAR T cell therapy, was safe and efficacious in relapsed/refractory multiple myeloma.
science.org
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!
📢 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
1/8 🚨 New preprint from the @sternberglab.bsky.social & @martinjinek.bsky.social labs! CRISPR-associated transposases (CASTs) insert large DNA cargoes at precise genomic locations — no double-strand breaks needed.
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. 🩸🧬
Thanks to all #ASPHO2026 attendees, speakers and presenters, Conference Chair #JessicaHeath, Vice Chair #CaitlinNeri and the Conference Planning Committee! See you in Montrẻal for #ASPHO2027 - Tuesday May 11 - Friday May 14!
🙏 🙏 Really honored to receive the Oski Memorial Award and be able to participate in #ASPHO2026!! Thank you, @aspho-hq.bsky.social!
Day 3 at #ASPHO2026 was a success! Congrats to all of today's award recipients including, Dr. #KarenEffinger, Dr. #VijaySankaran, and Dr. #PeterNewburger.
🚨 Excited to share a new paper in Cell! Human genetics led us to HOTSCRAMBL, a HOXA-locus lncRNA that regulates 🩸#stemcell self-renewal and HOXA9 splicing, with implications for AML. Amazing work by @lvchosen1.bsky.social with many others! www.cell.com/cell/fulltex...
New work from Sashi Weerawarana on how TFAM compacts mitochondrial DNA 🧬 TFAM oligomerizes on DNA to form compact, homogeneous higher-order complexes (see beautiful mass photometry data below), that still retain dynamic behavior. Congratulations Sashi and Wei. www.biorxiv.org/content/10.6...
Genome editing of blood stem cells to make therapeutic antibodies on demand! + applications for programming a factory of other proteins New @science.org science.org/doi/10.1126/... science.org/doi/10.1126/...
Saddened to learn of the death of Greg Hannon, a former CSHL colleague and giant of modern molecular biology www.cruk.cam.ac.uk/news/in-memo...
In Memoriam: Professor Greg Hannon (1964–2026) - Cancer Research UK Cambridge Institute
Greg was already a world-renowned scientist when appointed Director, and for the community, he was a visionary leader, a cherished mentor, and a singular force of nature whose influence shaped the research landscape.
cruk.cam.ac.uk
I wrote about why every lab should have AI use guidelines, and how to do it. open.substack.com/pub/blekhman...
You need to make AI guidelines for your lab
Here's why you should, and how to start
open.substack.com
Our paper is now out in Science! Super excited to share our discovery that #mitochondria #pearling is the elusive mechanism driving the regular distribution and inheritance of #mtDNA nucleoids 🧬 [1/6]
❓A one-time, durable, and even reversible way to prevent thrombosis? In this preprint, led by @lrbzldz.bsky.social, we show that epigenome editing of 🩸 #StemCells can durably reprogram platelet function: www.biorxiv.org/content/10.6...
Amazing documentary on cystic fibrosis 🫁 and Michael Welsh’s extraordinary contributions to therapies that have transformed so many lives: www.youtube.com/watch?v=PIXC...
Giving Back Breath: How an Iowa doctor led a breakthrough cystic fibrosis treatment
YouTube video by DMRegister
youtube.com
Our thymus gland, neglected and assumed to be non-functional in adults, is taking center stage for healthy aging. Two new landmark studies erictopol.substack.com/p/your-thymu...
Your Thymus and Your Healthspan
New landmark studies using AI to determine thymus health and its link to major outcomes
erictopol.substack.com
🚨🧬🩸 Delighted to have this @naturerevgenet.bsky.social review w/ Michael Poeschla published today - Genetic Influences on #hematopoiesis: rdcu.be/e9vlD
Genetic influences on haematopoiesis
Nature Reviews Genetics - Haematopoiesis is a classic process for understanding the genetic basis of human health and disease. In this Review, Poeschla and Sankaran discuss this history and more...
rdcu.be