Scarlett's GABRA1 Village
@gabra1village
Supporting GABRA1 gene mutation research
Fund: give.rarevillage.org/campaign/scarl…
Parents: facebook.com/groups/19284738
ID: 1520606839876075521
http://www.gabra1village.org/ 01-05-2022 03:31:53
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66 Followers
116 Following
Rare Disease Day
@rarediseaseday
29 February 2024 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are affected by rare diseases. #RareDiseaseDay
Rhys Thomas
@dr_rhys
Consultant Neurologist and Epilepsy Neuroscientist: Mild mannered doctor by day; mild mannered doctor by night
EveryLife Foundation
@everylifeorg
Nonprofit org. dedicated to advancing the development of treatment & diagnostic opportunities for rare disease patients through science-driven public policy.
Marcilia Martyn
@marmartyn
Neurologista Infantil
Ethan Perlstein bio/acc
@eperlste
ceo @PerlaraPBC (@ycombinator W16), ceo @epalrestat, ceo @endrarediseases, solo vc @AngelList, evo pharmacologist, mTOR worshipper, cofounder of K&L, $CURES
caterina ancora
@caterina_ancora
Child Neurology & Psychiatry, tireless reader, cat lady and windsurf lover
Sebastian Ortiz, MD
@sebasortizdelar
Pediatric Neurologist - Epileptologist - PhD student at @SyddanskUni - @yesilae Chair 🇨🇴🇩🇰
Agustina Fernandez G
@agusferg
Partner @FernandezSecco. Rare Mum VP & Patient Care Lead @CureGABAA
Mike Graglia 🌻
@jmgraglia
CEO @cureSYNGAP1 🧬 Pod SynGAP.Fund/10 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
Chris Chatham
@chchatham
Pure science on blue sky (chchatham dot bsky dot social). On X, pushback on the redshift
American Epilepsy Society
@amepilepsysoc
We support research and education for professionals working towards a world without epilepsy. RTs ≠ endorsements. Also @amepilepsysoc.bsky.social.
Beacon for Rare Diseases
@rarebeacon
Beacon is a UK-based charity that is building a united rare disease community with patient groups at its heart. Previously known as Findacure.
amy mctague
@a_mctague
childhood epilepsy clinician scientist Great Ormond Street UCL Institute of Child Health. All views my own
Finding that elusive diagnosis expeditiously.
@rarediseasedxrx
RareMDx is a rare disease diagnostic tool. It includes 4,009 curated diseases and 7,444 signs/symptoms, each weighted by relevance to specific disorders.
Perlara
@perlarapbc
perlara.com The first biotech public benefit corporation est. 2014. Direct-to-patient and decentralized. Co-owner @epalrestat
Simons Searchlight
@s_searchlight
Accelerating research by collecting data/biosamples from ppl w/rare #genetic causes of #autism & other neurodev dis. Researchers can get data: bit.ly/SFARI_BASE
Aman Ullah, PhD
@amankhawajaa
Assistant Professor Biotechnology| Genetics and Bioinformatics; Hereditary Diseases and Leiomyomas; Single Cell Multiomics; NGS, Biostats., Programming
FamilieSCN2A
@familiescn2a
Our vision is to find effective treatments and a cure for SCN2A disorders.
KCNQ2 Cure Alliance
@kcnq2cure
Our promise is to educate and to advance research leading to treatments or a cure for patients living with the genetic disorder KCNQ2
Patient Worthy
@patientworthy
We're a resource for engaging, informative content and rare patient news, well done.
Gerry Nesbitt @ CLIRINX Clinical Research IT
@clirinx
Clinical Research IT 🇺🇸 🇨🇮 for Epilepsy & Rare Diseases I prefer BlueSky. Find me at: bsky.app/profile/clirin…
Torie Robinson 🇺🇦
@torierobinson10
@EpilepsySparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | #Epilepsy & #MentalHealth Research fiend | @MaudsleyNHS Gvnr | All views my own
Reza Shervin Badv
@badvreza
Pediatric Neurologist and Epileptologist
Leah
@leahedscn2a
Founder, Executive Director and Former President of the FamilieSCN2A Foundation. Mom and rare disease advocate of epilepsy and autism, SCN2A-related disorders.
