CHASERR lncRNA Dad
@chaserrdad
Dad of first 🧒 in the 🌎 with a neurological disease caused by a lncRNA = Chd2 overexpression. Hunting for a cure. Paper in NEJM. ⬇️
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
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
Last year, $9B of the $35B that the National Institutes of Health (NIH) granted for research was used for administrative overhead, what is known as “indirect costs.” Today, NIH lowered the maximum indirect cost rate research institutions can charge the government to 15%, above…
AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet Syndrome biorxiv.org/content/10.110…
Congratulations to Dr. @MoezDawood on his successful defense! Well done.
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…
My response to Secretary Kennedy's statements about me on Fox News today. It's time to set the record straight.
.@SecKennedy - 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…
Thursday morning, I had the privilege of speaking with the Muldoon family, whose 10-month-old son, baby KJ, was discharged Wednesday from @ChildrensPhila. Baby KJ was diagnosed with a rare urea cycle disorder and received a first-of-its-kind personalized CRISPR gene-editing…
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/…
I discuss the urgent crisis from the loss of federal support of science in the US and recent clinical gene editing breakthroughs with @WalterIsaacson & @amanpour on @AmanpourCoPBS, airing on @PBS tonight at 11 pm ET, and on @cnni earlier today. Pls share! youtube.com/watch?v=8YhJM6…
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.
Thank you Amanda Keener, @Nature & @SeegeneUSA for the great article about the powers of whole genome sequencing and our daughter's diagnostic journey. @UDNconnect @broadinstitute @VGaneshMDPhD @AnneOtation @CarvillLab @IgorUlitsky nature.com/articles/d4158…
New @NatureGenet 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 @SinaiGenetics @NatureGenet #WGS #epilepsy #NDD #ReNUSyndromeUnited #morbidgene nature.com/articles/s4158…
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 @ane_ola that once again did an awesome job! cell.com/molecular-ther…
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 @IgorUlitsky, supported by @curechd2. 🔗 Read more: biorxiv.org/content/10.110…
🚨 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_ @UCLChemistry @OxfordChemistry
Engineering antisense oligonucleotides for targeted mRNA degradation through lysosomal trafficking ift.tt/jU35D49 #chemrxiv_biochem
This needs to be retweeted 5,000 ^5,000 times. Ah ah ah!
Five thousand!
Getting so close. Happening this week. It will probably break X. Ah ah ah!
Four thousand nine hundred ninety! Ah ah ah!
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.
Another lncRNA causing an epileptic encephalopathy with LGS. Amazing work @HTChaoLab
Child with rare #epilepticDisorder receives long-awaited #diagnosis. Dr. HT Chao @HTChaoLab explains. @bcmhouston @TCHResearchNews @BaylorGenetics @AJMGEditors @bcmneurology @bcmgenetics @bcm_neurosci @TexasChildrens #chromothripsis bcm.edu/news/child-wit…
Standing room only in @IgorUlitsky 's day on nucleic acid therapeutics. 🇮🇱's biotech and science is 💪💪💪