Unique @uniquecharity.bsky.social Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
Sarah Wynn @sarahlwynn.bsky.social CEO Unique (Rare Chromosome & Gene Disorders) 🧬
The EMBO Journal @embojournal.org Non-for-profit publication of research in molecular, cell & organismal biology - as part of @embopress.org
Fast-fair-transparent / Open Access / Open Science
Miranda Durkie @mirandadurkie.bsky.social Consultant Clinical Scientist in Genomics & Rare Disease Lead for NHS North East Yorkshire GLH. ACGS & CanVIG variant classification & HBOC best practice guidelines author.
http://linkedin.com/in/miranda-durkie
@thorburnmito.bsky.social @thorburnmito.bsky.social 
Exeter Rare Disease @rdexeter.bsky.social Prof Emma Baple and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases
https://wohproject.com/
David Stroud @dstroudlab.bsky.social Functional Genomics | Clinical Proteomics | Rare Disease
Daniella Hock @daniellahock.bsky.social Senior Researcher at the University of Melbourne, Australia | Closing the diagnostic gap for rare diseases with rapid proteomics
Academy of Medical Sciences @acmedsci.bsky.social The Academy of Medical Sciences makes medical science work for everyone. Our vision is good health for all, supported by the best research and evidence.
Visit www.acmedsci.ac.uk for more info.
MRC MBU @mrc-mbu.bsky.social Research at the MRC Mitochondrial Biology Unit is focussed on the involvement of mitochondria and their dysfunction in an ever-increasing range of human disease
Nils-Göran Larsson @nils-goranlarsson.bsky.social Mitochondria, mtDNA, mitochondrial disease, ageing
Dr Ali Compton-Stubbs @mitochondrially.bsky.social Scientist into mitochondrial disease genetics, raising my two daughters, training PhDs and enjoying my married life. Opinions are my own. She/her
Jordan Crameri @jcrameri.bsky.social Postdoctoral Research Fellow in the Kittler Lab at UCL, London | Mitochondrial neurobiology
Christian Frezza @frezzalab.bsky.social I post papers on #cancermetabolism and #mitochondrialbiology. I also post about academia, metal music, and mindfulness.
https://www.cecad.uni-koeln.de/research/principal-investigators/prof-dr-christian-frezza/
https://orcid.org/0000-0002-3293-7397
MitoCancer Lab @mitocancerlab.bsky.social Mitochondrial genetics lab focussed on mtDNA mutations in cancer. PI Prof Laura Greaves
Dr Maria O'Hanlon @abioblog.bsky.social 🔬 Mitochondrial Disease Research Manager
✍️ Scientific Writer
🎙️ Sci-Comm Enthusiast
🌿 Dog Mama & Amateur Gardener
Mike Murphy @mitoredox.bsky.social Our lab is interested in all things mitochondrial.
@chunchen-mitopd.bsky.social @chunchen-mitopd.bsky.social 
@dwong47.bsky.social @dwong47.bsky.social 
Lucía Luengo-Gutiérrez @lucialugut.bsky.social 🧬 Biotech @usal | 🧠 Neuroscience @Imperial | Currently on my PhD journey @ Mitochondrial Biology Unit, Cambridge ⚡️🔋
Gavin Hudson @drperscitus.bsky.social Professor or Mitochondrial Genomics.
Geneticist and Stats aficionado. Beleaguered Dad and veteran of the Fortnite Conflict of 2024.
@annbowron.bsky.social @annbowron.bsky.social 
Alberto Sanz @albertosanzmon1.bsky.social A scientist researching aging. Passionate about unlocking all forms of knowledge. Championing technology as a catalyst for human progress.
Journal of Inherited Metabolic Disease @jimd-editors.bsky.social The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM).
Social Media maintained by James Nurse
ICGNMD @icgnmd.bsky.social We are the International Centre for Genomic Medicine in Neuromuscular Diseases, we aim to grow knowledge about the global causes of inherited neuromuscular diseases and promote inclusion in research. Welcome!
@ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social 
Tatjana Kleele @tatjanakleele.bsky.social 
Teodora Barbarii @teodorabarbarii.bsky.social Medical geneticist studying rare neurodevelopmental and neurogenetic disorders. PhD student at University of Manchester
Wendy Jones @wendydjones.bsky.social UK Doctor specialising in Clinical Genetics and Genomics. Researcher investigating Wiedemann-Steiner syndrome, chromatin disorders and genetics of orofacial clefting. All views are my own.
Harry Leitch @hgleitch.bsky.social Scientist-clinician
(https://profiles.ucl.ac.uk/88423-harry-leitch)
Tata Kavlashvili @tatakavlashvili.bsky.social @DamonRunyon.org Timmerman Traverse Fellow www.sfeirlab.com MSK • PhD in Dewar lab @vanderbilt.edu • from Tbilisi, Georgia 🇬🇪 basic scientist fascinated by mtDNA+🏔️⛷️🎭🗽NYC📍
Wyatt Yue @wyattyue.bsky.social Professor of #structuralbiology at Newcastle University.
Heart says x-ray but mind starts to say EM.
#Drugdiscovery in #rarediseases, esp Inborn errors of metabolism
Yue Lab: https://www.staff.ncl.ac.uk/yuelab/
Angela Topping @angelatopping.bsky.social MSc Qualified Coach & Mentor. Passionate about Social Justice, People & Disruptive Engagement. Lover of the outdoors. Hater of abuse of power.
Q Member. Samaritan. Ally.
Brain Communications @braincomms.bsky.social Open Access sister journal to Brain. 🧠🧠🧠
Proceeds go to Guarantors of Brain Charity to support the translational neuroscience community.
