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Reposted by Ana Mingorance

Sarah Green @sarahllewgreen.bsky.social · May 13

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

Capsida Receives FDA IND Clearance for Its First-in-Class, IV-administered Gene Therapy for STXBP1 Developmental and Epileptic Encephalopathy - Capsida Biotherapeutics

CAP-002 is the first engineered IV-delivered gene therapy that crosses the blood-brain-barrier and detargets the liver and dorsal root ganglia to enter the clinic THOUSAND OAKS, Calif., May 12, 2025 —...

capsida.com

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Reposted by Ana Mingorance

Dan Lavery @djlavery.bsky.social · May 1

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

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.

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Ana Mingorance @cnsdrughunter.bsky.social · Apr 14

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

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Kevin Mitchell @wiringthebrain.bsky.social · Apr 11

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'

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...

www.psu.edu

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Ana Mingorance @cnsdrughunter.bsky.social · Feb 17

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...

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Ana Mingorance @cnsdrughunter.bsky.social · Apr 9

🧬 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...

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...

www.cell.com

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Reposted by Ana Mingorance

Yo soy tu roja @yosoyturoja.bsky.social · Mar 17

Consejo del día...

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Ana Mingorance @cnsdrughunter.bsky.social · Mar 1

You were the first person I added 😉

Ana Mingorance @cnsdrughunter.bsky.social · Feb 17

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...

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Reposted by Ana Mingorance

Adam Feuerstein✡️ @adamfeuerstein.bsky.social · Feb 6

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...

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.

www.statnews.com

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Ana Mingorance @cnsdrughunter.bsky.social · Feb 2

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...

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

www.scientificamerican.com

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 29

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

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 28

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

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 28

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

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.

www.msnbc.com

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 28

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 💔

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 28

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.

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 27

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!!! ☑️ ☑️ ☑️ ☑️ ☑️

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CDKL5 in Color @cdkl5incolor.bsky.social · Jan 27

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

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Lisa Jarvis @lisamjarvis.bsky.social · Jan 24

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

Trump's NIH Freeze Puts Scientific Research at Risk

America’s best scientific minds are scrambling to determine the impact of the disruption.

www.bloomberg.com

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 26

Thank you for sharing such beautiful cozy moment 💜

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Ana Mingorance @cnsdrughunter.bsky.social · Jan 20

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 😁

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Rikke S. Møller @rikkesmoller.bsky.social · Nov 21

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

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 15

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...

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 ...

www.medrxiv.org

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Lignani Lab @lignanilab.bsky.social · Jan 6

Deadline extend to 19th January!

Lignani Lab @lignanilab.bsky.social · Dec 24

📢 We are looking for a dynamic, energetic and passionate postdoc fellow to work on in vivo electrophysiology to understand and treat neurological diseases! Deadline 8th January #neuropixels #braindynamics #epilepsy #neurodiseases

tinyurl.com/5n6sad38

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Baptiste Libé-Philippot @blibep.bsky.social · Jan 17

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...

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...

www.ibdm.univ-amu.fr

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