Vijay G. Sankaran
@bloodgenes.bsky.social
📤 3224
📥 1209
📝 179
Pediatric Hematologist/Oncologist, Geneticist, Stem Cell Biologist bloodgenes.org
reposted by
Vijay G. Sankaran
Keystone Symposia
about 2 hours ago
Abstracts & scholarship apps for
#KSHemato26
are due Oct 29—but
@beaudinlab.bsky.social
explains why you should submit early! 🎥
youtu.be/FcO6D87EC_Q
Join us Feb 23–26, 2026 in Keystone, CO 👉
keysym.us/KSHemato26
@bloodgenes.bsky.social
#hematopoiesis
#bonemarrow
#hematopoieticstemcells
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KSQA: Dr. Anna Beaudin (Hematopoiesis)
YouTube video by KeystoneSymposia
https://youtu.be/FcO6D87EC_Q
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reposted by
Vijay G. Sankaran
Til Steinicke
3 days ago
Epigenetic diagnosis of acute leukemia within two hours from sample receipt 🚀 Very happy to share the results of a great collaboration between
@hovestadt.bsky.social
and Griffin Labs, I co-led with
@sbenfatto.bsky.social
, published today in
@natgenet.nature.com
📄
www.nature.com/articles/s41...
🧵1/n
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Rapid epigenomic classification of acute leukemia - Nature Genetics
The authors present a molecular classification of acute leukemia using 5-methylcytosine signatures, together with a neural network-based classifier for clinical use.
https://www.nature.com/articles/s41588-025-02321-z
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reposted by
Vijay G. Sankaran
Yun S. Song
4 days ago
We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics.
www.biorxiv.org/content/10.1...
(1/n)
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Such an important article on the challenges facing our ability to develop 🧬 gene therapies for genetic 🩸 disorders:
www.nytimes.com/2025/09/22/h...
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These Patients Got the Cure. Then It Went Away.
https://www.nytimes.com/2025/09/22/health/gene-editing-rare-diseases-fda.html
3 days ago
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reposted by
Vijay G. Sankaran
American Society of Pediatric Hematology/Oncology
5 days ago
Today is World Marrow Donor Day! We hope you will join us today in thanking the selfless individuals who register and donate stem cells to save the lives of patients in need.
#WMDD25
#PedsHemeOnc
#PHODocs
#hematology
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reposted by
Vijay G. Sankaran
Trevor Graham
15 days ago
Studying cancer evolution needs multi-region or single cell seq for phylogenetics, right? Amazingly (I think!) we found single-sample bulk methylation suffices, via analysis of "fluctuating methylation". In
@nature.com
today led by brilliant
@calumgabbutt.bsky.social
www.nature.com/articles/s41...
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Fluctuating DNA methylation tracks cancer evolution at clinical scale - Nature
Cancer evolutionary dynamics are quantitatively inferred using a method, EVOFLUx, applied to fluctuating DNA methylation.
https://www.nature.com/articles/s41586-025-09374-4
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Congratulations to this amazing group who received the
@laskerfdn.bsky.social
awards!!!
www.nytimes.com/2025/09/11/h...
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Major Medical Prizes Given to Cell Biology and Cystic Fibrosis Pioneers
https://www.nytimes.com/2025/09/11/health/lasker-awards-medicine.html
14 days ago
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www.nytimes.com/2025/09/08/o...
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Opinion | We Are Watching a Scientific Superpower Destroy Itself
https://www.nytimes.com/2025/09/08/opinion/universities-science-trump-china.html
17 days ago
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reposted by
Vijay G. Sankaran
Seth Shipman
17 days ago
Check out MitoScribe in our new preprint led by Linhan Wang:
www.biorxiv.org/content/10.1...
It's an analog molecular recorder that uses neutral base edits to the mitochondrial genome to store information about historical signaling in a cell. Single cell resolution at scale (see next post)!
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RIP David. So fortunate to have had the opportunity to interact with David and to have worked with many of his trainees, including his last graduate student.
www.nytimes.com/2025/09/07/s...
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David Baltimore, Nobel-Winning Molecular Biologist, Dies at 87
https://www.nytimes.com/2025/09/07/science/david-baltimore-dead.html
18 days ago
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Vijay G. Sankaran
Peter van Galen
20 days ago
Excited to share our latest work on blood aging! To find out why the blood system changes as people age, we started at the source: hematopoietic stem cells (HSCs)
#hemesky
🩸🧬
doi.org/10.1101/2025...
