"Gene therapies for neurogenetic disorders" http://dlvr.it/TPHWjf Orrin Devinsky, @cnsdrughunter.bsky.social & colleagues @cp-trendsmolecmed.bsly.social #SfN2025

Hope for our #STXBP1 community 💜❤️💜 capsida.com/capsida-rece...

Congratulations to the 2025 CDKL5 Program of Excellence Pilot Grant awardees! The Loulou Foundation is excited to provide these awards, in collaboration with the Orphan Disease Center at the University of Pennsylvania Perelman School of Medicine, to support CDKL5 research. #CDKL5

Neuren Pharma announces agreement with FDA on #PhelanMcdermidSyndrome co-primary endpoints for Phase3: ➡️ Receptive communication (measured with Vineland) ➡️ Global improvement (measured with PMS-anchored CGI) Phase 3 to start mid-2025 ⭐ www.neurenpharma.com/showdownload... #PMS #SHANK3

Increasing prevalence of autism is due, in part, to changing diagnoses www.psu.edu/news/researc... - many cases of what used to be called 'intellectual disability' are now being diagnosed as 'autism'

Check out our "Gene therapies for neurogenetic disorders" review at @cp-trendsmolecmed.bsky.social So fun to write! We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓 www.sciencedirect.com/science/arti...

🧬 Mutations in the #DHPS gene, needed for the body to make hypusine, produce an ultra-rare neurodevelopmental disease of which there are only 8 patients known world-wide 🦓 Understanding the DHPS enzyme is needed to develop targeted medicines 👀 Cool recent review: www.cell.com/structure/ab...

Consejo del día...

Check out our "Gene therapies for neurogenetic disorders" review at @cp-trendsmolecmed.bsky.social So fun to write! We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓 www.sciencedirect.com/science/arti...

Austin Leclaire was a remarkable young man with Duchenne who raised awareness about his devastating disease, and as a patient advocate, played a pivotal role in spurring the development of the first medicines to treat it. Austin died on Feb. 1. He was 26. www.statnews.com/2025/02/06/a...

Prusiner said in an interview about his discovery of Prions: "if it wasn't a virus, and it wasn't a bacteria, then we knew what it was... it was a Nobel Prize" I'm reminded to that interview when reading about these "obelisks" RNA mini-life forms 🤯 www.scientificamerican.com/article/weir...

Here is a Starter Pack if you want to quickly find other accounts interested in #SHANK3 Phelan-McDermid syndrome 👀 Let me know if you would like to be included!! go.bsky.app/5LKoxop

FDA employees had to withdraw last week from external meetings, including the joint FDA-ASGCT workshop on AAV gene therapies. This has also impacted the PFDD meeting on Angelman syndrome. I'm hoping this "temporary pause" is short-lived. It is already hurting #RareDisease medicine development 💔

Attention #SHANK3 #Phelan-McDermid syndrome scientists and advocates: at CureSHANK we are planning to make a Starter Pack here in 🦋 so that it will be very easy for new members to follow the community. Let me know if you want to be added!!! ☑️ ☑️ ☑️ ☑️ ☑️

👋 Who else is here for CDKL5?? go.bsky.app/QEDPkZ4

Some thoughts on the confusion and anxiety created by the current freeze on communications, hiring, grant reviews, travel, etc at NIH (gift link):

I've updated the starter pack for rare genetic epilepsies 🧠🧬 It is a work in progress and I will continue to update the pack over the coming weeks 🤩 go.bsky.app/NXw4e8C

New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗ Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️ Angel Aledo-Serrano & David Lewis-Smith 💪👏 #Epilepsy 🧠 #Genetics 🧬 www.medrxiv.org/content/10.1...

Deadline extend to 19th January!

The @ibdm.bsky.social look for new team leaders! Apply by March 30th if you want to join us to study developmental biology as a PI! www.ibdm.univ-amu.fr/we-are-recru...

Interested in #neurogenetics? @nyugrossman @NYUneurologyres has a neurogenetics fellowship open to both pediatric or adult trainees! med.nyu.edu/departments-...

Here are my highlights from the progress that we saw at #AES2024 for rare epilepsy syndromes: 1 - The future is now: tangible progress in disease-modification 2 - Beyond seizures in DEEs 3 - Beyond the largest DEEs www.draccon.com/dracaena-rep... #Dravet #SYNGAP1 #STXBP1 #CDKL5

Looking forward to getting into LAX early to catch up with the traditional #SYNGAP1 Conference by @curesyngap1.bsky.social and the #Dravet Roundtable by @curedravet.bsky.social both on December 5th just before #AES2024 Who else is coming? 💚

Please share-we are hosting an in person (travel support available!) for trainees who want to consider CHOP/Penn labs for postdoc. Apply to have a chance to check out our top notch science and get a trip to Philly!

Explore "Expert Perspectives on Dravet Syndrome Management" with Dr. Scott Perry (@thenotoriouseeg.bsky.social), covering diagnosis, emerging therapies, and care strategies. Gain valuable insights here: bit.ly/4fHiMab #DSF #DravetSyndrome

Want to make beautiful scientific figures? Easy! The NIH released a library of 2000+ free scientific illustrations called *BioArt*. Check it out! bioart.niaid.nih.gov #AcademicSky #PsychSciSky 🧠🟦 🧪

🧬 If you work on a neurological #RareDisease you should be following the news around Neurogene's gene therapy for #Rett syndrome. They have very positive results in the clinic and also a really bad safety problem at a higher dose. Good chat with CEO in link: ir.neurogene.com/events/event...

Awesome talk by Wendy Chung on the results of the first 10,000 samples screened through the GUARDIAN genomic newborn screening pilot program in New York! #ASHG24 #ASHG2024 Important insights into the implementation of genomic sequencing for early diagnosis of #RareDiseases

Hey #epilepsy research people doing the great migration from the other side! I've just created this starter pack with a few names that I'll update as I get feedback, so please spread the word so we can build a community! go.bsky.app/B8pPi1n

Our paper was published a couple of months ago describing a new rodent model of SYNGAP1 related disorders, www.cell.com/cell-reports...

Moving over to Bluesky to keep talking about treatment development for #RareDiseases, #epilepsy, and neurodevelopmental diseases in a more friendly environment 🦋 Join me if that’s also your community 🧬🦓