Strong opinions. In acctg, there's a rule called the “matching principle” - match revenue & expenses using GAAP estimates. Under NIH rules, you can’t allocate expenses across multiple projects. Only direct count. Disconnected from reality. Bad accounting = distorted narrative

Another lncRNA causing an epileptic encephalopathy with LGS. Amazing work Hsiao-Tuan Chao (赵孝端), MD PhD

On Rare Disease Day, we celebrate all those impacted with rare diseases like my Emma. We also celebrate those struggling to find a diagnosis. I dream of a day where I don’t have to watch my child suffer such immense pain and challenges. #PequenaPeroValiente.

Getting so close. Happening this week. It will probably break X. Ah ah ah!

🚨 Preprint alert 🚨 We have developed an entirely new mechanism of action for ASO gene knockdown -> lysosomal trafficking 🧬! Works with non-DNA ASOs (unlike RNase H mech) and higher activity than corresponding gapmers! Led by Disha Kashyap UCL Chemistry Oxford Chemistry

This needs to be retweeted 5,000 ^5,000 times. Ah ah ah!

Excited to share our upgraded #CHD2 mouse model! 🐭🧠 It better mimics the disorder, revealing key symptoms like motor deficits, autistic features & altered brain function⚡️ An amazing collaboration with Igor Ulitsky 💔, supported by Coalition to Cure CHD2. 🔗 Read more: biorxiv.org/content/10.110…

So proud to share our last story about a #methylated #lncRNA involved in #inflamation, this time in #brain. Many thanks to all our collaborators for their invaluable contribution and to the first author AneOlaGa that once again did an awesome job! cell.com/molecular-ther…

New Nature Genetics study identifies RNU2-2 mutations as a cause of a severe neurodevelopmental disorder with #epilepsy. The same team previously linked RNU4-2 to NDDs, expanding the role of non-coding RNA genes in brain development: mountsinai.org/about/newsroom… #NDD #genetics

New international collaborative work incl. our discovery team describing mutations in the noncoding gene RNU2-2 as a cause of a neurodevelopmental disorder #ErasmusMC Mount Sinai Genetics Nature Genetics #WGS #epilepsy #NDD #ReNUSyndromeUnited #morbidgene nature.com/articles/s4158…

Thank you Amanda Keener, nature & Seegene USA for the great article about the powers of whole genome sequencing and our daughter's diagnostic journey. UDN Broad Institute Vijay Ganesh Anne O'Donnell-Luria Gemma Carvill, PhD Igor Ulitsky 💔 nature.com/articles/d4158…

Scientists developed a patient-derived organoid model for UBA5-associated encephalopathy, revealing stunted GABAergic interneuron growth as a cause of seizures. Boosting activity of the hypomorphic UBA5 gene shows promise as a potential therapy.

I discuss the urgent crisis from the loss of federal support of science in the US and recent clinical gene editing breakthroughs with Walter Isaacson & Christiane Amanpour on Amanpour and Company, airing on PBS tonight at 11 pm ET, and on CNN International earlier today. Pls share! youtube.com/watch?v=8YhJM6…

Stop the doom scrolling! A new 🗞️ from my lab, describing one of our flagship projects of many years we are super excited to share: "Inducible formation of fusion transcripts upregulates haploinsufficient CHD2 gene expression". A 🧵biorxiv.org/content/early/…

.Secretary Kennedy - thank you so much for your broad support for gene editing and gene therapies as well as recognizing the importance of Baby KJ’s story and the potential that CRISPR base editing therapies hold for patients with severe genetic diseases. I’m thrilled you have publicly

My response to Secretary Kennedy's statements about me on Fox News today. It's time to set the record straight.

More than 2700 3′UTRs are highly conserved. These 3′UTRs are essential components in mRNA templates, as their deletion decreases protein activity without changing protein abundance. Highly conserved 3′UTRs help the folding of proteins with long IDRs. biorxiv.org/content/10.110…

Congratulations to Dr. Moez Dawood on his successful defense! Well done.

AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet Syndrome biorxiv.org/content/10.110…

Rare disease peeps. This is worth a read if your disease might be amenable to treatment via alternative splicing. Very interesting approach.