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Bluesky Follows
v-ATPase Alliance
Follows by @vatpasealliance.org
Wade Harper Lab
Registered:16 Aug 2024 18:56
Follow date:25 Jul 2025 23:12
Professor and Chair of Cell Biology at harvardcellbio , all things ubiquitin, autophagy, protein/organelle quality control & proteomics (website:harper.hms.harvard.edu). Mostly posting from @harvardcellbio.bsky.social
The Notorious EEG (M. Scott Perry MD)
Registered:13 Nov 2024 03:08
Follow date:7 Mar 2025 14:01
Epileptologist/Head of Neurosciences @cookchildrens, I 💜 #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
Madeleine Oudin
Registered:20 Sep 2023 19:44
Follow date:7 Mar 2025 14:01
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
Torie Robinson
Registered:6 Sep 2024 02:01
Follow date:7 Mar 2025 14:01
🎬 Epilepsy Sparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | PPI Lead | #Epilepsy & #MentalHealth Research fiend | All views my own
Gemma Carvill
Registered:27 Sep 2023 00:45
Follow date:7 Mar 2025 14:01
rare disease neurogeneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | here for the science, lab fun & occasionally my tiny hooman
https://sites.northwestern.edu...
Ana Mingorance
Registered:15 Nov 2024 12:49
Follow date:7 Mar 2025 14:01
Coalition to Cure CHD2
Registered:12 Nov 2024 00:24
Follow date:7 Mar 2025 14:01
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
Heather Mefford, MD, PhD
Registered:29 Sep 2023 14:29
Follow date:7 Mar 2025 14:01
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
Jillian McKee, MD, PhD
Registered:14 Nov 2024 23:32
Follow date:7 Mar 2025 14:01
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
@cureSYNGAP1
Registered:15 Nov 2023 20:14
Follow date:7 Mar 2025 14:01
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
scn8a.bsky.social
Registered:18 Nov 2024 00:07
Follow date:7 Mar 2025 14:01
Epilepsy Sparks
Registered:16 Nov 2024 12:18
Follow date:7 Mar 2025 14:01
Educating re the #epilepsies 🧠⚡🔬🧬! Check out our podcast & website! We bridge the comms gaps between clinicians, academics, & people with an epilepsy!
ingohelbig.bsky.social
Registered:15 Nov 2024 22:17
Follow date:7 Mar 2025 14:01
Hope for ULD
Registered:13 Nov 2024 13:40
Follow date:7 Mar 2025 14:01
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
Registered:25 Jul 2023 03:54
Follow date:7 Mar 2025 14:01
Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
Dravet Syndrome Foundation
Registered:18 Dec 2023 19:32
Follow date:7 Mar 2025 14:01
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
The Voltage-Gated Calcium Channel Collective
Registered:17 Nov 2024 14:04
Follow date:7 Mar 2025 14:01
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
Dan Lavery
Registered:8 Nov 2024 22:09
Follow date:7 Mar 2025 14:01
Loulou Foundation, tackling CDKL5 Deficiency Disorder in collaboration with our amazing patient families.
Christina SanInocencio
Registered:11 Nov 2024 04:26
Follow date:7 Mar 2025 14:01
Qualitative health communication researcher. Rare disease advocate.
Assistant Professor of Communication. LGS sibling. LI, NYC & CT
Kevin Bender
Registered:21 Aug 2023 14:22
Follow date:7 Mar 2025 14:01
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.
Calan
Registered:13 Nov 2024 19:08
Follow date:7 Mar 2025 14:01
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
Cathy Abbott
Registered:23 Aug 2023 13:54
Follow date:7 Mar 2025 14:01
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.
Veronica Hood, PhD
Registered:17 Feb 2024 18:40
Follow date:7 Mar 2025 14:01
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.
Jeff Calhoun
Registered:19 Aug 2023 21:58
Follow date:7 Mar 2025 14:01
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.
rareepilepsy.bsky.social
Registered:19 Nov 2024 15:48
Follow date:7 Mar 2025 14:01
drdarcy.bsky.social
Registered:15 Nov 2024 18:34
Follow date:7 Mar 2025 14:01
Neurologist and clinician scientist specializing in rare genetic disorders that result in epilepsy and autism and intellectual disabilities. Oh I also like other stuff too.
