For obvious reasons, I've become fascinated with retrotransposons. So we ( @alexwhiteley.bsky.social and I) wrote an article now out in Neuron @cellpress.bsky.social on how we think retrotransposons influence brain function and health! kwnsfk27.r.eu-west-1.awstrack.me/L0/https:%2F...

A promising genetic treatment tailor-made for a baby born with a rare disorder For the first time, doctors have created a customized treatment using the revolutionary gene-editing technique known as CRISPR to treat a baby with a rare, life-threatening genetic disorder.

Look at this gorgeous chonk of a baby. Look at his lil face. We are treating his life-threatening ultra-rare genetic condition with super cool science. With a gene editing tool that we stole from bacteria! Just in case you also needed a reminder that humanity can still do some pretty awesome stuff.

Massively parallel jumping assay decodes Alu retrotransposition activity - Nature Communications Here, the authors develop a high-throughput assay to measure the jumping potential of thousands of transposons in parallel.

Massively parallel jumping assay (MPJA) enables to test the jumping potential of thousands of transposons. Analysis of >160,000 Alu haplotypes identified transposition-asssociated domains. Amazing work by Navneet Matharu, Jingjing Zhao, Martin Kircher and many others.
www.nature.com/articles/s41...

Gag proteins encoded by endogenous retroviruses are required for zebrafish development | PNAS Transposable elements (TEs) make up the bulk of eukaryotic genomes and examples abound of TE-derived sequences repurposed for organismal function. ...

💥🥳 At long last, our latest paper is out!

Gag proteins of endogenous retroviruses are required for zebrafish development

www.pnas.org/doi/10.1073/...

Led heroically by Sylvia Chang & @jonowells.bsky.social

A study which has changed the way I think of #transposons! No less! 🧵 1/n

The retrotransposon-derived capsid genes PNMA1 and PNMA4 maintain reproductive capacity Nature Aging - PNMA-family genes are gag-like elements of ancient retrotransposon origin whose roles in mammalian genomes is incompletely understood. Wood et al. found that two...

Online now! The Berchowitz lab found that two retrotransposon-derived proteins, PNMA1 and PNMA4, support mammalian fertility in both sexes and become increasingly important during aging. (rdcu.be/eiT3z)
doi.org/10.1038/s435...

Reactivation of retrotransposable elements is associated with environmental stress and ageing Nature Reviews Genetics, Published online: 02 April 2025; doi:10.1038/s41576-025-00829-yIn this Review, Della Valle et al. discuss the role of retrotransposable elements (RTEs) in the onset and progression of ageing and ageing-related disease, including evidence that environmental stressors act through RTEs to shift the trajectory towards unhealthy ageing.

FYI: New online! Reactivation of retrotransposable elements is associated with environmental stress and ageing

STITCHR enables scarless, CRISPR-guided integration using retrotransposons—elegant in vitro, Cas9-dependent, and promising for non-dividing cells.

But:
– Needs fusion proteins 🧬
– Delivery not yet in vivo 🚫
– Still early for therapeutic use ⏳

Cool tech, but not plug-and-play just yet.

Traffic Jam activates the Flamenco piRNA cluster locus and the Piwi pathway to ensure transposon silencing and Drosophila fertility Rivera et al. discover Drosophila Flamenco piRNA cluster enhancers bound and activated by the Traffic Jam transcription factor. Traffic Jam also binds many follicle cell genes including activating mul...

Why NIH/NIGMS funding of basic research matters with our latest work now out in @cp-cellreports.bsky.social sky.social. We solved a >30-year-old mystery of what transcription factor drives the Flamenco piRNA cluster required for female Drosophila fertility. /1
www.cell.com/cell-reports...

Human-specific transposable elements shaped the evolution of craniofacial development through regulation of neural crest migration www.biorxiv.org/content/10.1101/2025.04....

Drosophila follicle showing retrotransposons (pink & yellow) expressed in somatic cells infecting the oocyte

1/ Transposable elements are often called "jumping genes" because they mobilize within genomes. 🧬
But did you know they can also jump 𝘣𝘦𝘵𝘸𝘦𝘦𝘯 cells? 🤯
Our new study reveals how retrotransposons invade the germline directly from somatic cells.
www.biorxiv.org/content/10.1...
A short thread 🧵👇

THIS IS INCREDIBLE! Cohen Children’s Medical Center has confirmed that it has successfully ELIMINATED sickle cell disease from Sebastien Beauzile, using the groundbreaking genetic treatment Lyfgenia. He has made HISTORY by becoming the FIRST in New York to be CURED of sickle cell anemia! 🧪🧵⬇️

I am thrilled to share our story online at @cellpress.bsky.social . Big thanks to all authors: Zhiping, Bill, @lubanlab.bsky.social, Keith & bluesky-less!

authors.elsevier.com/c/1kjdaL7PXu...

How to tame a genome invader? It takes wild koalas 🐨🐨 to learn it.
#Retrovirus #koala #piRNA

More below 👇

Happy to share our manuscript on the in situ visualization of the copia retrotransposon in its final form today published in @cellcellpress.bsky.social www.cell.com/cell/fulltex.... What’s new?