🧵 1/5
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reposted by
Vijay G. Sankaran
Molly Przeworski
23 days ago
In these dark times, it comes as a rare pleasure to highlight
@natanaels.bsky.social
&
@marcdemanuel.bsky.social
's work on germline and somatic mutations in humans. 1/n
www.biorxiv.org/cgi/content/...
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Collateral mutagenesis funnels multiple sources of DNA damage into a ubiquitous mutational signature
Mutations reflect the net effects of myriad types of damage, replication errors, and repair mechanisms, and thus are expected to differ across cell types with distinct exposures to mutagens, division ...
https://www.biorxiv.org/cgi/content/short/2025.08.28.672844v1
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reposted by
Vijay G. Sankaran
Eric Topol
28 days ago
Your DNA sequence reveals a rare mutation. Will you get the disease, i.e. penetrance? A new study using machine learning predicts this across 10 common diseases, 1,600 genomic variants New
@science.org
science.org/doi/10.1126/...
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Grateful for this terrific commentary by
@tomonroe.bsky.social
in
@jclinical-invest.bsky.social
on our paper that is out in final print format today:
www.jci.org/articles/vie...
Please check it out:
www.jci.org/articles/vie...
about 1 month ago
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reposted by
Vijay G. Sankaran
Idoyaga Lab
about 1 month ago
Delighted to share that our
@natimmunol.nature.com
paper has now a fantastic News & Views 🔗
www.nature.com/articles/s41...
Thank you,
@esegura-lab.bsky.social
, for a clear and thoughtful summary 🙏 And thanks to our 3 amazing reviewers: your feedback made this work stronger. Peer review at its best!
add a skeleton here at some point
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reposted by
Vijay G. Sankaran
Peter van Galen
about 1 month ago
Online today! *Aging, Immune Fitness and Cancer* 🔬 Learn the latest about the intersection between these processes in
@natrevcancer.nature.com
🧬 Great to work with
@sandramcallister.bsky.social
lab again 😁
doi.org/10.1038/s415...
add a skeleton here at some point
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reposted by
Vijay G. Sankaran
Adam MacLean
about 1 month ago
Online now! Tumor dynamics & spatial proteomics-informed personalized predictions of growth & response Beyond RECIST: mathematical modeling and Bayesian inference reveal the importance of immune parameters in metastatic breast cancer
www.biorxiv.org/content/10.1...
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Amazing choice for this incredible program! Meeting Alice 22 years ago had a lasting impact on my career trajectory!
add a skeleton here at some point
about 1 month ago
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reposted by
Vijay G. Sankaran
James Olzmann
about 2 months ago
Excited to share our new preprint, led by Kirandeep Deol! 🤩 Genetic screens uncover mechanisms regulating FSP1 abundance in cancer. Vitamin B2 metabolism promotes FSP1 stability via FAD synth / binding, further linking nutrient metabolism to ferroptosis.
www.biorxiv.org/content/10.1...
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Vitamin B2 metabolism promotes FSP1 stability to prevent ferroptosis
Ferroptosis, a regulated form of cell death driven by excessive lipid peroxidation, has emerged as a promising therapeutic target in cancer. Ferroptosis suppressor protein 1 (FSP1) is a critical regul...
https://www.biorxiv.org/content/10.1101/2025.08.05.668752v1
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reposted by
Vijay G. Sankaran
Pedro Friedmann Angeli
about 2 months ago
🚨Preprint alert 🚨 We identify riboflavin (vitamin B₂) as a key modulator of ferroptosis sensitivity via stabilizing FSP1 & recycling lipid-soluble antioxidants.
www.biorxiv.org/content/10.1...
. pls check
@olzmannlab.bsky.social
www.biorxiv.org/content/10.1...
