🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Go, Tom, GO!!! Runner and #PMS parent Tom Giles ran his first 50K race this weekend in preparation for his #9marathons9days #RaceforResearch supporting CureSHANK starting 6/27/25. Want to cheer Tom on, or even start your own fundraiser? We'll share details soon!

My daughter has #DravetSyndrome ,a #genetic rare and severe form of #epilepsy caused by a #mutation in her #scn1agene 🧬The more we raise awareness, the more we improve early diagnosis and reduce the feeling of isolation faced by families!PLEASE SHARE #Weneedacure #help #sos 🆘‼️

Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes dlvr.it/TK5cMd

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) Both endpoints looked good in the open-label Phase 2. Phase 3 to

La asociación ASOCIACIÓN CDKL5 pondrá en marcha el I Congreso Nacional Médico-Científico sobre #CDKL5 y otras #EED (encefalopatías #epilépticas y del desarrollo) Será el 17 de junio, …que es #CDKL5awarenessday💪👍 en Madrid #HIUNiñoJesus F. Investigación Hospital Infantil Univ Niño Jesús Expertos en #neuropediatría,

NeuroNOS is excited to share the BIG news from the #FDA! The #FDA granted us an Orphan Drug Designation for #PhelanMcDermidSyndrome, a Neurodevelopmental Disorder Linked to #Autism #OrphanDrug #NitricOxide #PMS #RareDisease nasdaq.com/press-release/…

We’re pleased to welcome Majid Jafar, global business leader, philanthropist, and co-founder of the Loulou Foundation, to the Advisory Council of the Oxford-Harrington Rare Disease Centre. Read more: tinyurl.com/2emjxp48

Congratulations to the #CDKL5Program of Excellence Pilot Grant 2025 awardees! These grants, awarded by the Loulou Foundation in collaboration with the The Orphan Disease Center @ UPenn support critical research on #CDKL5. #raredisease #louloufoundation #grants

MavriX Bio announced that the FDA has cleared its Investigational New Drug (IND) application for MVX-220, an investigational adeno-associated virus (AAV) gene therapy for the treatment of AS. Read the press release & FAQs: buff.ly/lXTh19C

Big milestone for #STXBP1: 1st gene therapy clinical trial! Capsida Biotherapeutics cleared by FDA for IND for CAP-002. Novel IV AAV capsid that crosses the BBB. We have huge unmet need. Thrilled for Capsida & excited for the potential for this therapy. bit.ly/stxcap002ind

Hablar de #CDKL5 es hablar de lucha , incertidumbre… pero también de esperanza 🌈, comunidad 🤝 y amor incondicional ❤️. Hoy lanzamos un vídeo muy especial 🎥 con testimonios reales. Así nació ASOCIACIÓN CDKL5 : para informar 📚, sostener 🖐🏼 y acompañar 🤗 youtu.be/ZjpAA1KunIc

Today "a milestone in the evolution of personalized therapies for rare & ultra-rare inborn errors of metabolism" —the 1st human to undergo custom genome editing —outgrowth of decades of NIH funded research nejm.org/doi/full/10.10… nejm.org/doi/full/10.10… NEJM

This is a long one but a great update! Check it out. youtu.be/9xO1TcO1Eus?si… #CureSYNGAP1 #SYNGAP1

This bi-annual Conference pushes the conversation about research beyond only treating the symptom of seizures but also finding treatments that target the whole syndrome. Registration is by invite only. If you are interested in attending, email us at [email protected]

📣 ¡Llega el I Congreso Nacional Médico-Científico CDKL5! 🧠✨ 🗓 17 junio 2025 📍 Hospital Niño Jesús, Madrid Charlas de expertos + entrega de la Beca de Investigación CDKL5 🇪🇸 📌 Inscripción gratuita 👉 ciberer.es/agenda/i-congr… #CongresoCDKL5 #EnfermedadesRaras #AACDKL5

BIG NEWS! Today, Taysha Gene Therapies provided exciting updates on their REVEAL phase 1/2 clinical trial of investigational gene therapy, TSHA-102, for Rett syndrome. Read more about the preliminary results and how our community made what's next possible here: rettsyndrome.org/tayshaupdate_0…

Es Día Internacional de Concienciación del Síndrome por Deficiencia de #CDKL5 #CDKL5AwarenessDay La deficiencia de CDKL5 es un tipo de #epilepsia genética que causa convulsiones de inicio temprano y diversos problemas de desarrollo. Están muy orgullosos porque hoy celebran algo

Today is CDKL5 awareness day. There's still no meaningful treatment for this devastating disease, which is why ordinary parents like us set out to accelerate the search for cures. Please consider donating to CURE5. youtu.be/b8W-Gew4odc?fe…

Ángel Aledo-Serrano, #neurólogo experto en #epilepsias genéticas: "El #futuro de los niños con deficiencia de CDKL5 no está escrito" 20minutos.es/noticia/572244… vía 20minutos.es

📰Fantastic news for the #CDKL5 patient community! UCB pharma announces positive results from the Phase 3 trial of fenfluramine for managing seizures in CDD. And right on time for the International CDKL5 Alliance conference that started also today in Rome! 💚