The MED13L Foundation
Where data fuels discovery and every variant finds a voice — Every Story Matters.
@chaiannng.bsky.social
ClinGen VCEP members for cardiac potassium and sodium channels. I provide functional data using Automated Patch Clamp as evidence for VUS reclassification in channelopathies. Disclaimer: “Opinions expressed are my own.”
@livingwellwithepilepsy.com
Your place for all things #epilepsy. Built by and for people living with and affected by #epilepsy. Around since 2009. Founder & CEO - Jessica K. Smith
@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
@marinahommersom.bsky.social
Neurophysiologist interested in human iPSC-derived neuronal communication
@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
@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
@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.
@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
@thecrid.bsky.social
https://TheCRID.org More data sharing, less data silos. CRID is a service that enables parents/patients create their own unique universal ID for clinical research.
@clementychow.bsky.social
henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab https://linktr.ee/clementchow
@therddr.bsky.social
https://TheRDDR.org RDDR is an invaluable resource dedicated to the storage, organization, and dissemination of rare disease research datasets.
@rarediseasectn.bsky.social
HRB-funded clinical trial network aiming to increase the quantity and quality of rare disease clinical trials in Ireland, keeping the patient voice at our core.
@nordrare.bsky.social
NORD is a patient advocacy organization leading the fight to improve the lives of rare disease patients. Alone we are rare. Together we are strong.® www.rarediseases.org
@arrefoundation.bsky.social
Supporting research for ASXL-related disorders: Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes
@pacbio.bsky.social
Our mission is to enable the promise of genomics to better human health by creating the world’s most advanced sequencing technologies.
@hnrnpfamily.bsky.social
Nonprofit dedicated to improving the lives of those affected by HNRNP-Related Neurodevelopmental Disorders through community and research.
@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
@amepilepsysoc.bsky.social
Official account for American Epilepsy Society. We support research + education for professionals working towards a world without epilepsy. RPs ≠ endorsements.
@kabukisyndrome.bsky.social
We drive research to treatments for this rare disease through collaboration, education, and fundraising. www.kabukisyndromefoundation.org
@dcameron.bsky.social
Assoc Prof of Psych, Sherwin Early Career Prof in Rock Ethics Institute @Penn State. Directs Empathy & Moral Psych Lab, Consortium on Moral Decision-Making. Assoc Editor @Emotion. Father of four (twin dad), husband, loves ☕, 🍺, 🎶, 📸. Views are my own.
@drdrxanderli.bsky.social
ChildNeurologist @BostonChildrens @HarvardMed. Using network imaging to understand/develop new therapies for #autism symptoms. @NIMHgov K23/@SFARIorg BTI Fellow
@bostonchildrens.bsky.social
📍Boston, MA 💙 Where the world comes for answers
@broadinstitute.org
A multidisciplinary community of researchers with the mission to better understand the roots of disease and narrow the gap between new biological insights and impact for patients. Broadinstitute.org
@ucsflibrary.bsky.social
The UCSF Library supports innovative health sciences research, teaching and learning at the University of California, San Francisco. library.ucsf.edu
@science.org
The world's leading outlet for cutting-edge research in all areas of science. https://www.science.org
@sciam.bsky.social
Awesome discoveries. Expert insights. Science that shapes the world.
@who.int
We (The World Health Organization) are the United Nations’ health agency championing Health For All. Always check the latest posts for updated advice/information. We will remove misinformation, spam and hate speech here. www.oneworldhealthforall.org
@nadavahituv.bsky.social
Professor, Department of Bioengineering and Therapeutic Sciences, Director, Institute for Human Genetics, UCSF
@curestxbp1.bsky.social
@lauren80.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@curesyngap1.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@bsky.app
official Bluesky account (check username👆) Bugs, feature requests, feedback: [email protected]