Matthew Wheeler 🦋
Physician-scientist @stanford medicine, AHFTC, genomics of rare disease, cardiovascular genetics, exercise multiomics, cardiomyopathy, novel therapeutics and data. #motrpac #UDN #Gregor #CFDE . Husband, kids and cats, mountains and snow. Resist hate.
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@thenotoriouseeg.bsky.social
Epileptologist/Head of Neurosciences @cookchildrens, I 💜 #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
@madeleineoudin.bsky.social
Tiampo Family Associate Professor at Tufts University, cancer and epilepsy researcher, fierce advocate for diversity and inclusion, mom of a daughter with the SCN8A epilepsy
@torierobinson.bsky.social
@EpilepsySparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | PPI Lead | #Epilepsy & #MentalHealth Research fiend | All views my own
@gc4gc.bsky.social
rare disease neurogeneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | here for the science, lab fun & occasionally my tiny hooman https://sites.northwestern.edu/carvilllab/
@aledoneuro.bsky.social
Neurologist🧠 Epileptologist, director of Vithas Clinical Neuroscience Institute & Epilepsy Center - #FND - Neurogenetics🧬 [email protected]
@cnsdrughunter.bsky.social
🧠 🧬 Neuroscientist. Looking for new medicines for #CDKL5, #SCN1A, #SHANK3, #DHPS and other neurological #RareDiseases with #epilepsy
@curechd2.bsky.social
Patient advocacy group serving those affected by CHD2, a rare developmental & epileptic encephalopathy (DEE) associated w/Jeavons/EEM, photosensitive seizures, autism + intellectual disability. Accelerating research & supporting community www.curechd2.org
@curesyngap1.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@jillianmckee.bsky.social
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
@lauren80.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@epilepsysparks.bsky.social
Educating re the #epilepsies 🧠⚡🔬🧬! Check out our podcast & website! We bridge the comms gaps between clinicians, academics, & people with an epilepsy!
@hopeforuld.bsky.social
Hope for ULD is uniting patients, families, doctors, and researchers to fund research, treatment, and education for Unverricht-Lundborg Disease ( #ULD ), also known as #EPM1. Learn more here: https://www.hopeforuld.org/ #RareEpilepsy #genetherapy
@kearneylab.bsky.social
Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
@curedravet.bsky.social
The mission of DSF is to raise funds for research into Dravet syndrome and related epilepsies, while offering support to patients and families. https://dravetfoundation.org
@thevgccc.bsky.social
Raising awareness & promoting collaboration across the #calcium #channelopathies. Composed of caregivers & individuals impacted by the channelopathies, alongside researchers and clinicians focused on the 10 calcium genes. https://www.thevgccc.org
@djlavery.bsky.social
Loulou Foundation, tackling CDKL5 Deficiency Disorder in collaboration with our amazing patient families.
@csaninocencio.bsky.social
Qualitative health communication researcher with a focus on rare epilepsy. Assistant Professor of Communication. LGS sibling. Founder, LGS Foundation; Board, Coalition to Cure CHD2; Advisor, FamilieSCN2A; Chair, Rare Epilepsy Network. LI, NYC & CT
@neurobender.bsky.social
Neuroscientist at UCSF. Studies everything related to neuronal ion channels—their modulation, their role in neuronal integration, and the intersection between these functions and neurodevelopmental and neuropsychiatric disorders.
@calancdkl5.bsky.social
Proud of the human I have become, proud Mum, Proud Wife, Proud Social Worker and Proud Patient Advocate and charity chair - CDKL5 UK BSc in Social Work and MSc in Global Health Policy
@sciencehood.bsky.social
Scientist. Advocate. Nerd. Scientific Director at Dravet Syndrome Foundation since 2020. PhD in Cell, Stem Cell, and Developmental Biology from University of Colorado Anschutz Medical Campus.
@calhoujd.bsky.social
Research Assistant Professor with Gemma Carvill (@CarvillLab on Twitter). Focus: epilepsy genetics. Twin. Ace cat dad. Occasional writer. I am only an egg. He/him.
