Cure GABRB2

@GABA_Alliance Hello to Pascale and our friends @GABA_Alliance and @GABRA1Village

Meet Pascale (United Kingdom)- a member of the GABA-A Alliance community: Pascale was diagnosed with a de novo mutation on the #GABRA1 gene. She is highly complex and has #epilepsy, limited mobility, is non-verbal, on the ASD pathway, and has abnormal movements (continued)

@GABA_Alliance Great news!

We are looking to unite individuals with #GABA-A disorders across the globe: #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG2 #GABRD #GABRQ. Visit our website and we can help you connect with others! gabaa.org

Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants biorxiv.org/cgi/content/sh… #bioRxiv

RT for #GABRB2 and other GABA-A disorders, now available on the platform!

#EpilepsyAwareness Meet some of our kids who struggle with #GABRB2 genetic epilepsy curegabrb2.org/meet-the-kids

Great to kick start the Australian arm of our #NHMRC ideas grant! #GABRA1, #GABRA3,#GABRB2, #GABRB3, #GABRD, #GABRG2 Thank you @ReidLab_Florey for coming to Sydney! 😔 @FiladelfiaGene1 that you weren't here to join us. @GABRA1Village @CGabrb2 @RareEpilepsy

Excited to have hosted a very productive kick-off meeting of our 🇩🇰🇦🇺 research project: From disease-causing variants to targeted therapy in GABA-A receptor related epilepsies 🧬🧠💜 #Epilepsy #Genetics #PrecisionMedicine #Collaboration #StrongerTogether @lundbeckfonden

@FiladelfiaGene1 @GABRA1Village @Philip_K_Ahring @LabPerrier @LalDennis Wow, great news to start a new year! Congrats to you and your team. Thank you for your work on GABA-A disorders.

Deeply honored to receive a grant from the Lundbeck Foundation Collaborative Projects programme! Learn more about our collaborative project on #GABA-A receptor related epilepsies 👇 #Epilepsy #PrecisionMedicine @CGabrb2 @GABRA1Village @Philip_K_Ahring @LabPerrier @LalDennis

Read more about our story here and how you can become apart of Scarlett's Village! #neurotwitter #gabra1 #epilepsy gabra1village.org/our-story

Tomorrow our Co-founder and CEO @onnofaber will speak on "Filling the Research Void for Rare Diseases" at CDX Accelerate Health + Wellness. Learn more: techonomy.com/event/cdx-acce…

@NazaninAzarine1 @MaryChebib @Philip_K_Ahring @FilaResearch @FiladelfiaGene1 @Vivian_WY_Liao @AllanBayat @Katrine92658231 @AbsalomNathan Great news! Thank you for your work on GABRB2

I have arrived in Sydney 2 days ago to do more experiments on #GABRB2 in Brain and Mind centre, and I am looking forward to learn more about GABA during my research stay 🧠 Thank you prof. @MaryChebib, @Philip_K_Ahring and dear Brad for the warm welcome 🌸 #Epilepsy @CGabrb2

We are excited to share a new short film that tells our story from the perspectives of our co-founders and leaders. Each member of our team is dedicated to changing the way that potential therapies are discovered and developed for rare genetic diseases. youtu.be/7tniWVgEJK8

theday.com/local-news/202… #GABA-A #GABRB2 #epilepsy #genetics #raredisease

Meet ❤️Zayden from Australia. Tragically, Zayden passed away due to GABRB2 in 2021. Read about Zayden's life, written by his mom. curegabrb2.org/zayden #GABRB2 #epilepsy

Say hello to Agata ❤️ from Poland! She is one of our precious children who is diagnosed with a #GABRB2 gene mutation. Read about Agata here: curegabrb2.org/agata Please share our story and give us a follow and re-tweet! If you can please follow the links to the donate page

Fundamental para la medicina de precisión es conocer si es ganancia o pérdida de función. Para canalopatías del #sodio, tenemos el SCN portal, una herramienta muy útil: scn-portal.broadinstitute.org Gracias al equipo que lo hizo posible: @LalDennis @FiladelfiaGene1 y otros