Kiran Musunuru

Neanderthal males and human females had babies together, ancient DNA reveals When ancient humans mated, dad was a Neanderthal, mom was Homo sapiens.

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 recent 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

Competition in human genetic technologies: The current US legal landscape Here, we offer a perspective on the US legal landscape regarding the promotion of competition, with specific attention given to the human genetics and genomics industry. We highlight current policy on...

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

The black of space. Some bright, six-pointed bluey features are Milky Way stars. Everything else is a separate galaxy.

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.

FDA’s new ‘plausible mechanism pathway’ for personalized gene editing raises concerns A new FDA pathway meant to enable one-time gene-editing cures could, ethicists warn, become a Pandora's box.

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.

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

Global Scientific Consortium Reaffirms Position on Human Heritable… Recent news reports highlighting commercial efforts to normalize heritable human genome editing (HHGE) underscore the urgent need for sustained vigilance,…

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

Generating long deletions across the genome with pooled paired prime editing screens Engineered deletions are a powerful probe for studying genome architecture, function, and regulation. Yet, the lack of effective methods to create them in large numbers and at multi-kilobase scale has...

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...

Personalized gene editing helped one baby: can it be rolled out widely? In a world first, a bespoke gene-editing therapy benefitted one child. Now reseachers plan to launch a clinical trial of the approach.

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!

How to create personalized gene editing platforms: Next steps toward interventional genetics How do we go from a single individual receiving a personalized gene-editing therapy to a future of “interventional genetics” in which such therapies are the standard of care? First and foremost: regul...

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

Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21 - Nature Studies using human pluripotent stem cells and a mouse model of Down syndrome identify HMGN1 as a key contributor to congenital heart defects in individuals with Down syndrome.

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 embryo models of Jacob Hanna Scientists are creating the beginnings of bodies without sperm or eggs. How far should they be allowed to go?

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? How to better manage expectations around gene editing drugs for families of children with rare diseases.

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

Yes, more on this soon!