@imartincorena Congrats! Great to see in final form. And what an issue- shared with @VamsiMootha with a fantastic somatic mosaicism story, tracking clones using mitochondrial DNA variants, and the inimitable @stephxie with human HSCs that exhibit memory of inflammatory exposure.
Amazing paper showing somatic mutations and massive clonal selection for lymphocytes that drive autoimmune disease.
Autoimmune diseases are varied and individually relatively uncommon but as a group highly prevalent. These cause lots of morbidity to very many people, with huge personal, societal, and economic impact. If these findings are extended to other autoimmune conditions, they will have huge implications for treatment.
Lots in this paper - somatic evolution, new tech, old theories, mutations in your favorite genes... The thread is a great TL;DR for the paper.
Go deep and read the cited 2007 Goodnow paper (post#6) - amazingly detailed and prescient- from ~20 years ago!
Excited to share our latest work. Applying advanced single-molecule and single-cell DNA sequencing methods, we uncover an extraordinary landscape of somatic mutations in immune checkpoint genes in autoimmune lymphocytes. [1/n] https://t.co/8kQZ0NWl7X
Data on factors impacting time-to-acceptance could be crowd-sourced.
Major factors:
- time before first editor desk decision (varies a lot by editor and journal)
- review time (huge variation; also heavily influenced by the editors)
- editor decision time after reviews come in (can be longer than one would think)
– revision time (authors chasing very time-consuming experiments for the win; heavily influenced by (lack of) editor guidance, but also topic, model system...)
- second round (all same variables)
- possible appeal time (appeals are high at top journals and take even more time and can add to total time)
Journals track all this data. Authors should have it too.
Decent crowd-sourced data could be in ~real-time, and would help authors make informed decisions. I think many ppl would contribute data from their experience.
❓A one-time, durable, and even reversible way to prevent thrombosis? In this preprint, led by @lrbzldz, we show that epigenome editing of 🩸 #StemCells can durably reprogram platelet function: https://t.co/bioSZhRFuG
First (to my knowledge) manuscript describing a correlation between number of infections and incidence of clonal hematopoiesis (CHIP). Really important from the perspective of highlighting a possible modifiable driver of CHIP during aging. @ISEHSociety https://t.co/DRtk6ScrJt
An interesting question not addressed is the lifestyle differences of people with inactivating myostatin variants. You might guess that people with more muscle will excel in activities where those traits are valuable (e.g., athletics or certain jobs). Those activities might be self-reinforcing, further enhancing muscle growth and amplifying the apparent genetic effect over time. Lots more to learn, but a great investigation that will move the field forward. #aging #muscle #health
Remarkable new study showing that many individuals with genetic variants that disrupt the function of myostatin (a protein that normally inhibits muscle growth) have ⬆️muscle mass,⬇️ body fat, and ⬆️strength.
Increased muscle mass is clinically desirable for #healthyaging and for countering muscle loss in various contexts (including use of #GLP1 agonists). Below, MRI images of a subject with above-average muscle mass (left) and average muscle mass (right) from the study. Congrats @davidjglassMD and colleagues! Link ⬇️
It’s also a testament to the incredible societal value of these huge biobanks, the careful genotyping, thoughtful phenotyping, and mechanisms to make these available for analysis. THANK YOU to everyone who participates as a subject, to all the researchers who have worked so hard on these incredibly valuable resources, and to the funding bodies with foresight to invest in these. UKB and similar are truly transformative IMO.
Excited to announce a paper out today in @natgenet.nature.com identifying an approach to mitigate the risk of therapy-related myeloid malignancies in patients with cancer. Collaboration with @KellyLBolton@WashU and led by @IrenaeusChan & @PuZhang09980432
https://t.co/PkB6FViUCk