@ajhgnews.bsky.social latest article presents work from the Solve-RD Consortium that shows how integrated mtDNA analyses improve rare disease diagnostics, even when mitochondrial disorders are not suspected: www.cell.com/ajhg/fulltex... #ASHG @ritahorvath.bsky.social #GeneticsDiscoveries
07.05.2025 19:57 — 👍 0 🔁 2 💬 0 📌 0
Exploring brain cell biology, organelle dynamics & proteostasis.
📍University of Cambridge @cambridge-uni.bsky.social | @UKDRI | 🔬developing live cell biosensing tech
We want a world where dementia no longer devastates lives. That’s why we give help to everyone living with dementia today, and hope for the future. Find us at https://www.alzheimers.org.uk/
Professor of Respiratory Science University of Cambridge. Lung doctor. Fellow St Catharine’s College. Cell biology. Pleural medicine. Rare disease. Genetics.
Lab webpage = https://www.cimr.cam.ac.uk/staff/professor-stefan-marciniak
Powering research to find new ways of detecting and treating #dementia. Providing infrastructure to enable research at scale and pace. Funded by #MedicalResearchCouncil. Based at Oxford University with teams at universities across the UK and in industry.
Research institute based at the University of Cambridge specialising in diabetes, obesity and related endocrine and metabolic disorders.
The NIHR Newcastle Biomedical Research Centre (BRC) works to transform lives through world-leading research in ageing and multiple long-term conditions (MLTC).
Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
Assistant Prof at D-BSSE, ETH Zurich, studying genetics of psychiatric disorders
www.nacailab.com
MBE; Professor at University of Cambridge, Wolfson College, food intake & #obesity; Broadcaster; Author, #WhyCaloriesDontCount out now; on Instagram & Threads @gilesyeo
The professional network for those managing, supporting & leading health & care research.
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Edinburgh
11-12 September 2025
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Highlighting the work and contributions of
@MRC_MBU postdocs. Views are our own.
https://www.mrc-mbu.cam.ac.uk/mbu-postdoctoral-society
RDI is the global alliance for persons living with a rare disease, across all countries and all rare conditions.
https://TheRDDR.org
RDDR is an invaluable resource dedicated to the storage, organization, and dissemination of rare disease research datasets.
We are an @nihr.bsky.social Biomedical Research Centre partnership between Moorfields Eye Hospital and @ucleye.bsky.social.
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An @nihr.bsky.social partnership between @cuh.nhs.uk and the University of Cambridge @cam.ac.uk We research different diseases to find new treatments & medicines. Based at CUH & Cambridge Biomedical Campus https://cambridgebrc.nihr.ac.uk
National Institute for Health and Care Research - we fund, enable and deliver world-leading health and social care research that improves people's health and wellbeing, and promotes economic growth.
Impact, Innovation, Investment, Inclusion
We run the world-leading hospitals Addenbrooke’s and The Rosie.
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Part of Wellcome Sanger Institute and funded by Wellcome, we develop and deliver genomics-focused learning and training. Our events support scientific careers, as well as the equitable application of genomics into research and healthcare across the globe.
