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!
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.
🙏 🙏 Really honored to receive the Oski Memorial Award and be able to participate in #ASPHO2026!! Thank you, @aspho-hq.bsky.social!
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.
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
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!
American Society of Pediatric Hematology/Oncology
www.biorxiv.org
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
Key Points. Deep proteomics defines a complete, contamination-free RBC proteome (3,775 proteins) and O2-dependent interactome by Xlinking proteomicsThe Ban
Day 3 at #ASPHO2026 was a success! Congrats to all of today's award recipients including, Dr. #KarenEffinger, Dr. #VijaySankaran, and Dr. #PeterNewburger.
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.
Vijay G. Sankaran
Jonathan Pritchard
Angelo D’Alessandro
Molly Przeworski
Vijay G. Sankaran
Vijay G. Sankaran
Durcabtagene autoleucel, a rapidly manufactured BCMA-directed CAR T cell therapy, was safe and efficacious in relapsed/refractory multiple myeloma.
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...
🚀 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...
Red blood cells (RBCs) have long been regarded as passive oxygen carriers, yet growing evidence reveals a complex, dynamic proteome independent of de novo gene expression. Here, we define the erythroc...
📢 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