#ferroptosis
#FSP1
#antioxidants
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Riboflavin metabolism shapes FSP1-driven ferroptosis resistance
Membrane protection against oxidative insults is achieved by the concerted action of glutathione peroxidase 4 (GPX4) and endogenous lipophilic antioxidants such as ubiquinone and vitamin E. Deficienci...
https://www.biorxiv.org/content/10.1101/2025.08.05.668651v1#:~:text=Furthermore%2C%20we%20show%20that%20the,membrane%20tolerance%20to%20lipid%20peroxidation
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reposted by
Vijay G. Sankaran
Nature Reviews Genetics
about 2 months ago
New online! Towards improved fine-mapping of candidate causal variants
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Towards improved fine-mapping of candidate causal variants
Nature Reviews Genetics, Published online: 28 July 2025; doi:10.1038/s41576-025-00869-4Fine-mapping aims to distinguish between the causal and non-causal genetic variants identified in genome-wide association studies of complex traits. In this Review, Li and Zhou cover the recent methodological advances of fine-mapping, including the refined modelling assumptions, improved computational efficiency and incorporation of additional information to expand biological insights.
https://www.nature.com/articles/s41576-025-00869-4?utm_source=dlvr.it&utm_medium=bluesky
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reposted by
Vijay G. Sankaran
Vikram Agarwal
2 months ago
Very excited that our most significant work, a collaboration w/ Dr. Can Cenik at UT Austin on translational gene regulation, was finally published in Nature Biotechnology in a dual set of studies: Paper 1 -- an AI model trained to predict translation rates from mRNA sequences:
rdcu.be/exN1l
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Predicting the translation efficiency of messenger RNA in mammalian cells
Nature Biotechnology - A deep convolutional neural network model predicts the influence of the full-length mRNA sequence on translation efficiency.
https://url.de.m.mimecastprotect.com/s/4OWmC36zDVFg1G2rvTgfliQx9_J?domain=rdcu.be
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reposted by
Vijay G. Sankaran
Simon Fisher
2 months ago
Telomere-to-telomere DNA sequencing is set to transform the field of human genetics in coming years. For a flavour of what's coming, see this exciting work on nearly complete genomes of 65 individuals from diverse populations, out today in
@nature.com
by
@glennislogsdon.bsky.social
& colleagues. 👇🧬🧪
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Complex genetic variation in nearly complete human genomes - Nature
Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.
https://www.nature.com/articles/s41586-025-09140-6
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reposted by
Vijay G. Sankaran
Doug Fowler
2 months ago
Interested in using functional data to understand clinical variants? Been hunting for a good review of the topic? We just wrote one!
rdcu.be/exaEU
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Multiplexed assays of variant effect for clinical variant interpretation
Nature Reviews Genetics - Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et...
https://www.nature.com/articles/s41576-025-00870-x.epdf?sharing_token=v0CPDaCKpk7r5W5jMnGWNdRgN0jAjWel9jnR3ZoTv0MnIq6f9qgmeoIbzF7Yzo2dnJugRVV4uytQjlPei91o7P8-jmfy3pfEn-QPWx8TxU6I9fsa5G6LkUYWP1fpoZCZcdAMd1PfQZG9Rxyt8yD-kqdyiqoy607NMF3TIo9ojfw%3D
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Full text is now up 🩸🧬:
www.biorxiv.org/content/10.1...
add a skeleton here at some point
2 months ago
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reposted by
Vijay G. Sankaran
Ivan Zanoni
2 months ago
#EpigeneticPower
! 💥
#NewPaperAlert
! We show
@cp-immunity.bsky.social
that endogenous oxidized lipids decide whether host survives or dies during
#sepsis
,
#ARDS
, or Staph infection! Ox lipids bind & inhibit
#AKT
, boosting inhibitory H3K27 methylation via EZH2 & blocking
#IL10
!
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Epigenetic silencing of interleukin-10 by host-derived oxidized phospholipids supports a lethal inflammatory response to infections
Upon pathogen detection, phagocytes trigger immunity. This process induces tissue stress and the formation of host-derived molecules that further tune immune responses. We show that host-derived oxidi...
http://dlvr.it/TLz06t
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Delighted to have our preprint led by
@lvchosen1.bsky.social
up: Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells
biorxiv.org/content/10.1...
🧵 below ...
2 months ago
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reposted by
Vijay G. Sankaran
Eric Topol
2 months ago
A big day for preventing mitochondrial diseases from transmitting to the next generation
www.nature.com/articles/d41...
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
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Wow!!! Big advance for women with pathogenic mitochondrial DNA variants in
@nejm.org
!
