FamilieSCN2A Foundation
"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.
@curescn2a.bsky.social
Eliana’s Mom. Advocate and Trustee for FamilieSCN2A Foundation. Special Education Teacher. Sports Lover.
@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
@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
@kearneylab.bsky.social
Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
@therddr.bsky.social
https://TheRDDR.org RDDR is an invaluable resource dedicated to the storage, organization, and dissemination of rare disease research datasets.
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@clirinx.bsky.social
Clinical Research IT for Epilepsy & Rare Diseases Natural Hx Studies, Patient Registries, Electronic Data Collection Creator of The CRID and The RDDR Web: https://clirinx.com
@cacna1c.bsky.social
Improving diagnosis, treatment and care of those living with #CACNA1C related disorders including #TimothySyndrome and #LongQT8. Registered charity no: 1185523. NGO Source certified 501(c)(3) equivalency determination. https://linktr.ee/cacna1c
@rhuganir.bsky.social
I am a neuroscientist at Johns hopkins University interested in the molecular mechanisms underlying learning and memory in health and disease.
@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
@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.
@jillianmckee.bsky.social
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
@lkrsh89.bsky.social
Interested in how proteins are made and maintained in cells | #Membraneprotein, #ERAD, #molecularchaperones, #ubiquitin #signalling | Now: Postdoc @MRC-PPU, Dundee | Prev. Postdocs: LKC-NTU, SG and Dunn School @Oxford | BSc and PhD: WEHI, UniMelb, AUS.
@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
@ljmarksnyc.bsky.social
Rare disease advocate; nonprofit leader; tuberous sclerosis complex mom; SYNGAP1 sister. Committed to advancing human rights, trans rights, social justice, equity/belonging. Views mine
@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.
@biorxiv-neursci.bsky.social
@molegtracker.bsky.social
Automated Tracking of the Missouri State Legislature For any question, concerns, or feedback please reach out to @lukekrewson.bsky.social For federal bill tracking follow @congresstracker.bsky.social
@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
@bsky.app
official Bluesky account (check username👆) Bugs, feature requests, feedback: support@bsky.app