📢 Structural variants disrupting PITX2 from its enhancers linked to Axenfeld-Rieger Syndrome highlight the importance of non-coding structural variants in genetic diagnoses. 🧬 🔗 Read more: www.nature.com/articles/s41...

"I would like to emphasize the importance of question-driven science...young scientists might enjoy science more if they are thinking about questions rather than just collecting data" journals.biologists.com/jcs/article/...

🪼 Your tax dollars paid a scientist to squeeze jellyfish through cheesecloth. Osamu Shimomura processed tens of thousands on an NSF grant to understand why they glow. He found a protein that glowed green under UV light. Called it "green protein." Nobody cared. For decades.

Our federal science funding agencies were designed to support science that is vetted and driven by scientists with a Congressional mandate to be for the public good. The OMB's proposed changes would replace that system with one driven by partisan cronies and special interests. 15/n

An especially disruptive change would be the elimination of publication costs. The move towards open access publishing--based on the idea that if the public pays for it, they should be able to read it--has resulted in skyrocketing up-front costs of $4000-$6000 or more per paper. 12/n

The new rules would also require that the budgeting for conferences is only allowable if participation is approved by the agency and included in the award when it is made. In other words, you have to specify the conferences you want to attend when you apply, and those must be pre-approved. 10/n

Summary of Key Changes in OMB’s Proposed Federal Financial Assistance Rule. Russell Vought is going destroy American Science. elizabethginexi.substack.com/p/summary-of...

Every scientist should know: • antibodies (Abs) can bind the wrong target • non-validated Abs can lead to false conclusions • Abs should be validated before use YCharOS tests commercial Abs in KO cell lines ycharos.com Only Good Antibodies makes the data easy to browse onlygoodantibodies.co.uk

@hggadvances.bsky.social sat with @adel-aide.bsky.social, in the latest "Inside HGG Advances" to discuss her paper, “Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.“➡️ https://bit.ly/4wVlx0o #ASHG

(2) The plan is, indeed, to have an RFI to collect input. THIS IS A HUGE SHIFT IN NIH PRACTICES. FOLKS NEED TO THINK ABOUT THIS AND PREPARE TO WEIGH IN. 3/3

Applications are now open for the @geneticssociety.bsky.social Human Genetics Scholar Initiative (HGSI)! www.ashg.org/membership/a... HGSI supports trainees and early-career researchers through structured mentorship, leadership and career development programming...

I'm excited to finally share my postdoc work in the Zoghbi lab: "A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism." www.biorxiv.org/content/10.6...

🎊🏆 Announcing the 2026 DNA Day Essay Contest winners! Students from around the world wowed us with thoughtful, science-savvy essays on gene therapies. Thank you to all who wrote an essay, mentored a student, or volunteered their time to review essays. https://bit.ly/4jJxeAM

Science advocacy in action! 🧬 ASHG Board members met w/ lawmakers on Capitol Hill to push for $51.303B NIH base budget + key policies impacting research. With proposed cuts to NIH/NSF/ARPA-H, you can add your voice from your state: complete the ASHG Action Alert 👉 https://bit.ly/4u9YrBe

On the Hill with @geneticssociety.bsky.social advocating for NIH funding. 🧬 Genetics research drives better diagnoses & treatments, trains the next generation of scientists, and keeps the U.S. competitive in biomedical innovation. Thanks to the lawmakers who engaged with us today! 🇺🇸

Today is a good day for an ASHG Hill Day 🧬🏛️🇺🇸 We had great conversations with members of Congress about the importance of NIH funding for: 1) enabling discoveries that lead to better diagnoses and treatments 2) training the next gen of scientists 3) keeping the US competitive

Important read as the NIH moves to invest much more in reproducibility

We are so excited to see our work out in @nature.com! We present a multi-omic single-cell atlas of 12 organs in human fetal development, explore the enhancer landscape, use deep learning to infer rules of transcription factor activity, and interpret non-coding variants in complex traits: #GeneReg 🧬🖥️

Required reading for any student of genetics. A lucid and thoughtful piece on term that is far from unambiguous. I encourage sharing widely.

Your science matters—and it belongs in the global conversation. Abstract submissions for the ASHG Annual Meeting are now open. Share your discoveries, connect across borders, and help shape the future of human genetics and genomics. Submit by May 18. https://bit.ly/3PKPMpZ #ASHG26

The Orange Cat Brain Atlas is here. 🧠🐈 Today, we published the first comprehensive cellular map of the orange cat brain. The new atlas reveals a single, specialized neuron responsible for behaviors like staring at walls, knocking objects off tables, and the 3am "zoomies."

New Zoghbi lab MECP2 paper out 🎉: Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome | Science Translational Medicine www.science.org/doi/10.1126/...

