bloodgenes.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

Excited to share Benson’s and Maria’s work in collab w/Kostas Tzelepis: we found the nucleolar protein NPM1 is a marker of AML and can be targeted therapeutically connecting ‘cell surface RNA biology’ to cancer biology @natbiotech.nature.com www.nature.com/articles/s41...

submitted 4 hours ago • 3 comments

Wow!!! Congratulations, Ari!!!

submitted 1 day ago • 0 comments

The first JHI articles are online! Poli et al present the 2024 update of the @iuis-online.bsky.social classification of #InbornErrorsOfImmunity (rupress.org/jhi/article/...) & Bousfiha et al provide an accompanying phenotypic classification to assist clinical diagnoses (rupress.org/jhi/article/...)

submitted 7 days ago • 0 comments

This powerful and unbiased way to identify links between genetic variants and biological traits has changed scientists’ understanding of complex diseases and how to treat them https://go.nature.com/3RPTMTG

submitted 7 days ago • 1 comment

New review @jem.org from Schmitz et al. @macattacklab.bsky.social explores the identification of somatic variants as a cause of #InbornErrorsOfImmunity, including the identification of somatic variants and the mechanisms by which they might lead to immunologic disease. rupress.org/jem/article/...

submitted 7 days ago • 0 comments

Published an op-ed for @cnn.com: “Nobel laureate: I owe America my success. Today, its scientific future is in danger.” A personal reflection on what’s at stake as science funding gets slashed. I’d be grateful if you could amplify both in and beyond the science world. www.cnn.com/2025/04/09/h...

submitted 14 days ago • 15 comments

Thrilled to share the first pre-print from our lab! We tackled a big question: Why are some pediatric leukemias extremely aggressive? We explored the developmental origins of fusion-driven acute myeloid leukemia (AML). Let's dive in! #AML #NUP98 A thread... n/13

submitted 15 days ago • 1 comment

Inspiring quote from @adamgrant.bsky.social's Podcast today: @adamgrant.bsky.social: "Best life advice?" @danielgilbert.bsky.social: "My father... said to me you will think for your entire career that your research is what matters most, but then you will get old and realize it was the students."

submitted 15 days ago • 0 comments

Aneuploidy is the leading cause of pregnancy loss. In work led by @saracarioscia.bsky.social and @aabiddanda.bsky.social, we reanalyzed genetic testing data from 139,416 IVF embryos to discover variants associated with recombination phenotypes and aneuploidy risk. www.medrxiv.org/content/10.1...

submitted 16 days ago • 1 comment

Delighted to have our Perturb-multiome paper, led by #JorgeMartinRufino and @hemagene.bsky.social from our lab, published today in @science.org. Please check out this powerful approach to decipher gene regulatory networks enriched for genetic variation: www.science.org/doi/10.1126/...

submitted 19 days ago • 2 comments

WOW 🤯 !!!

submitted 22 days ago • 0 comments

📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬 www.medrxiv.org/content/10.1... 🧵👇 (1/n)

submitted 30 days ago • 3 comments

I wrote about how population stratification in genetic analyses led to a decade of false findings and almost certainly continues to bias emerging results. But we are starting to have statistical tools to sniff it out. A 🧵:

submitted 25 days ago • 8 comments

What protects individuals from developing blood cancers? Thrilled to share my work in @bloodgenes.bsky.social lab, describing inherited resilience protecting blood stem cells from clonal hematopoiesis by modifying RNA regulation. 🧵👇 (1/n) www.biorxiv.org/content/10.1...

submitted 26 days ago • 3 comments

Spatial transcriptomic imaging of an intact organism using volumetric DNA microscopy - @jaweinst.bsky.social @uchicagopme.bsky.social go.nature.com/42hJ1Q2

submitted 27 days ago • 3 comments

So proud of this incredible work from @g-agarwal.bsky.social from our group with help from many fantastic folks in our lab and inspiring collaborators, including @kharaslab.bsky.social, Alex Bick, @yashpershad.bsky.social, and many others! Please check out Gaurav's awesome 🧵👇👇

submitted 26 days ago • 1 comment

Check out our new paper in @nature that reports genetic mechanisms of neural tube defects in patients. Spina bifida is also known as meningomyelocele (MM). Prior family-based and association studies found only a few linked genes, so we took a different approach. www.nature.com/articles/s41...

