Next-gen CRISPR tools improve editing accuracy in embryos, but also stoke ethical concerns www.statnews.com/2026/06/25/c... via @statnews.com

Researchers at @bcmgenetics.bsky.social, with the Undiagnosed Diseases Network and international collaborators, identified a new genetic disorder tied to TMEM63B variants causing severe early-onset lung disease. Read more about the discovery published in AJHG: www.bcm.edu/news/novel-d...

1/n What fraction of the human genome is essential for cells? Excited to share our preprint that explores this question by combining an unusual CRISPR system, phage promoters, and thousands of deletion launchpads. @sudpinglay.bsky.social @jshendure.bsky.social www.biorxiv.org/content/10.6...

What does it really mean for a trait to be “polygenic”? @lukeoconnor.bsky.social & Guy Sella, authors of @ajhgnews.bsky.social's latest article, define polygenicity from first principles, introducing clear, quantitative measures: https://bit.ly/49bCsld #ASHG #HumanGenetics #GeneticsDiscoveries

This is Mars. Photographed by NASA's Psyche spacecraft on Thursday, 14 May from a distance of 443,000 km. The image is a three-colour composite of the IR 2, 3, and 4 filters (842 nm, 943 nm, and 1009 nm, respectively). Credit: NASA/JPL-Caltech/ASU/Paul Byrne

'Aqua Chroma' A meditative slow gaze at Earth's atmosphere, revealing the hidden depths of activity in the water-filled skies of planet Earth. 4K HDR 36m20s youtu.be/F2jsuJPU0Lo

Our May issue is online! All the best human genetics & genomics in one place--check it out! www.cell.com/ajhg/current

New Gene Therapy Enables Children With a Rare Form of Deafness to Hear www.nytimes.com/2026/04/23/s...

The authors take the mic. In this upcoming May 13 Journal Club Webinar, @ajhgnews.bsky.social’s paper authors Sara J Cromer, MD, MS, and David Conti, PhD, unpack what it takes to integrate PRS and SDoH across genetically and socially varied populations—LIVE: https://bit.ly/4chGKtr #ASHG

We Are on the Cusp of a Revolution in Rare Disease Treatment www.nytimes.com/2026/04/09/o...

Our April issue is online! Catch up with the latest in human #genetics & #genomics www.cell.com/ajhg/current

In this new publication, SCGE researchers report initial proof-of-concept studies supporting a customizable prime editing platform geared to the treatment of 7 urea cycle disorders (UCDs) and other liver-centered disorders... (1/4)

👇The FDA comment period is OPEN; review the documents & share your thoughts

Implications of the FDA’s new plausible mechanism framework for the development of a personalized in vivo prime editing platform: The American Journal of Human Genetics www.cell.com/ajhg/fulltex...

Alice Popejoy, PhD, shares how her work in public health genomics shapes her role as an @ajhgnews.bsky.social Editorial Board member—especially around methodological rigor & responsible use of population descriptors. Ready to publish your work? Submit today: https://bit.ly/4c3aUjI #ASHG

The authors of the @ajhgnews.bsky.social latest article explore the opportunities and challenges of harmonizing data across cohorts & biobanks & outline key ethical considerations for conducting or reporting this work: https://bit.ly/4dbA3JZ #ASHG @prsmethods.bsky.social

A recent @washingtonpost.com article features a new study led by ASHG Past President @sarahtishkoff.bsky.social, PhD. Read about her team’s findings on Neanderthal and modern human interbreeding and how social dynamics may have influenced these pairings. @carolynyjohnson.bsky.social

Our March issue is online! Revisit #ASHG25 with the Presidential and awards addresses & then catch up with the latest human genetics & genomics research! www.cell.com/ajhg/current

Today is #RareDiseaseDay! We join the movement to elevate visibility & patient voices for rare conditions. Identifying the genes & variants behind a rare disease is key to understanding its molecular basis. Learn more in @ajhgnews.bsky.social#RareDiseaseDayrecent article: https://bit.ly/3ME4ygM #ASHG

To gain insight into vascular disease processes attributable to alternative splicing, the authors of @ajhgnews.bsky.social's latest article modeled inflammation in endothelial cell lines, revealing that alternative promoters are key regulators of transcript variety: https://bit.ly/4rwhvbD #ASHG

Research from @ajhgnews.bsky.social's latest article reports false-positive newborn screening tests for SMA in two healthy children. Rapid functional testing of rare SMN1 variants provided clarity to families & saved millions in unnecessary treatments: https://bit.ly/4kHtSPD #ASHG #HumanGenetics

Many genes suggested to contribute to congenital heart disease remain unvalidated. The authors of the latest @hggadvances.bsky.social article use CRISPR screening in Xenopus to link FLNB to CHD, heterotaxy & ciliopathies: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00020-5 #ASHG

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

Our February issue is online NOW! Check it out to catch up on the latest human #genetics & #genomics research www.cell.com/ajhg/current

The latest @ajhgnews.bsky.social article from @dnalawyer.bsky.social & colleagues offers a perspective on the U.S. legal landscape regarding the promotion of competition, with specific attention given to the human genetics and genomics industry: bit.ly/3Z1b18i #ASHG #HumanGenetics

Here's another deep field image from JWST. There's something pretty amazing hidden within it, which I'll talk about next. But open up this image and lose yourself in this almost impossibly vast view of our Universe. The six-pointed features are stars in the Milky Way. Everything else is a galaxy.