Effie Parks
@onceuponagene
Rare Disease Advocate | Award Winning Podcaster | Speaker | Captain Connection | RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
SynGAP Research Fund (SRF)
@curesyngap1
#SYNGAP1 🧬 = 🧠NDD DEE causing #Epilepsy #Autism #ID #Sleep #GI. Incidence = 6️⃣.1️⃣/💯k ICD10 syngap.fund/F78A1 syngap.fund/10 🎙
David Lewis-Smith
@dlsneurocyclist
Dad & neurologist, semi-retired cyclist & musician, and student of the phenotypes & genetics of epilepsies aiming to improve outcomes for PWE.
Konrad Platzer
@platzer_k
Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
DEE-P Connections
@dee_pconnection
Connecting families with severe developmental & epileptic encephalopathies to information, resources and each other
Brain Ablaze
@brainablaze
As people with Epilepsy, we raise awareness for Epilepsy and support anyone having seizures. | The Brain Ablaze Epilepsy Podcast | Blog | Support
CACNA1A Foundation
@cacna1a
Nonprofit dedicated to a brighter future for those with CACNA1A variants. On a mission to fund life changing research while supporting families along the way.
Allan Bayat, associated professor
@allanbayat
Pediatrician/translational researcher #Epilepsy #Genetics #PrecisionMedicine #CerebralPalsy #RareDisorders #EpilepsyAwarenessMonth #DanishEpilepsyCenter
Filadelfia Research
@filaresearch
Research team at Danish Epilepsy Centre - we participate in international epilepsy research networks
Nolan Boulter
@nolanbelieve
KCNQ2 Warrior
Michael Bowen
@bowenlabtweets
Neuroscientist and psychopharmacologist working on the discovery and development of novel treatments for addiction and social dysfunction in brain disorders
CRID - Unique Patient ID/clinical research
@_thecrid
More data sharing, less data silos. I prefer BlueSky . Find me at: bsky.app/profile/thecri…
Vivian Liao
@vivian_wy_liao
Research Fellow at Ion Channel Drug Discovery Group Usyd Molecular pharmacologist & medicinal chemist
Mary Chebib
@marychebib
Professor of Pharmaceutical Neuroscience and Head of School of Medical Science, Faculty of Medicine and Health, University of Sydney
Vikram Mukherjee
@vmukherjeemed
Children’s Hospital of Philadelphia | Helbig Lab | OMS I Alabama College of Osteopathic Medicine
Institut für Humangenetik 🧬 | Uniklinik Leipzig
@hug_leipzig
Das Institut bietet genetische Diagnostik & ambulante Beratungen an. Zudem erfolgt Forschung zu seltenen Erkrankungen & studentische Lehre am @UKL_Leipzig.
KS
@sskkmm2022
Genes and Genetics🧬
The KCNC1 Foundation
@kcnc1foundation
Supporting research to find a cure for all those impacted by KCNC1-related disorders. 501(c)(3) Operating under The Rare Village as our fiscal sponsor.
Martyna Gabrielson
@martynagabriel1
The Reid Lab (Florey)
@reidlab_florey
Neurophysiology of Excitable Networks Group
SallyShaaban🇪🇬
@sallyshaaban90
Lecturer of Neurology, Mansoura University, Epileptologist at Mansoura Epilepsy Monitoring Unit @yesILAE Eastern Mediterranean Regional representative
GABA A Alliance
@gaba_alliance
Our mission is to improve the lives of individuals affected by GABA-A disorders across the globe.
Payseasl
@payseasl76853
The cold pool reflects the white moon, and the autumn rain covers the moss
Christian Bosselmann
@cmbosselmann
Clinician-Scientist at @HIHTuebingen | Epilepsy Research Fellow '23 @ClevelandClinic | Working with @LalDennis and @PfeiferLab | ⚡🧠⚡
Marian Galovic
@galovicmarian
Head of Epilepsy Unit at University Hospital Zurich, Switzerland. Chair of ILAE Career Development Commission. @Unispital_USZ @UCLIoN @yesILAE
GRIN2Bsyndrome
@grin2bsyndrome
Funding research & providing support & education to individuals & families impacted by GRIN2B-Related Neurodevelopmental Disorder. #GRIN2B