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
2 months ago
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reposted by
Vijay G. Sankaran
Molly Przeworski
2 months ago
New paper by Luke O'Connor
@lukeoconnor.bsky.social
and Guy Sella
@gs2747.bsky.social
add a skeleton here at some point
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reposted by
Vijay G. Sankaran
Pradeep Natarajan
2 months ago
Delighted to collaborate on this work led by
@kellybolton.bsky.social
describing how germline genetic variation influences the trajectory of clonal hematopoiesis to hematologic malignancy
www.nature.com/articles/s41...
@natureportfolio.nature.com
@broadinstitute.org
@mgbresearch.bsky.social
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Really valuable resource in
@natcellbio.nature.com
from
@ninacabezas.bsky.social
and team - Metabolomic and lipidomic profiling of human hematopoietic stem and progenitor cells:
www.nature.com/articles/s41...
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Differentiation, ageing and leukaemia alter the metabolic profile of human bone marrow haematopoietic stem and progenitor cells - Nature Cell Biology
Lalioti, Romero-Mulero et al. combine metabolomics, lipidomics and transcriptomics of haematopoietic stem and progenitor cells during differentiation, ageing and leukaemia, finding a role for choline ...
https://www.nature.com/articles/s41556-025-01709-7
2 months ago
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reposted by
Vijay G. Sankaran
Paul Thomas
2 months ago
How much of the TCR repertoire can we make sense of? Can your TCR and GEX data be put in the context of other conditions/tissues? How many varieties of T cells are in the repertoire zoo? All these questions (& more) addressed in our latest preprint: MetaCoNGA
www.biorxiv.org/content/10.1...
. a 🧵
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Diverse modes of T cell receptor sequence convergence define unique functional and cellular phenotypes
Single-cell techniques allow concurrent study of gene activity and T cell receptor (TCR) sequences, identifying connections between TCR structure and cell traits. Expanding on our CoNGA software, we p...
https://www.biorxiv.org/content/10.1101/2025.05.31.657155v1
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Wow!!! Such a wonderful choice! Congratulations,
@neilshubin.bsky.social
!!!
add a skeleton here at some point
2 months ago
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reposted by
Vijay G. Sankaran
Ruth Franklin
3 months ago
🎉 Over the moon to share the first paper from my lab!! We discovered an unexpected role for the cytokine OSM in lung epithelial homeostasis and repair. 🧵 1/n
www.science.org/doi/10.1126/...
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Macrophage-derived oncostatin M repairs the lung epithelial barrier during inflammatory damage
Tissue repair programs must function alongside antiviral immunity to restore the lung epithelial barrier following infection. We found that macrophage-derived oncostatin M (OSM) counteracted the patho...
https://www.science.org/doi/10.1126/science.adi8828
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Amazing to see the broadening reach of HSC transplant-based therapies!!! 🩸 -> 🧠
www.science.org/doi/10.1126/...
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Microglia replacement halts the progression of microgliopathy in mice and humans
Colony-stimulating factor 1 receptor (CSF1R) is primarily expressed in microglia. Its monoallelic mutation causes CSF1R-associated microgliopathy (CAMP), a major form of adult-onset leukoencephalopath...
https://www.science.org/doi/10.1126/science.adr1015
3 months ago
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reposted by
Vijay G. Sankaran
Lison Joseph
3 months ago
Child walks again after receiving experimental treatment for rare genetic condition
www.statnews.com/2025/07/09/n...
via
@statnews.com
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Child walks again after receiving experimental treatment for rare genetic condition
NYU Langone researchers have helped an 8-year-old boy regain mobility using an experimental treatment.
https://www.statnews.com/2025/07/09/nyu-langone-scientists-use-biochemical-discovery-to-treat-child-with-coq10-hpdl-deficiency/
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reposted by
Vijay G. Sankaran
Evgeny Kvon
3 months ago
Our paper describing the Range Extender element which is required and sufficient for long-range enhancer activation at the Shh locus is now available at
@nature.com
. Congrats to
@gracebower.bsky.social
who led the study. Below is a brief summary of the main findings
www.nature.com/articles/s41...
1/
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Range extender mediates long-distance enhancer activity - Nature
The REX element is associated with long-range enhancer–promoter interactions.
https://www.nature.com/articles/s41586-025-09221-6
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reposted by
Vijay G. Sankaran
Journal of Human Immunity
3 months ago
[email protected]
,
@romberglab.bsky.social
and
@bloodgenes.bsky.social
review how genetic variation impacts early B cell development, & discuss inherited rare variants & more common polymorphisms that predispose to B cell-related immune disorders & malignancies
rupress.org/jhi/article/...
