The Rare Disease Data Repository
https://TheRDDR.org
RDDR is an invaluable resource dedicated to the storage, organization, and dissemination of rare disease research datasets.
@ideberitlange.bsky.social
Infectious Disease Epidemiologist & Medical Doctor with the Department of Epidemiology at HZI, https://helmholtz-hzi.de/epidemiologie; President of the German Society for Epidemiology, https://www.dgepi.de/
@anne-marie-russell.bsky.social
Academic & clinician in #ILD taking a person-centred approach. Support women in academia. Love a sunset!
@neckellab.bsky.social
Research group studying enteric neuroscience, neurogastroenterology, and anatomy
@daretoberare.bsky.social
Our mission: CURE THIS All sales from Dare to be Rare go directly to funding research for the cause you choose at checkout. To shop, learn more, or become a partner, check out daretoberare.org
@dgnm.bsky.social
The German Society for Neurogastroenterology & Motility is a scientific society dedicated to advancing research and knowledge in the fields of neurogastroenterology and gastrointestinal motility. #neurogastro
@arrefoundation.bsky.social
Supporting research for ASXL-related disorders: Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes
@agustinafernandez.bsky.social
Rare Mom. IP Lawyer. #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3
@sicklecellchoices.bsky.social
CHOICES provides, before conception, the needed health information to individuals affected by sickle cell disease or carrying the sickle cell trait. Our hope is that CHOICES will assist people to make make informed parenting plan choices.
@annetkiraboc1.bsky.social
Associate Professor @VUMC #Hypertension, #kidney, #immunology #HostMicrobiotaInteraction. Mother of 2, wife. Associate Editor @CircRes
@bart-jan.bsky.social
Ataxia researcher and advocate. My interests range from Friedreich Ataxia to VPS13D
@nssd-sunnaas.bsky.social
NSSD Sunnaas works to research, gather and disseminate knowledge about rare disorders such as congenital skeletal- and connective tissue disorders, spina bifida and limb deficiency.
@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
@albertvilella.bsky.social
Bioinformatics Scientist / Next Generation Sequencing, Single Cell and Spatial Biology, Next Generation Proteomics, Liquid Biopsy, SynBio, Compute Acceleration in biotech // http://albertvilella.substack.com
@rasnet.bsky.social
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh
@maddiegillentine.bsky.social
Geneticist | Research Director @ HNRNP Family Foundation Interested in all things rare disease. BA from Kalamazoo College | PhD from Baylor College of Medicine. Postdoc at UW |Former variant scientist.
@garchanjo.com
Co-founder at @BotCity (YC W22) OSS Maintainer at MarvinJ and Marvin Computer Scientist, AI, Open Source
@abcmd2010.bsky.social
Child Neurologist, UVA Child Neurology Residency Program Director, UVA Director of COACH, Medical Education & Neurofibromatosis Enthusiast. Mama of 2 sweet and wild boys.
@annaesteveco.bsky.social
Functional Genomics Team Leader @CNAG 🧬💻🔎 omics, rare diseases, single-cell, long-reads, transposons.
@jchrispires.bsky.social
Professor passionate about student success & team science #firstgen #Brassica enthusiast walking Dogs of the Plant World #Agriculture #Food #HigherEd #EduSky #Agsky #SciComm & more #Soil #Crop #Science ; opinions mine
@docworldexplore.bsky.social
In-depth, independent reporting to better understand the world, now on Bluesky. News tips?
