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Thank you @NEJM for bringing rare disease to the spotlight. Hopefully this will inspire more research into lncRNAs because surely there are more stories out there like CHASERR waiting to be discovered.
Deletions in a gene (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) that encodes a long noncoding RNA cause severe developmental delay and an increase in expression of a neighboring gene, 𝘊𝘏𝘋2. Read the Brief Report: nej.md/48gS1WY
CHASERR lncRNA Dad retweeted
For anyone interested in the molecular mechanisms underpinning autism
medrxiv.org/content/medrxiv/…
CHASERR lncRNA Dad retweeted
Experts in gene editing, n=1 medicine development, in vivo delivery, rare diseases, and cell & animal models of genetic disorders have founded the Center for Therapeutic Genetics (CTG), a non-profit effort involving @broadinstitute @BostonChildrens @jacksonlab, as well as others from industry, academia, and patient advocacy organizations, to bring the promise of programmable medicines including base and prime editors to patients suffering from rare genetic diseases. This article from @ginakolata @nytimes frames the compelling need: nytimes.com/2026/07/21/healt…
Official announcement: broadinstitute.org/news/broa…
CHASERR lncRNA Dad retweeted
Could the folding of synthetic gene circuits in 3D shape how genes are expressed? Today @ScienceMagazine we report on the role of gene syntax in shaping feedback between transcriptional activity and genome folding for advanced circuit design🧵 (1/n)
CHASERR lncRNA Dad retweeted
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder: nature.com/articles/s41588-0… – at Philadelphia, PA
CHASERR lncRNA Dad retweeted
Baylor Genetics has enhanced WGS with optical genome mapping, long-read, and RNA sequencing—delivering deeper insights and more answers for complex cases. Now commercially available.
We’ll be at PAGC (PA) & GAGC (GA) this week—stop by to connect: baylorgenetics.com/news/bayl…
CHASERR lncRNA Dad retweeted
A new mechanism for “RNA memory”! 😱
Thrilled to share another crazy paper from the lab (can’t believe we posted 2 in 2 days!), summarizing >10 years of research:
Work on transgenerational inheritance of small RNAs in the powerful model organism C. elegans changed how we think about what’s possible in inheritance and evolution, because it allows the most heretical thing: inheritance of parental responses to the environment! However, it’s still unclear whether RNAs are inherited across generations in other animals, largely because the RNA-dependent RNA polymerases that amplify heritable small RNAs and prevent their dilution in C. elegans are not conserved in mammals.
In this new work, an amazing collaboration with the Rink and Wurtzel labs, we show that planarians establish long-lasting and heritable small RNA–based gene regulatory states despite lacking canonical RNA-dependent RNA polymerases and nuclear RNAi machinery (that are required in C. elegans).
You might say “they are both worms…” BUT planarians are evolutionarily very distant from C. elegans (flatworms vs. roundworms, diverged more than 500 million years ago), making this particularly surprising. These are totally different animals.
We find that ingestion of double-stranded RNA induces sequence-specific silencing that persists for months and survives repeated cycles of whole-body regeneration. Even more strikingly, RNAi can be transferred between animals, echoing James V. McConnell’s controversial “RNA memory” experiments from the 1970s (his lab was targeted by the Unabomber terrorist Ted Kaczynski, who sent McConnell a bomb. This and other controversies ended this line of experiments…)
Mechanistically, we find that the response transitions from a transient systemic dsRNA-triggered phase to a stable, cell-autonomous post-transcriptional “memory phase” maintained by antisense small RNAs. Using a new luminescence reporter (transgenesis is currently impossible in planarians), we show that silencing spreads along the targeted gene and identify a weird type of planarian small RNAs with untemplated polyA tails.
RNAi inheritance without canonical RdRPs establishes planarians as a powerful system for studying RNA-based regulatory inheritance beyond C. elegans and raises the possibility that RNA-mediated inheritance may be more broadly conserved in animals, potentially even in mammals.
Here’s a video of a planarian that is treated by RNAi against β-catenin and develops multiple heads instead of just one. This is one of the phenotypes that is inherited. Another phenotype is “loss of eyes” (which we show is not only inherited across multiple regeneration cycles, but can also be transmitted between animals in transplantation experiments).
Amazing work led by first authors Prakash Cherian and Idit Aviram (co-supervised by Omri and me).
Please read the preprint, the link is in the next tweet, and share!
Happy Thanksgiving. We are thankful for all the researchers pushing forward the science on CHASERR and other rare diseases in a difficult, to say the least, funding environment.
CHASERR lncRNA Dad retweeted
Very pleased to share our latest paper published in Cell: BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell cell.com/cell/fulltext/S0092… @CellPressNews #raredisease #genomics #AI @EPerenthaler, @RuizhiDeng
Here is a thread on our findings:
CHASERR lncRNA Dad retweeted
Thrilled to welcome our newly elected 2026 Board of Directors during #ASHG25!🎉Their leadership will guide us into an exciting year ahead.
Learn more about our new board: ashg.org/uncategorized/ashg-…
#HumanGenetics #ASHG
CHASERR lncRNA Dad retweeted
15 years in the making, we confirmed that mitochondria -the powerhouse of the cell- have an unusual localization in patients who experience psychosis (including schizophrenia and bipolar disorders). You’ll never guess what kind of patient cells we used to make this discovery...🧵
CHASERR lncRNA Dad retweeted
You know what @Apple announcement I would get excited about? Contacts. All the random software updates are nice, but can you please just make Contacts work correctly? #userexperience
CHASERR lncRNA Dad retweeted
🚨Now out in Molecular Therapy! With @Fran_Vacante , we describe MYRACL, a novel candidate lncRNA driving human oligodendroglia differentiation & myelination. Grateful to our amazing co-authors & mentors Anna Williams & Andrew Baker!!!
Read more👇
sciencedirect.com/science/ar…
CHASERR lncRNA Dad retweeted
Congratulations to Prof. @IgorUlitsky of the Department of Immunology and Regenerative Biology, upon being appointed as the new Dean of the Faculty of Biology. Prof. Ulitsky will assume his role on December 1, 2025
Rare disease peeps. This is worth a read if your disease might be amenable to treatment via alternative splicing. Very interesting approach.
A small-molecule drug proves its mettle in the treatment of spinal muscular atrophy, a disease amenable to intervention at the pre-mRNA level.
Learn more in the editorial “Presymptomatic Treatment of a Genetic Disease with a Small-Molecule Drug” by Charlotte J. Sumner, MD, from @HopkinsMedicine: nej.md/46ORJrO
CHASERR lncRNA Dad retweeted
AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet Syndrome biorxiv.org/content/10.1101/…
CHASERR lncRNA Dad retweeted
Congratulations to Dr. @MoezDawood on his successful defense! Well done.


















!["I know what my calling in life is. I know it is to do the kinds of things I was able to do for him [Bertrand], for as many as I can. That's really how I think about my day job at this point, is living out his legacy, trying to scale up precision medicine for as many others as I possibly can."](https://pbs.twimg.com/media/G3VHRnfWkAAvCyN.jpg?name=small&format=webp)