ASHG 2027 Board of Directors nominations are open! 5 roles available: one President and four Director seats—2 dedicated for trainee & early career members. Active members passionate about ASHG, apply or nominate a colleague by March 20: https://bit.ly/4qBJndg #ASHG #HumanGenetics

[looking through a microscope, crying] i am begging you to do something sensible one time [the infinite variety of forms most beautiful] lol no

Today in @nature.com, we describe how discarded reads in biobank-scale WGS can help resolve the genetic predictors and consequences of Epstein-Barr Virus (EBV) infection. Wonderful working with @ryandhindsa.bsky.social @sherrynyeo.bsky.social @erinmayc.bsky.social www.nature.com/articles/s41...

Call on your house representatives to support a FY2026 budget bill that would preserve funding for NIH at the Senate Appropriations Committee approved level of $48.7B and adopt Senate language prohibiting a cap on indirect costs and limiting multi-year funded grants to levels consistent with FY2024

Ready for your next step to your future in genomics? Applications for the ASHG-NHGRI Post-Baccalaureate Genomics Analyst Fellowship are OPEN—submissions close Feb 1! Gain in-depth experience, learn from field leaders, and influence progress in #humangenetics research. Apply now: bit.ly/44WDkbq #ASHG

Our paper on the newest version of the Registry of candidate cis-Regulatory Elements (cCREs) is out 🧬 Huge thanks to the many collaborators, experimentalists, analysts and software developers who made this work possible — truly a team effort! A "meme-torial" of the science is coming soon 👀

On the last day of #ASHG25, attending a telomere session entitled "end results" seems fitting. It's been a great meeting talking with vibrant young geneticists, and on this note, I'm hiring a postdoc! thejacksonlaboratory.wd503.myworkdayjobs.com/External_JAX...

This is so good to see - a young baby has had a life changing treatable disease diagnosed early due to broad based (healthy baby) genome sequencing. He has a rare eye cancer gene, and has immediately been put into the effective treatment pathway.

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

Excited to kick off #ASHG25 today! Stick around for my Saturday morning platform talk, "Dissecting MECP2 cis-regulatory architecture with massively parallel reporter assays to assess its contribution to male-biased autism"

The Department of Human Genetics at the University of Michigan is looking for a new faculty colleague at the rank of Assistant Professor. Please share! careers.umich.edu/job_detail/2...

📣New from @sequenceman.bsky.social & co 📄Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties 👉https://tinyurl.com/mwc5vfb4

We are excited to announce the release of the MaveDB Experiment Heatmaps and Alignment track for hg38. Each heatmap shows the results of many small substitutions that were tested within a gene to examine their functional consequences. Learn more at: http://bit.ly/4lCIlLq

If someone you know buys into claims about "genetic optimization" of embryos using polygenic scores of cognition, just send them our 2024 paper on Beethoven & musicality. We wrote it to help communicate limits of individual-level genetic predictions & complexity of links between DNA & behaviour. 🧪👇

Leveraging deep mutational scanning and a DNA repair reporter assay, @ajhgnews.bsky.social latest article from @jacobkitzman.bsky.social & co provides a resource to resolve MUTYH VUSs: www.cell.com/ajhg/abstrac... #ASHG #HumanGenetics

In another milestone for human genetics, the world's largest set of whole-genome DNA sequences now encompasses data from nearly half a million people, described in this new @nature.com paper from @ukbiobank.bsky.social: 🧪👇

Check out our latest work co-led by @dcsoto.bsky.social and @jmuribescr.bsky.social identifying hundreds of human duplicated gene families using the new T2T-CHM13 assembly, with a focus on those potentially contributing to brain evolution 🧪: authors.elsevier.com/a/1lTQtL7PXu...

I’ve really enjoyed the mentorship and community provided by this program! Feel free to contact me if you have any questions 🧬🧪

NEW: In an unprecedented move, the NIH will soon disinvite dozens of scientists about to take positions on advisory councils that make final decisions on grant funding. NIH staff were told to select others aligned with the Trump administration and told to expect placements by political appointees.

In vivo mapping of mutagenesis sensitivity of human enhancers www.nature.com/articles/s41...

If you weren't angry enough already, here are the rates of non-competitive renewals through May. 4008 Non-competitive renewals were due to be funded in May. The total funded was 99! Some is due to terminations, but most is due to slow grant making due to DOGE review and other impediments. 1/2

We're spending today polishing #ASHG25 abstracts - are you? Friendly reminder that abstracts are due at 5PM Eastern on MONDAY! 🗓️ ⏰ Showcase your science, network with @geneticssociety.bsky.social 🧬 friends and colleagues 🧬 in Boston this fall. Can't wait to see you there!

The whole point of funding research is that it may benefit everyone and as the population ages, it will likely save someone close to you (ahem Russ Vought!). But you cannot afford to fund the research yourself unless you’re an oligarch. If there is no social compact for this what even is the point?

Here: Baby KJ at home with his mom Nicole. This really happened, folks. Hundreds of people from 8 organizations (led by Rebecca Ahrens-nicklas and Kiran Musunuru) came together to make a bespoke gene editor for this kiddo. He was once in the 7th percentile of body weight. Look at him now! ❤️

There's only ~1 week left for abstract submission for #ASHG25! Get your best stories submitted so we have more fun planning the program. Looking forward to seeing a ton of you genetics researchers in Boston this fall.