Ana Mingorance

Gene therapies for neurogenetic disorders, Trends in Molecular Medicine

"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...

CDKL5 pilot grant awardees for 2025, to support basic and therapeutics research on CDKL5 and CDKL5 Deficiency Disorder. Provided by the Loulou Foundation in collaboration with the Orphan Disease Center at the University of Pennsylvania Perelman School of Medicine.

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 | Penn State University The greater than three-fold increase in autism diagnoses among students in special education programs in the United States between 2000 and 2010 may be due in large part to the reclassification of ind...

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...

The structural biology of deoxyhypusination complexes In this perspective, Wątor-Wilk et al. discuss the structural biology of deoxyhypusination, essential for eIF5A/aIF5A activation. Comparing recent crystal and cryo-EM structures across different speci...

🧬 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...

You were the first person I added 😉

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...

Remembering a remarkable Duchenne champion Patient advocate Austin Leclaire, who died Feb. 1, played a pivotal role in spurring the development of the first medicines to treat Duchenne muscular dystrophy.

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...

Weird 'Obelisks' Found in Human Gut May be Virus-Like Entities Rod-shaped fragments of RNA called “obelisks” were discovered in gut and mouth bacteria for the first time

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...

I have that problem also when trying to reduce text to fit the word limit, the more I read it the more I add 😆

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

Opinion | I’m a health researcher. NIH’s pause on research grants could have a devastating cost. This is a potentially devastating event — not just for the scientific community, but for all Americans.

For a broader picture, check also www.msnbc.com/opinion/msnb...

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 💔

Of course! good to find you here 😊 I have also tracked down some of the PMS researchers and families in this network. As soon as CureSHANK gets an account we will put together the starter park.

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

Trump's NIH Freeze Puts Scientific Research at Risk America’s best scientific minds are scrambling to determine the impact of the disruption.

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

Thank you for sharing such beautiful cozy moment 💜

Hi Mark, I'm still getting to know the rare disease crowd here in bluesky and use it irregularly, so I wouldn't know myself. One of the main diseases that I work with is CDKL5, which is very close to Rett, so we keep an eye on your field and are cheering for those gene therapies 😁

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

The natural history of CDKL5 deficiency disorder into adulthood Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical ...

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!

We are recruiting group leaders! - IBDM | Institut de Biologie du Développement de Marseille The Institut de Biologie du Développement de Marseille (IBDM) is inviting applications for group leader positions. We are seeking innovative researchers who aim to address fundamental questions in bio...

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...

Neurogenetics Fellowship | NYU Langone Health NYU Grossman School of Medicine’s Neurogenetics Fellowship focuses on care for complex neurogenetic conditions and groundbreaking research.

Interested in #neurogenetics? @nyugrossman @NYUneurologyres has a neurogenetics fellowship open to both pediatric or adult trainees!

med.nyu.edu/departments-...

AES 2024: THE FUTURE IS NOW — DRACAENA The American Epilepsy Society (AES) meeting is the largest epilepsy meeting of the year, and because it takes place every month of December it also serves as an annual review on the understanding and ...

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

Thank you Alfredo!

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? 💚