Thanks to @jasonmast.bsky.social for highlighting our analysis of FDA's new plausible mechanism pathway in @statnews.com. Key pts: - Plausible mech is a great idea for n of 1/few - FDA needs to stop advancing policy via journal article - Impt open Qs on scope www.statnews.com/2026/01/26/f...

📢 @kiranmusunuru.bsky.social begins his term as @ajhgnews.bsky.social Editor-in-Chief with an inspiring editorial: sharing his excitement for the future of interventional genetics and reaffirming the journal's commitment to publish the most exciting #humangenetics research: bit.ly/45dEZcJ #ASHG

Start 2026 off right-register today for next week's journal club! Kyle Retterer will discuss scalable methods for genomic-first ascertainment of rare disorders—based on research published in AJHG! Join us on January 14 at noon Eastern: bit.ly/4oY7qlO #ASHG

Our new issue includes a welcome Editorial from new EiC @kiranmusunuru.bsky.social www.cell.com/ajhg/fulltex...

It's here--our first issue of 2026 & it's full of exciting human genetics & genomics research! www.cell.com/ajhg/current

We did a deep dive into aortic stenosis genetics, and took first steps to understand the genetics behind normal human variation in flow across the aortic valve.

🎉 Join us in thanking outgoing Editor-in-Chief Bruce Korf for his years of leadership and commitment to advancing human genetics & genomics! 👏👏👏 Read his farewell Editorial, Transitions in interesting times: bit.ly/44upBZ9

She Was Born Without an Immune System. Gene Therapy Saved Her Life. www.nytimes.com/2025/11/27/w...

🚨Big News!🚨 Our keynote lineup for the ASHG Genetic Diagnosis & Rare Disease Virtual Symposium is here! Dec 2: @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social Dec. 3: Helene Cederroth & Eric Klee You won't want to miss their insights shaping rare disease genetics: bit.ly/3WVd6l2 #ASHG

Recent news reports highlighting commercial efforts to normalize heritable human genome editing (HHGE) underscore the urgent need for sustained vigilance, ethical clarity, and enforceable global governance. Read more: https://bit.ly/4r8iIGt

New 🧬✂️ pre-print! We show that paired prime editing can efficiently generate large deletions — even >1 Mb — with high precision and at scale. We use this to perform the first pooled prime deletion screen across the human genome. 🔗 biorxiv.org/content/10.1... A short thread (by Juliane Weller)👇

The SCGE platform now has the first sets of researchers' regulatory documents available to the public. These documents are from regulatory interactions that SCGE researchers have had with the U.S. Food and Drug Administration (FDA). Access these documents at: scge.mcw.edu/platform/pub...

Read more about today's paper (tinyurl.com/23c5vzd9) from @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social that discusses regulatory innovation in the pathway toward interventional genetics!

Can personalized treatment become the standard of care? Just published in @ajhgnews.bsky.social, @kiranmusunuru.bsky.social, MD, PhD, and @ahrensnicklas.bsky.social, MD, PhD, explore their vision for the future of interventional genetics: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics

Super cool and important new work in gene dysregulation by HMGN1 as a mechanism for heart defects #CHD in Down Syndrome. From my @gladstoneinst.bsky.social colleagues led by @sanjeevranade.bsky.social www.nature.com/articles/s41...

The astonishing science of synthetic embryology and our profile of it's most ambitious praticioner, Jacob Hanna www.technologyreview.com/2025/10/21/1...

“We must keep going with this ability to sample genomes, not just in the convenient places we started out with.” - former Director of the National Institutes of Health, Francis Collins, MD, PhD, during his recognition speech at #ASHG25

🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬 👉 www.nature.com/articles/s41... 1,000 babies WGS using existing cards 600+ conditions 13 day TAT 16 diagnoses (vs 1 in std NBS) High clinical impact High parental acceptability

Parents of children with rare diseases ask: How long until our CRISPR miracle? www.statnews.com/2025/10/09/c... via @statnews.com

These Patients Got the Cure. Then It Went Away. Gene therapies for rare diseases are frequently developed then discarded by drug companies because they can’t afford to produce the treatment for more patients. www.nytimes.com/2025/09/22/h...

Optimization of a bespoke base editor to treat a severe pediatric vascular disease! 🫀🧬 Our manuscript describes: 1️⃣ Engineering a target-specific BE🧬 2⃣ A *must avoid* bystander edit that occurs with WT SpCas9 BEs! 🙅‍♂️ 3⃣ Extension of lifespan after in vivo editing! 🐁✅ www.nature.com/articles/s41...

🚨🚨🚨 Finally out!!, Our study describing the development and deployment of a bespoke CRISPR–Cas9 base editor for palliation of a severe monogenic vasculopathy by genome editing is published today in Nature Biomedical Engineering 🧵 to follow Here is a free link: rdcu.be/eFAEz

NASA Rover Findings ‘Could be the Clearest Sign of Life’ on Mars www.nytimes.com/2025/09/10/s...

Are A.I. Tools Making Doctors Worse at Their Jobs? www.nytimes.com/2025/08/28/w...