JWMDRC Patient Registries
Our neuromuscular research databases offer patients the chance to securely share their data and stories to support and access research.
https://linktr.ee/jwmdrcregistries
#UK #NMD #DM1 #DM2 #FSHD #SMA #Col6 #FKRP #MTM #CNM #Myotonic #MuscularDystrophy
@tgx-um.social.edu.nl.ap.brid.gy
We are the Department of Translational Genomics of Maastricht University. [bridged from https://social.edu.nl/@tgx_um on the fediverse by https://fed.brid.gy/ ]
@aetheriandreams.bsky.social
#ChildAdvocate #Teacher #Writer College Graduate, Pets, believer in justice and compassion for all. #Resist #Disabled #MuscularDystrophy #Inspire #Persevere
@ken-briggs.com
Writer on history, foreign affairs, and technology. Graduate student studying the geopolitics of the energy transition. Consultant and licensed engineer supporting energy startups. https://current-history.com/ buymeacoffee.com/currenthistory/
@neuropsi.bsky.social
Leading CNRS and Université Paris-Saclay research center dedicated to the study of the brain. Website: neuropsi.cnrs.fr LinkedIn: linkedin.com/company/institut-des-neurosciences-paris-saclay/ Youtube: youtube.com/@NeuroPSI-saclay
@carersworldwide.bsky.social
Unpaid family carers have little recognition & support in low-& middle-income countries. We're changing that. https://carersworldwide.org
@rarediseaseadvisor.bsky.social
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease. https://www.rarediseaseadvisor.com/
@raedeeton.bsky.social
You can't cherry-pick human rights. #IAmCanadian #ElbowsUp #CanadaSky #MapleMeidas No DMs
@ukwicsrobyng.bsky.social
I'm a full-time powerchair user, have Muscular Dystrophy, a mum and fiance, advocate for the disabled. I want to make a difference, in-between the tears, anger and frustration.
@jonu235.bsky.social
$SRPT #Duchenne #Elevidys #GeneTherapy data which STATnews, Fierce Biotech, BiopharmaDIVE, and BioCentury REFUSE to report! https://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-results-part-2-embark-study
@sanchabrodystalker.bsky.social
Communications Officer - Research, Motor Neurone Disease Association @mndassoc.bsky.social @mndresearch.bsky.social
@londonmito.bsky.social
Specialist centre for clinical care & research in mitochondrial diseases, The National Hospital for Neurology. Co-leads Profs @RobPitceathly.bsky.social & Mike Hanna ucl.ac.uk/centre-for-neuromuscular-diseases/patient-services/london-mitochondrial-centre
@mrcmitocluster.bsky.social
Research cluster working with @MRCHarwell.bsky.social as part of @MRCMouseNetwork.bsky.social studying mitochondria using #MouseModels nmgn.mrc.ukri.org
@nishimuy.bsky.social
Postdoctoral Research Associate in Muscle Proteomics at Liverpool John Moores University
@socialaf.bsky.social
We are the go-to agency for Facebook Challenge and Social Media Moderation for the third sector. We've supported household name charities to raise over £25 million through their campaigns, appeals and virtual challenges. 👉 https://www.socialaf.co.uk
@wheelywobbly.bsky.social
Wheels around and wobbles a lot. Telling it as it is, trying to survive the NHS as a disabled person.
@idrm.ox.ac.uk
The Institute of Developmental & Regenerative Medicine combines cardiovascular science, neuroscience and immunology to find new drugs and therapies.
@pathfindersnma.bsky.social
User-led organisation, campaigning for choice, control & quality of life for adults with #MuscularDystrophy and related conditions. We offer peer support & info www.pathfindersalliance.org.uk
@worldduchenne.bsky.social
Global organization to find a cure and viable treatment for those lives affected by dystrophinopathies: Duchenne and Becker Muscular Dystrophy. RT ≠ endorsement 🔗 https://www.worldduchenne.org/
@mikelizquierdo.bsky.social
Full Professor, Physical Activity, Exercise Physiology, Biomechanics, Aging, and Optimization of Neuromuscular Performance. Public University of Navarra (Spain)
@mitocamb.bsky.social
MitoCAMB brings together a team of clinical researchers focused on mitochondrial and neurodegenerative disease translational research. mitocamb.medschl.cam.ac.uk (Photo: Florian Klimm)
@carolinemjoyce.bsky.social
Principal Clinical Biochemist CUH Pregnancy Loss Research Group, INFANT, UCC Gestational Trophoblastic Disease, Genomics
@gensiren.bsky.social
Genetiker og nesten bergenser, uten overtro. 🧬⚽️🍷📚🇳🇴 Working on rare diseases in the 🧬 clinic and lab, geneticist 🩺 PhD Haukeland hospital Bergen 🇳🇴
@liedeweivdv.bsky.social
Genetics of Rare Neurological Diseases - currently a postdoc at the University of Miami through the Peripheral Nerve Society Laura Feltri Fellowship. Previously PhD @ University of Antwerp.