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Wow!!! 👏👏👏 Amazing to see this develop over the years!
www.nytimes.com/2025/06/20/h...
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People With Severe Diabetes Are Cured in Small Trial of New Drug
https://www.nytimes.com/2025/06/20/health/diabetes-cure-insulin-stem-cell.html
3 months ago
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reposted by
Vijay G. Sankaran
euanashley
3 months ago
Atul Butte died yesterday. The world lost a giant. A big bear of a man. With a huge smile. With love for everyone. With energy that could power a room. I loved everything about Atul. I loved how he was always happy. I loved how excited he was about science and helping people.
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Vijay G. Sankaran
Jeremy Berg
4 months ago
UPDATE ON NON-COMPETITIVE RENEWALS Since I always want to get the facts right, I checked NIH Reporter this morning. Part of the issue was unusually slow uploading of data to NIH Reporter (more NIH dysfunction, just different). Better, but still fewer than half of the awards due in May were made.
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reposted by
Vijay G. Sankaran
Eric Topol
7 months ago
Who funds biomedical research?
@nature.com
www.nature.com/articles/d41...
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reposted by
Vijay G. Sankaran
Lisa Jarvis
4 months ago
The proposed deep cuts to the NIH budget will hit biotechs-in fact, the upheaval already is affecting some. In addition to hobbling academia, where innovation starts, it'll shrink the gov seed $ that tiny firms, esp those outside biotech hubs, rely on. My latest
@opinion.bloomberg.com
(🎁 link):
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Biotech Start-Ups Feel the Pain of Federal Funding Cuts
Government grants are critical to the research ecosystem, and patients will suffer.
https://www.bloomberg.com/opinion/articles/2025-06-10/white-house-nih-cuts-will-worsen-biotech-start-ups-woes?accessToken=eyJhbGciOiJIUzI1NiIsInR5cCI6IkpXVCJ9.eyJzb3VyY2UiOiJTdWJzY3JpYmVyR2lmdGVkQXJ0aWNsZSIsImlhdCI6MTc0OTU1NDk3NiwiZXhwIjoxNzUwMTU5Nzc2LCJhcnRpY2xlSWQiOiJTWE1ZSUNUMEFGQjQwMCIsImJjb25uZWN0SWQiOiJBQkE5NzNFNjA3NkQ0NjMyODJFMDAyN0QyM0JDNTg5MyJ9.VAS1z9b01sqWwVkORFsrong7VIEsni8jJ3URCv6Q-VI
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👇 An insidious situation emerging at NIH!
add a skeleton here at some point
4 months ago
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Check out this fantastic plenary paper from
@katanlab.bsky.social
and colleagues in
@bloodjournal.bsky.social
:
tinyurl.com/mr9nzj3k
Michael Poeschla and I had the privilege to write a commentary, "Getting to the root of high-risk leukemias"
tinyurl.com/htf3e8d2
4 months ago
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Fascinating!!! Always more to learn about the globin loci! 🩸🧬
genomebiology.biomedcentral.com/articles/10....
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DNA G-quadruplex structures act as functional elements in α- and β-globin enhancers - Genome Biology
Background Enhancer elements interact with target genes at a distance to modulate their expression, but the molecular details of enhancer–promoter interaction are incompletely understood. G-quadruplex...
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-025-03627-1
4 months ago
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www.nytimes.com/interactive/...
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Here are the nearly 2,500 medical research grants canceled or delayed by Trump
Some cuts have been starkly visible, but the country’s medical grant-making machinery has also radically transformed outside the public eye.
https://www.nytimes.com/interactive/2025/06/04/health/trump-cuts-nih-grants-research.html
4 months ago
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Delighted to have our work on Polygenic Modifiers of
#TelomereBiologyDisorders
, led by Michael Poeschla,
@sashagusevposts.bsky.social
,
@mitchiela.bsky.social
,
@sharonsavage.bsky.social
,
@tummalalab.bsky.social
, + co, published in
@jclinical-invest.bsky.social
today:
www.jci.org/articles/vie...
4 months ago
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