Our paper in Nature Medicine is out today! Great working with @drmfarag.bsky.social & the YAS team (researchers and participants) to identify biomarkers that pave the way for preventative trials in Huntington's Disease. Thanks to @wellcometrust.bsky.social and CHDI for funding. tinyurl.com/3fde9mth
17.01.2025 15:31 — 👍 24 🔁 10 💬 1 📌 0
Come and join the lab! we have a position available to work on the analysis of short and long-read DNA and RNA sequencing from patients with repeat expansion diseases
jobs.ac.uk/job/DLG312/bio…
06.01.2025 11:35 — 👍 5 🔁 3 💬 0 📌 1
Huntington’s disease research news. In plain language. Written by scientists. hdbuzz.net
Editors - @sjh508 @rjharding
We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
A large-scale biomedical database and research resource, that can be accessed globally by approved researchers, to enable scientific discoveries.
🔗 https://www.ukbiobank.ac.uk/
Head of CompBio at PacBio interested in rare disease, variant calling, population genetics and more. Opinions/views are my own and do not reflect the views of my employer.
Bioinformatics scientist at PacBio. Opinions are my own.
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
decided to defect from the other one. Professor of neurology and neurogenetics. Science and maybe politics. Strictly personal opinions obviously
UCL Queen Square Institute of Neurology | Neurologist| Neuroscientist | Rare Diseases | Neurogenetics | Atypical Parkinsonism | Clinical Trials
Asst. Professor, Baylor College of Medicine. Previously Stanford and UW–Madison. We use molecules and genomes to understand repetitive DNA sequences. #FirstGenAcademic ErwinLab.org
Bioinformatician working on tandem repeats
MD-PhD candidate at the University of Sydney & Garvan Institute.
Studying tandem repeats in single-cell contexts w/ @dgmacarthur.bsky.social
The next-generation life sciences institute advancing human health through basic research and collaboration. Based in Palazzo Italia, Milan.
Scientist studying molecular links between Alzheimer's, Ageing, microglia & diet @UCL @UKDRI @ARUKnews #Dementia Trained @BabrahamInst @Cambridge_uni @Stanford
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
UCL Queen Square Institute of Neurology and The Francis Crick Institute. RNA metabolism and novel translational approaches for ALS/MND, Kennedy's disease and neurodegen.
Prof of Molecular Neuroscience
UCL Queen Square Institute of Neurology
Alzheimer’s disease & stem cell models
Barnsley lass
Queen Square Neurologist, Huntington’s disease researcher, Associate Director UCL HD Centre, co-founder HDBuzz
The world's largest patient organization focused solely on #myotonicDystrophy. Our mission is Community, Care, and a Cure.
www.myotonic.org