Marissa
Registered:13 Nov 2024 22:27
Follow date:7 Mar 2025 14:01
#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
Registered:21 Nov 2024 02:56
Follow date:7 Mar 2025 14:01
Brain research lab interested in #neurons, #astrocytes, #motor control, #memory, and #neurodevelopmental encephalopathies, #STXBP1, #GABRB3 #epilepsy #hippocampus #interneurons #cortex #serotonin #fatigue #synapse
Christel Depienne
Registered:15 Nov 2024 07:07
Follow date:7 Mar 2025 14:01
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Chow
Registered:16 Nov 2024 10:32
Follow date:7 Mar 2025 14:01
NHMRC Emerging Leadership Fellow | Senior Lecturer in pharmacology, Sydney Pharmacy School, The University of Sydney 🪃🐨🦘☕ Ion channels: LGICs, VGICs and leak channels. 🔬
FamilieSCN2A Foundation
Registered:22 Nov 2024 14:03
Follow date:7 Mar 2025 14:01
"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.
Dr. Ashley Nguyen-Martinez
Registered:17 Nov 2024 06:34
Follow date:7 Mar 2025 14:01
Pediatric Neuropsychologist @ Children’s Colorado. Assistant Professor @ Univ of Colorado. Epilepsy & (Neuro)genetics. Advocate. Rescue dog mama x 3.
CDKL5 in Color
Registered:15 Nov 2024 21:11
Follow date:7 Mar 2025 14:01
On the CDKL5 in Color podcast you'll hear lessons learned direct from parent caregivers of children living with #CDKL5 Deficiency Disorder, a rare developmental and epileptic encephalopathy. www.CDKL5inColor.com
Pangkong Fox
Registered:20 Nov 2024 20:28
Follow date:7 Mar 2025 14:01
Scientist turned educator turned stay-at-home-mom turned rare disease parent/caregiver turned science engagement director and advocate.
www.cacna1a.org
Dr. Ina Klockner🧬👩🔬🔬
Registered:18 Nov 2024 15:16
Follow date:7 Mar 2025 14:01
Scientist | former Postdoc at The University of North Carolina at Chapel Hill (USA) | now at UKM Münster (Germany) | Gene Therapy & Post-Transcriptional Gene Regulation & Molecular Genetics | she/her | 🇩🇪> 🇺🇲>🇩🇪
Reza Maroofian
Registered:17 Nov 2024 23:09
Follow date:7 Mar 2025 14:01
Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
Jillian Hastings Ward
Registered:10 Nov 2024 10:20
Follow date:7 Mar 2025 14:01
'that mother' - #R4Today🎙 Patient advocate, mum and wife. Genomics fan. GRI genes. Rare disease life. Poet and photographer. MBE!
JB Manent
Registered:3 Dec 2023 08:56
Follow date:7 Mar 2025 14:01
Developmental neurobiologist studying cortical malformations (grey matter heterotopia) and #epilepsy at INMED, INSERM in Marseille, France
https://orcid.org/0000-0002-24...
Henrike Heyne
Registered:25 Nov 2024 07:46
Follow date:7 Mar 2025 14:01
Research group leader at Hasso Plattner Institute.
Medical genomics, precision medicine, epilepsy.
Rebekka S. Dahl
Registered:9 Nov 2024 19:22
Follow date:7 Mar 2025 14:01
PhD student & Bioinformatician @The Danish Epilepsy Centre/University of Southern Denmark🇩🇰
Computational Biology 👩💻 Clinical Genetics 🧬 Rare Diseases🦓
francescafuria.bsky.social
Registered:28 Nov 2024 07:37
Follow date:7 Mar 2025 14:01
(Elizabeth) Emma Palmer
Registered:28 Nov 2024 10:37
Follow date:7 Mar 2025 14:01
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/p...
www.geneequal.com www.rarediseasesnsw.org.au
Alina Ivaniuk
Registered:28 Nov 2024 14:32
Follow date:7 Mar 2025 14:01
[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
RASopathies Network
Registered:25 Nov 2024 19:25
Follow date:7 Mar 2025 14:01
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease
by Stronach in Pittsburgh
KCNQ2 Cure Alliance
Registered:2 Dec 2024 16:47
Follow date:7 Mar 2025 14:01
⚡ Supporting breakthroughs for KCNQ2 families
🧬 Research | Advocacy | Hope
kcnq2cure.org
VP & Patient Lead at CURE GABA-A
Registered:9 Dec 2024 05:08
Follow date:7 Mar 2025 14:01
PURA Foundation Australia
Registered:8 Dec 2024 07:40
Follow date:7 Mar 2025 14:01
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.
Peter Müller-Wöhrstein
Registered:16 Jan 2025 18:13
Follow date:7 Mar 2025 14:01
Physician Scientist in Epilepsy
Hertie Institute Tübingen
Precision Therapy l RNA-Seq
KCNA2, KCNA1 and SCN1A
Katja Kobow
Registered:17 Jan 2025 18:16
Follow date:7 Mar 2025 14:01
HNRNP Family Foundation
Registered:22 Jan 2025 19:24
Follow date:7 Mar 2025 14:01
Nonprofit dedicated to improving the lives of those affected by HNRNP-Related Neurodevelopmental Disorders through community and research.