submitted 27 days ago • 2 comments

I’m excited to share the latest work from our lab, led by a group of three amazing scientists: Junbing Zhang, Yousuf Ali and Harrison Chong, who describe @nature the discovery of a ROS sensor, VPS35, which links cytosolic H2O2 levels to regulation of mitochondrial translation and

submitted 27 days ago • 4 comments

Fantastic to write this Spotlight piece for @cp-trendsmolecmed.bsky.social with @sshelton.bsky.social that covers an exciting recent @nejm.org study (www.nejm.org/doi/full/10....): authors.elsevier.com/a/1koWQ5Eb1B...

submitted 30 days ago • 0 comments

@samanthasedor.bsky.social's pet project taking us into completely new directions is out in print form! rdcu.be/edKuA

submitted 37 days ago • 0 comments

A prolonged period of extreme lethargy seems to slow ageing in mice by lowering their core body temperature https://go.nature.com/4bCWk0z

submitted 39 days ago • 4 comments

Huge congratulations to this incredible group!!! 👏👏👏

submitted 42 days ago • 1 comment

Much will be written about how 4 PhD students and a PhD –Colette Delawalla, Sam Goldstein, Emma Courtney, Leslie Berntsen & JP Flores – organized @standupforscience.bsky.social to unite scientists in the US and worldwide. Now let's keep the momentum going to defend science! bsky.app/starter-pack...

submitted 45 days ago • 3 comments

I think it's important to reach out to your own community and explain what the funding cuts mean in practice.

submitted 45 days ago • 8 comments

Tens of thousands of patients get hematopoietic stem cell transplants for cancers every year and it is standard of care for many cancers... Would this be controversial or do they only mean embryonic stem cells? 🤦

submitted 46 days ago • 0 comments

A prolonged torpor-like state - in which mice drop their body temperature and lower metabolic activity - slows down epigenetic changes that accompany aging. New work from the Hrvatin lab out now in @natureaging.bsky.social: wi.mit.edu/news/manipul...

submitted 47 days ago • 0 comments

Congratulations to @danafarber.bsky.social’s Lara Wahlster, MD, PhD, and Nina Weichert-Leahey, MD, for receiving the American Society for Clinical Investigation Emerging-Generation Awards. Read about Dr. Wahlster at bit.ly/4haxdTW and Dr. Weichert-Leahey at bit.ly/4h6BYxL.

submitted 47 days ago • 0 comments

Delighted to share my PhD thesis work is now published in @nature.com! This study tracks the journey of blood stem cells in aging mice, examining how the clonal dynmics of blood production change over time. A short 🧵1/n #aging #stemcells #clonalhematopoiesis www.nature.com/articles/s41...

submitted 48 days ago • 7 comments

We are delighted to announce our most recent class of Damon Runyon Fellows! These 13 scientists will receive four years of independent funding to investigate cancer causes, mechanisms, therapies, and prevention. Read more: www.damonrunyon.org/news/entries...

submitted 47 days ago • 0 comments

Incredibly proud of Teng Gao from our lab, who is a recipient of the @[email protected] fellowship!!! Congratulations, Teng!! www.damonrunyon.org/news/entries...

submitted 48 days ago • 0 comments

Our paper describing a new statistical method to call mitochondrial mutations for lineage tracing in single cell data is now online. Wenjie Sun made a package very fast and easy to use, enjoy! academic.oup.com/bib/article/...

submitted 49 days ago • 1 comment

🔥 New Fraticelli lab publication🔥 “Pre-existing stem cell heterogeneity dictates clonal responses to the acquisition of leukemia driver mutations” Now at Cell Stem Cell, with two new figures, in vivo, and sequential mutagenesis data. Performed with the support of Cris Cancer and @erc.europa.eu

submitted 56 days ago • 9 comments

👇

submitted 50 days ago • 0 comments

Now online! Safeguarding the future of biomedical science in the United States

submitted 53 days ago • 1 comment

I talked to NIH officials, current and former, about what's been happening inside the agency since the Trump administration shut down their grantmaking pipeline in January. Their stories showed just how willing our new leaders are to break the law: www.theatlantic.com/health/archi...

submitted 54 days ago • 27 comments

Guardian story about Federal Register issue is up. www.theguardian.com/us-news/2025...

submitted 59 days ago • 6 comments

The National Institutes of Health had to stop considering new grant applications, delaying funding for research into diseases ranging from heart disease and cancer to Alzheimer's and allergies.

submitted 59 days ago • 170 comments

New York Times article now up on Federal Register stuff. www.nytimes.com/2025/02/21/s... 1/n

submitted 60 days ago • 17 comments

Recursion CEO Chris Gibson: Publicly funded research built the biopharma industry. Now it needs our help. Companies with resources must bridge the gap. 👏 $RXRX via @statnews.com www.statnews.com/2025/02/19/n...

submitted 63 days ago • 1 comment