Please watch this video about Jaxon, and see Jaxon clapping during the intro 🥰🥰

A difficult birth, then 'developmental delays' to'autism' to epilepsy and the journey to a gene. It is the story of a big boy with #SYNGAP1 , but could be the story of many with a #RareDisease 🦓

Having Jaxon's #SYNGAP1 diagnosis 'was a sense of relief, we were finally able to put our finger on it!' - Monica Harding, Jaxon's mom

Trailer - youtu.be/jjiGzDAxUh0
Details - Syngap.Fund/Jaxon
Donate - givebutter.com/TZjVIv

#ConnectionIsEverything

Hanging out with the pediatric oncologist

El Instituto de Neurociencias Vithas Madrid ha nacido con la vocación de brindar una asistencia integral y de excelencia a pacientes de todas las edades desde la #Neurología , #Neuropediatría , #Neurocirugía y #SaludMental 🧠

Big news for #Dravet coming from Stoke Therapeutics this afternoon! Newest data from trials of STK001 ASO:
-median sz reduction 74% at 6m with high dose
-meaningful improvements in non-seizure outcomes sustained at lower doses out to 12 months
- treatment well tolerated

Finally a

So excited for our Dravet community! Stoke Therapeutics (NASDAQ:STOK) reported positive results from studies for its drug STK-001 in the treatment of children and adolescents with Dravet syndrome, a genetic form of epilepsy. #curedravet #dravet

sec.gov/Archives/edgar…

Spinraza - the most impactful genetic medicine in history - works by upregulating translation of an mRNA.
Could this be scene 1, take 2?…
What a majestic hope to harbor - a data-based one!

investor.stoketherapeutics.com/news-releases/…

💜Stoke Therapeutics announces fantastic results from full Phase 1/2 trial in #Dravet syndrome:
- 80% seizure reduction (and on top of fenfluramine!)
- Documented improvements in cognition and behavior
- No new safety findings
- FDA clearance of target Ph3 doses

investor.stoketherapeutics.com/news-releases/…

✨Taysha announced great data with first 2 ADULT #Rett patients, now moving to higher gene therapy dose.

Some great quotes!
🟢'gained ability to sit unassisted for the first time in over a decade'
🟢'reduced hand stereotypies for the first time since regression at age three'

🧠 Neuroscientist in the Boston area?
🦓 or attending the #WODC orphan meeting in April?

Then check out the #SHANK3 Phelan-McDermid symposium that CureSHANK is hosting at MassBio Hub on April 26 right after the WODC.

Details, program and registration: esg.swoogo.com/CureSHANK4_25_…

#CDKL5 es una de las causas más frecuentes de #epilepsia y trastornos del #neurodesarrollo de origen #genético 🧬

➡️En esta publicación #openaccess un grupo de expertos y movimiento asociativo colaboramos para intentar dar algunas recomendaciones de Dx y #tratamiento 💊

Ser científico en España...

🗓️ Este domingo a las 11am hora Española hablamos de Phelan-McDermid #SHANK3 y la primera terapia génica que llega a ensayos clínicos.

Si os perdisteis el webinar en inglés de Jaguar Gene Therapy y CureSHANK, os contaremos lo que ya se sabe de ese primer ensayo clínico 💚

With today's announcement from Encoded Therapeutics, the #Dravet trials with gene therapy ETX101 are:
- Australia WAYFINDER: 4 kids ages 3-7
- USA ENDEAVOR: 4 kids under 3 (part 1)
- UK EXPEDITION: 4 kids under 4

All to start in 2024 to measure safety, tolerability and efficacy signal.

Entrevistar a Ana Mingorance es simplemente un honor Ana no solo es una persona con una personalidad arrolladora pero con un conocimiento y empatía profunda sobre las enfermedades raras. Si no haz escuchado no te lo pierdas! Mas que Raras un podcast por latinas para latinos-SHER

People always ask me what it’s like to have a daughter with Dravet Syndrome.

Here’s a typical morning…

Just a small dose of our everyday.

No pun intended 😂😂

Scientists at the Crick have found a new way to treat one of the most common types of genetic epilepsy, CDKL5 deficiency disorder

Read more from former Crick PhD student @marg_silvestre, now a postdoc at MPI for Brain Research, and group leader Sila Ultanir

crick.ac.uk/news-and-repor…

Encoded announces US IND clearance and Australian CTA approval for gene therapy candidate ETX101 for Dravet syndrome. Phase 1/2 clinical trials are planned to begin in the first half of 2024.
More: ow.ly/JRUb50QypN1
#GeneTherapy #DravetSyndrome #ETX101 #ENDEAVOR #WAYFINDER