It's been a while because I've felt distracted lately with...*gestures at everything* but, I've gone and updated TE Hub @tehub.bsky.social with new tools, databases and TE lineages tehub.org #TEsky

Review: Diversity and consequences of structural variation in the human genome https://www.nature.com/articles/s41576-024-00808-9 (read free: https://rdcu.be/d64zN 🧬🖥️🧪

Very excited to share our paper on Gene and Transposable Element expression in mammalian preimplantation development, online today! www.cell.com/cell/fulltex...
A short thread to highlight some of our findings 🧵

LINE-1 retrotransposons regulate the exit of human pluripotency and early brain development Long interspersed nuclear element 1 (L1) retrotransposons represent a vast source of divergent genetic information. However, mechanistic analysis of whether and how L1s contribute to human development...

🚨 New pre-print from Team Jakobsson! LINE-1 retrotransposons regulate the exit of human pluripotency and early brain development.

This work was led by @anitaada.bsky.social, @raquelgarza.bsky.social and @jakobssonlab.bsky.social from the Jakobsson Lab.

www.biorxiv.org/content/10.1...

E. coli prepares for starvation by dramatically remodeling its proteome in the first hours after loss of nutrients It is widely believed that due to nutrient limitations in natural environments, bacteria spend most of their life in non-growing states. However, very little is known about how bacteria change their p...

What do bacterial cells do when they run out of nutrients? Although most bacterial studies focus on cells in exponentially growing states, in the wild bacteria likely spend most of their time slowly starving to death. 1/n
www.biorxiv.org/content/10.1...

Massively parallel characterization of transcriptional regulatory elements - Nature Lentivirus-based reporter assays for 680,000 regulatory sequences from three cell lines coupled to machine-learning models lead to insights into the grammar of cis-regulatory elements.

Massively parallel characterization of transcriptional regulatory elements
www.nature.com/articles/s41...
@vagar.bsky.social @jshendure.bsky.social @nadavahituv.bsky.social

RNA control of reverse transcription in a diversity-generating retroelement - Nature This study presents cryogenic electron microscopy structural analysis of a diversity-generating retroelement (DGR) reverse transcription system from Bordetella bacteriophage, with results indicating t...

I ❤️ Diversity-Generating Retroelements! DGRs are abundant in prokaryotes and have been domesticated to create protein diversity via reverse transcription. This new structural study reveals a unique way of priming RT via precise positioning of the RNA around the enzyme.
www.nature.com/articles/s41...

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease Canavan disease (CD) is a neurodegenerative disorder caused by biallelic disease-causing variants in the ASPA gene. Here, we utilized long-read sequencing (LRS) to investigate eight individuals clinic...

Been looking forward to sharing this for a long time! Great collaboration with folks from across the world in which we identified a SVA_E insertion missed by standard clinical testing in individuals with Canavan disease, an early onset neurodegenerative disease.

www.medrxiv.org/content/10.1...

One-page introduction of LexicMap, a sequence alignment tool scalable to millions of prokaryotic genomes.

We're thrilled to introduce LexicMap v0.5.0🎉
It's more accurate and slightly faster!

LexicMap has helped some scientists align genes and plasmids in AllTheBacteria and GenBank, each has > 2 million prokaryotic genomes!

We'll provide an index for ATB on AWS later.

github.com/shenwei356/L...

The NIH funded R&D for 354 of the 356 drugs approved by the FDA from 2010-2019: jamanetwork.com/journals/jam...

In FY2022, NIH research funding generated $96.84 billion in economic activity—2.64 of economic activity for every $1 of funding (www.researchamerica.org/2023-oped-us...)

Impressive!

Regulation of human interferon signaling by transposon exonization Transposable element exonization can yield functional protein isoforms as seen for primate-specific IFNAR2.

I’m excited to share our latest study led by @giuliapasquesi.bsky.social out today in @cellpress.bsky.social , uncovering a new way transposons have been repurposed for human interferon signaling! Read on for a thread on cryptic splice variants, decoy receptors, and viruses (1/N) 👇🧵 #TESky 🧪

FDA approves two sickle cell therapies, including the first CRISPR medicine The therapies offer hope for a long-overlooked genetic illness that can cause excruciating pain and cut decades off people’s lives.

Breaking news: In a major advance, the FDA on Friday approved two gene therapies that target sickle cell disease, one of which is the first commercially available treatment in the United States based on gene editing technology

First *topical* gene therapy…

FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa FDA approves Vyjuvek, a gene therapy for the treatment of wounds in patients 6 months of age and older with dystrophic epidermolysis bullosa with mutation(s) in

First gene therapy approval by FDA of Vyjuvek, a HSV-1 (herpes-simplex virus type 1) vector-based gene therapy, for the treatment of wounds in 6+ mo patients dystrophic epidermolysis bullosa (DEB) with collagen type VII alpha 1 chain (COL7A1) gene mutations.

@emily.bsky.team @pfrazee.com @dholms.xyz @ansh.bsky.team @divy.zone @bnewbold.bsky.team @rozelle.bsky.social @jay.bsky.team @why.bsky.team this is all of us 🙌

Draft of first human pangenome from 47 humans https://www.nature.com/articles/s41586-023-05896-x

After 50+ years, FDA approves first RSV vaccine (Arexvy from GSK) for 60+yo adults www.fda.gov/news-events/press-announ...