The Voltage-Gated Calcium Channel Collective
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
@cavx.bsky.social
PhD Program in Innsbruck, Austria that specializes in voltage-gated calcium channels. We work on its basic biophysical properties and physiological roles in multiple systems (nervous, endocrine, visual, auditory, cardiovascular, muscular). cavx.at
@chcharityuk.bsky.social
Supporting children and young adults with Congenital Hyperinsulinism. Family Support Group Patient Led Research Advocacy Family Days and Conferences https://linktr.ee/chcharityuk
@vatpasealliance.org
Empower and unite families affected by v-ATPase genetic disorders Advance Scientific Research on v-ATPase. Ultimately get a Cure! 🧬 Several ATP6V- genes
@epilepsy-sci.bsky.social
Physician Scientist in Epilepsy Hertie Institute Tübingen Precision Therapy l RNA-Seq KCNA2, KCNA1 and SCN1A
@e-l-h-i.bsky.social
@naniontech.bsky.social
For 20+ years, Nanion combines exceptional instrumentation with trusted scientific support, to accelerate successful drug development and scientific discoveries.
@micheledcollins.bsky.social
Founder of Hope for ULD, wife, mom, grandmother, teacher, animal lover, follower of Jesus, finding great value in truth, integrity and compassion, fighting #RareEpilepsy
@fikri-birey.bsky.social
Assistant Professor, Department of Human Genetics, Emory University. Human brain development & disease + stem cell-based models. bireylab.com brainorganoidhub.com
@curescn2a.bsky.social
Eliana’s Mom. Advocate and Trustee for FamilieSCN2A Foundation. Special Education Teacher. Sports Lover.
@alexmsci.bsky.social
Assistant Professor at the University of Iowa studying ion channels and other membrane proteins in 🦠 | Previously at HHMI Janelia and MSK Cancer Center | Avid 🥾 and 🎻.
@victorchang.edu.au
The Victor Chang Cardiac Research Institute is dedicated to finding cures for heart disease through world-class medical research. Sydney, Melbourne & Perth, Australia www.victorchang.edu.au
@xiaoyuchenxy.bsky.social
Scientist @sergiuppasca.bsky.social lab at Stanford University Shoshana Levy Early Career Fellow Autism Speaks Postdoc Fellow Stem cell models for human diseases
@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🧬 angel.aledo@vithas.es
@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
@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
@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
@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
@cathyabbott.bsky.social
Professor, eEF1A2/neurological disorders. Mostly talks about research, EDI (tries hard to be a good ally) but sometimes veers off into crafts and photos of Scotland. She/her, views own.
@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
@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.
@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
@harvardcellbio.bsky.social
Cell Bio@Harvard Med- dedicated to unraveling how the machines of the cell work. Specializing in membrane/organelles, ubiquitin & protein quality control, chromatin regulation, proteomics, metabolism, and sensory perception.https://cellbio.hms.harvard.edu/
@brettcollins.bsky.social
Structural biologist studying proteins that move things from A to B. University of Queensland, Institute for Molecular Bioscience. Centre for Cell Biology of Chronic Disease. He/Him. https://imb.uq.edu.au/research-groups/collins
@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
@johannes-pilic.bsky.social
Postdoc at ETH Zurich in the Kleele lab. I'm interested in mitochondria, microscopy and systems biology.
@drashleynm.bsky.social
Pediatric Neuropsychologist @ Children’s Colorado. Assistant Professor @ Univ of Colorado. Epilepsy & (Neuro)genetics. Advocate. Decolonizer. Rescue dog mama x 3.
@npho.bsky.social
Building supercomputers and other scientific computing infrastructure for researchers in the higher education, non-profit, and government spaces. Personal account and opinions are my own.