@muffley.bsky.social
Director of Program Operations (Variant Effects Portfolio) CMAP, CAVA and the Atlas of Variant Effects Alliance | she/her 🏳️🌈 https://fowlerlab.gs.washington.edu/people https://brotmanbaty.org/research/atlas-of-variant-effects
@theindpanel.bsky.social
The Independent Panel, with Co-Chairs @HelenClarkNZ and HE Ellen Johnson Sirleaf, continue to work towards a world where a pandemic as devastating as COVID-19 never occurs again. www.TheIndependentPanel.org
@sarahbrodsky.bsky.social
Freelancer writing about personal finance and business. Interested in science, math, books, cooking, languages. St. Louis, MO #pwME
@theguardian.com
The need for independent journalism has never been greater. Become a Guardian supporter https://support.theguardian.com 🇺🇸 Guardian US https://bsky.app/profile/us.theguardian.com 🇦🇺 Guardian Australia https://bsky.app/profile/australia.theguardian.com
@thedesk.net
Interesting stories that won’t waste your time. The Desk covers the business of media (broadcasting, streaming) and tech. Posts by @matthewkeys.net, and probably others, too. Read our stuff: https://thedesk.net Send us tips/pitches: news@thedesk.net
@channel4news.bsky.social
Stories that reveal and inspire, challenging expectations. Weekdays 7-8pm on Channel 4. Got a story? C4Nstories@itn.co.uk --- website: www.channel4.com/news youtube: www.youtube.com/@Channel4News
@nytimes.com
In-depth, independent reporting to better understand the world, now on Bluesky. News tips? Share them here: http://nyti.ms/2FVHq9v
@techcrunch.com
Technology news and analysis with a focus on founders and startup teams. Got a tip? http://techcrunch.com/tips
@matthewkeys.net
I'm a journalist who covers the intersection of business, media and technology. Sacramento = home. 📧 matthew@matthewkeys.net 🌐 https://matthewkeys.net 📰 @thedesk.net
@dr-dcn.bsky.social
Movement disorder neurologist in Iowa. Opinions are mine alone. Prior position was at Geisinger Health System.
@htchaolab.bsky.social
Neuroscientist+Child Neurologist. McNair Scholar #RareDisease, #neurogenetics, inhibition/circuits, #autism, #epilepsy, & brain disorders. RT≠endorse.
@betsypilon.bsky.social
Working to improve outcomes for neonatal & pediatric-acquired hypoxic brain injury. Powered by hope and coffee. Current advocacy spice level: 🌶️🌶️🌶️🌶️/🌶️🌶️🌶️🌶️🌶️ #HopeforHIE #NeoSky #NeuroSky #PatientAdvocacy
@fjvrmrtn.bsky.social
Professor of Biochemistry and Molecular Biology |📍Universidad de Extremadura, Spain | Ca2+ signaling, cytoskeleton, DNA damage repair. https://cellsignalinggroup.wixsite.com/cellsignalinggroup
@rahema-ucl.bsky.social
The Neurogenetics Lab at UCL ION. Interested in Neurogenetics, Public Engagement, Science Communication & Innovation
@gnb5-ndd.bsky.social
GNB5-NDD (GNB5-Related Neurodevelopmental Disorders) include IDDCA and LADCI, genetic conditions caused by having two mutant GNB5 genes. #RareDiseases IDDCA_GNB5 https://facebook.com/groups/iddca/
@thekattdazzle.bsky.social
My curse **is** my gift. hEDS+PoTS Intellectual curiosity = my problem. Opinions = MINE. Retweet ≠ endorsements or represent #Dazzle4Rare https://linktr.ee/dazzle4rare
@mcai.bsky.social
Assistant Professor @ U Miami in cognitive computational neuroscience, interested in spontaneous thoughts, learning and decision making, brain imaging and infant-inspired AI | https://cailab-miami.org
@onein300.bsky.social
1/300 is the lifetime risk of developing #ALS #MND. My living with Motor Neurone Disease blog. onein300.com
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@katihoier.bsky.social
nothing is for free; don't give up; rosa Brille auf und durch; Sarc Warrior - in pain 24/7 -Selbsthilfe- Geradeausdenker
@sarkoidosesh.bsky.social
Sarkoidose Selbsthilfe, Schleswig-Holstein, selten, orphan disease, sarcoidosis Wollen Verbindungen schaffen. http://sarkoidose-selbsthilfe.eu
@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.