Rare Diseases
Rare disease researchers, reporters, and community leaders who post on.... rare diseases! #raredisease #rarediseases #rareasone
Created by
@cispt2.bsky.social
@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.
@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
@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
@maryoverfield.bsky.social
Rare disease advocate Long-suffering 7️⃣6️⃣ers fan Rochester, NY
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@rarebydesign.bsky.social
Grassroots nonprofit creating awareness of inclusion, representation and living life positively for #PWD and #RareDiseases along with their families. Founded by @Kegottsleben.bsky.social.
@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|🇩🇪 🇺🇲
@cnsdrughunter.bsky.social
🧠 🧬 Neuroscientist. Looking for new medicines for #CDKL5, #SCN1A, #SHANK3, #DHPS and other neurological #RareDiseases with #epilepsy
@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
@rdndlab.bsky.social
RDND Lab at King’s College London led by Cristina Dias. Clinical Geneticist and Rare Disease researcher. Rare Conditions, neurodevelopmental disorders of chromatin regulation and chromatin remodeller-TF interactions. https://tinyurl.com/rdndkcl
@rarediseasepatient.bsky.social
#RareDisease patient, missing life: Polymath, classical musician, linguist, UNI instructor, minister, metaphysicist, intuitive, naturalist, #vegan ARA
@rarediseasemom.bsky.social
Lindsay. Democratic nominee for VA House of Delegates district 69 (I had to resign from running sadly due to unexpected health emergency) Super focused on my local community ( Hampton Roads ) and rare disease advocacy.
@adamfeuerstein.bsky.social
Reporter at STAT. The Harry Kane of biotech. Dog ❤️er. Polk Award winner. Said one analyst: The likes of Adam Feuerstein attack viciously.
@juanbonifacino.bsky.social
Cell biologist at NIH researching mechanisms of protein and organelle transport, and related diseases. Special interest in neurons and neurodevelopmental disorders. Passionate about science, nature, travel, and music. Views are my own.
@cispt2.bsky.social
🇦🇺 all about treatments for rare diseases, drug discovery and technologies. Views my own. Etc.