@juanmafercos.bsky.social
Scientists | Molecular biologist playing bioengineering to fight muscular dystrophies at IBEC 🦾🧬⚙️💊🏳️🌈
@davmaj.bsky.social
Owned by the family dog, cold water dipper, #cargobikeemoji, n+1 bikes #activetravel, pizza maker, point guard, RNLI and NSVL crew, still hoping for strictly tickets, Aussie in North East UK.
@a-correasanchez.bsky.social
Oligonucleotide development and translational science. 📌 Nucleic Acid Therapy Accelerator - NATA Views on my own. #PrideInSTEM 🏳️⚧️🏳️🌈 (He/Him)
@sgorokhova.bsky.social
Svetlana Gorokhova, M.D., Ph.D., is working in Marseille Medical Genetics (@univamu) and @aphm-chu-marseille in Marseille, France, remote member of NNDCS @NIH @NINDSnews
@doaa-salman.bsky.social
Medical professional with a passion for pediatric care | MBBCh 👩⚕️, Master's degree in Medical Genetics🧬 | Currently diving deep into clinical research at JWMDRC. Mom, Physician &Researcher 😁
@jose-verdu-diaz.bsky.social
Networks Engineer, Data Scientist and PhD student at the John Walton Muscular Dystrophy Research Centre (JWMDRC). Using AI and MRI to expand our understanding of Neuromuscular Diseases.
@ainaravallejo.bsky.social
Neuroscientist developing molecular therapies for neuromuscular and rare diseases 💪🫀🧠👁️🧪 @upvehu.bsky.social @biogipuzkoa.bsky.social ORCID: https://orcid.org/0000-0002-2409-8263 https://es.linkedin.com/in/ainara-vallejo-illarramendi-37441858
@onehealthgenomics.bsky.social
A community of University of Edinburgh researchers seeking genome knowledge for human, animal, plant and ecosystem health. onehealthgenomics.ed.ac.uk
@mstaylor.bsky.social
Professor at the University of Edinburgh scientist | mutagenesis | genome biology | selection | cancer
@avakhamseh.bsky.social
Group Leader and Lecturer (Asst. Prof.) in Biomedical AI at University of Edinburgh |Quantitative Biomedicine #causalinference #ML #AI - views are my own
@cgatist.bsky.social
Disease genomics & molecular mechanisms; ME/cfs: http://decodeme.org.uk, SequenceME @ Edinburgh University. Views - my own. He/him.
@geoffreymaher.bsky.social
Imperial College London Human Genetics | Gestational Trophoblastic Disease | Placenta | Germ Cells
@hgleitch.bsky.social
Scientist-clinician (https://profiles.ucl.ac.uk/88423-harry-leitch)
@ftuettelmann.bsky.social
Medical/Clinical/Human Geneticist with research focus on Reproduction/Infertility - Director of the Centre of Medical Genetics, University/University Hospital Münster - https://ukm.de/genetik & https://reprogenetik.de
@uoe-igc.bsky.social
Our mission is to improve the lives of people living with genetic disease and cancer through research.
@gosiatrynka.bsky.social
Science Director of OpenTargets and Group Leader at Wellcome Sanger Institute Genetics, immunology, drug discovery Outdoors, cats, dogs and all animals Views are my own
@allanpacey.bsky.social
Deputy Vice President and Deputy Dean of Biology, Medicine and Health, University of Manchester. Views all my own
@bioinfomatt.bsky.social
Director, Clinical Bioinformatics Software at Oxford Nanopore in the EPI2ME team. Interested in regulated application of Nanopore sequencing. Also bikes, beers, trains, and the American Office.
@sinamajidian.bsky.social
On the academic job market | How are species compared to one another across different genomic regions? Postdoc at Langmead Lab, Johns Hopkins | Comparative #genomics | Phylogeny and indexing at scale | Formerly at UNIL/SIB/WUR | sinamajidian.github.io
@joepdel.bsky.social
Lead data @HartwigMedicalFoundation, Amsterdam, Netherlands. Honorary fellow @OtagoUniversity. Active in the field of Bioinformatics and Genetics with a focus on human diseases. Lover of nature and (book) nerd. he/him https://orcid.org/0000-0002-0348-419X