@anothermarissa.bsky.social
#CDKL5 🧬 | Former school social worker turned stay-at-home medical mama | 🎙️Producer, content creator, & co-host of the CDKL5 in Color Podcast @cdkl5incolor.bsky.social www.CDKL5inColor.com
@perrier-lab.bsky.social
Brain research lab interested in #neurons, #astrocytes, #motor control, #memory, and #neurodevelopmental encephalopathies, #STXBP1, #GABRB3 #epilepsy #hippocampus #interneurons #cortex #serotonin #fatigue #synapse
@christeldepienne.bsky.social
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
@chowhanchua.bsky.social
NHMRC Emerging Leadership Fellow | Lecturer in pharmacology, Sydney Pharmacy School, The University of Sydney 🪃🐨🦘☕ Ion channels: LGICs, VGICs and leak channels. 🔬
@scn2a.bsky.social
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our team of leaders strive every day and, in every way, to improve the lives of not only the patients, but the entire family.
@drashleynm.bsky.social
Pediatric Neuropsychologist @ Children’s Colorado. Assistant Professor @ Univ of Colorado. Epilepsy & (Neuro)genetics. Advocate. Decolonizer. Rescue dog mama x 3.
@cdkl5incolor.bsky.social
On the CDKL5 in Color podcast you'll hear co-hosts Marissa & Amanda share lessons learned along the way as parent caregivers to children living with #CDKL5 Deficiency Disorder, a rare developmental and epileptic encephalopathy. www.CDKL5inColor.com
@pangkongfox.bsky.social
Scientist turned educator turned stay-at-home-mom turned rare disease parent/caregiver turned science engagement director and advocate. www.cacna1a.org
@inaklockner.bsky.social
Postdoc exploring new gene editing therapies for the neurodevelopmental disorder #AngelmanSyndrome at #UNCZylkaLab, also interested in post-transcriptional gene regulation via non-coding RNAs in neuromuscular disease |she/her|🇩🇪 🇺🇲
@reza-maroofian.bsky.social
Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
@jillianhw.bsky.social
'that mother' - #R4Today🎙 Patient advocate, mum and wife. Genomics fan. GRI genes. Rare disease life. Poet and photographer. MBE!
@jbmanent.bsky.social
Developmental neurobiologist studying cortical malformations (grey matter heterotopia) and #epilepsy at INMED, INSERM in Marseille, France https://orcid.org/0000-0002-2436-8593
@hheyne.bsky.social
Research group leader at Hasso Plattner Institute. Medical genomics, precision medicine, epilepsy.
@rebekkadahl.bsky.social
PhD student & Bioinformatician @The Danish Epilepsy Centre/University of Southern Denmark🇩🇰 Computational Biology 👩💻 Clinical Genetics 🧬 Rare Diseases🦓
@emmagenetics.bsky.social
Working with people living with rare conditions and intellectual disability to build an equitable, respectful and effective model of care. https://research.unsw.edu.au/people/dr-elizabeth-emma-palmer www.geneequal.com www.rarediseasesnsw.org.au
@alinaivaniuk.bsky.social
[She/Her] PGY1 Adult Neurology @Mayo Clinic Florida | Alumna, Precision Medicine in Epilepsy Fellowship @Cleveland Clinic | Vice Chair, ILAE Young Epilepsy Section | 🧬Neurogenetics | 🧠Surgical Epilepsy | ⚡Clinical Neurophysiology | 🔵🟡Proud Ukrainian
@rasnet.bsky.social
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh
@kcnq2.bsky.social
⚡ Supporting breakthroughs for KCNQ2 families 🧬 Research | Advocacy | Hope 🎯 Goal: $100K by 12/31 – Every dollar doubled! ❤️ Join us: https://givebutter.com/2024KCNQ2
@agustinafernandez.bsky.social
Rare Mom. IP Lawyer. #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3
@purafoundation.bsky.social
www.purafoundation.au We are a non-profit charitable organisation that assists in advancement of research and treatments for PURA syndrome. We support for families of, and individuals with, PURA syndrome in Australia and NZ.
@epilepsy-sci.bsky.social
Physician Scientist in Epilepsy Hertie Institute Tübingen Precision Therapy l RNA-Seq KCNA2, KCNA1 and SCN1A
@katjakobow.bsky.social
Epigenetics enthusiast. Working in molecular neuropathology 🧠🔬🧬 @FAU.de. Visiting scientist @UKL_Leipzig. Malformations and #epilepsy. DNA methylation and #aging. kobowlab.org
@hnrnpfamily.bsky.social
Nonprofit dedicated to improving the lives of those affected by HNRNP-Related Neurodevelopmental Disorders through community and research.