Join our community of authors, reviewers, prize winners!
UCL Faculty of Brain Sciences @uclbrainscience.bsky.social We are a global leader in research and education into the mind and brain.
www.ucl.ac.uk/brain-sciences
Joseph Bateman @batemanlab.bsky.social Professor of Molecular Neuroscience at King's College London. Studying the molecular basis of neurological disease. All things mitochondria and mTOR.
Hauke Hillen @haukehillen.bsky.social Professor at the University Medical Center Göttingen & Group Leader at the MPI for Multidisciplinary Sciences
Structural biology of gene expression
https://hillenlab.uni-goettingen.de
David Ashbrook @davidashbrook.bsky.social Baszucki Foundation Chancellor’s Fellow edwebprofiles.ed.ac.uk/profile/david-ashbrook
Associate Prof in Genetics, Genomics, and Informatics @UTHSC
Genomes, environments, their interactions, behaviour, and disease.
PhD Manchester 🇬🇧 Postdoc Toronto 🇨🇦
Kellie Horan @kellie-horan.bsky.social Regenerative Medicine PhD, University of Edinburgh 🏴🇮🇪 | mitochondria in neurodegeneration & MS @annawilliamslab 🧠| microscopy, transcriptomics & spatial👩🔬 | UCD Genetics ‘22 🧬 | she/her
Jack Leslie @jleslie1.bsky.social Lecturer in Cancer Immunology at Newcastle University
Matthew Jessulat @matthewjessulat.bsky.social Canadian molecular biologist, Research Associate at the University of Regina. Studies systems biology and mitochondrial protein networks using model organisms and IPSCs. Fan of red wine, black coffee, good food and bad movies. He/him.
Luke Formosa @drlukeyform.bsky.social Lab Head @Monash BDI ~ NHMRC Emerging Leader Fellow ~ Mitochondrial researcher 👨🔬 ~ working out how mitochondria build their machines 🏗 💡🏳️🌈
https://www.monash.edu/discovery-institute/formosa-lab
Helen Briggs @hbriggsjourno.bsky.social Journalist & broadcaster @BBCNews|Biodiversity, nature, science, health on 📺📻✍️|Escaped scientist|Alum @uniofnewcastle; @risj_oxford; @McrwritingSchl
Gaurav Varshney @varshneylab.bsky.social Assoc. Prof. Interested in CRISPR, Zebrafish, Disease Modeling, Rare Diseases, and Neurodevelopmental Disorders. The opinions expressed here are my own.
Gavin McStay @gavinmcstay.bsky.social I study mitochondria and love doing science outreach. I direct biomed news, a platform to help find the latest biomedical research using machine learning. Senior lecturer at Liverpool John Moores University
Oxford-Harrington Rare Disease Centre @oxfordharrington.bsky.social Partnership of the University of Oxford and Harrington Discovery Institute. Combining expertise in discovery science and therapeutics development to accelerate cures for rare diseases.
Visit us at: www.oxfordharrington.org
The Neurogenetics Lab ION @qs-neurogenetics.bsky.social The Neurogenetics lab at UCL ION led by Professor Henry Houlden is dedicated to discovering new genes and disease mechanisms linked to neurological disorders. Neurogenetics.co.uk
Stirling Churchman @stirlingchurchman.bsky.social Genetics professor at Harvard Medical School. Interested in RNA life cycles and genome organization across the cell, from the nucleus to mitochondria. 
Genetics in Medicine @gimjournal.bsky.social Genetics in Medicine, an official journal of @theacmg.bsky.social
Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
Human Genetics and Genomics Advances @hggadvances.bsky.social ASHG's Open Access journal
https://www.cell.com/hgg-advances/home
Nicky Whiffin @nickywhiffin.bsky.social Associate Professor @ Big Data Institute, University of Oxford
2024 Lister Institute Fellow
genomics | rare disease | gene regulation | genetic therapies
https://rarediseasegenomics.org/
(field) hockey player | cyclist | hiker
Nicole Lake @nicolelake.bsky.social Enthusiastic about human & mitochondrial genomics 🧬 Assistant Professor @YaleGenetics. She/her.
Kartik Chundru @chundru.bsky.social Postdoc at University of Exeter 🇮🇪🇮🇳🇬🇧 Statistical/Computational analyses using any NGS-based data
Formerly at Sanger institute working on recessive developmental disorders in DDD
Matthew Wheeler 🦋 @mwheelermd.bsky.social Physician-scientist @stanford medicine, AHFTC, genomics of rare disease, cardiovascular genetics, exercise multiomics, cardiomyopathy, novel therapeutics and data. #motrpac #UDN #Gregor #CFDE . Husband, kids and cats, mountains and snow. Resist hate.
Aleksandra Filipovska @filipovskalab.bsky.social 
NHS East Genomics @eastgenomics.bsky.social High quality genomic medicine for cancer and rare condition patients in the East Midlands and East of England. We are the East Genomic Laboratory Hub (GLH) + the East Genomic Medicine Service Alliance (GMSA) http://linktr.ee/east_genomics
medRxivpreprint @medrxivpreprint.bsky.social 
@clare-turnbull.bsky.social @clare-turnbull.bsky.social 
Ben Carter @bensaint.bsky.social Global CCMO at Carwow, Chair of The Lily Foundation Women In Football Director, #saintsfc STH, Football nut, 2 kids, 3 dogs, regular runner for Mito,
Lis Lowe @lislowe.bsky.social Scientist, mum, wife. Fan of gut bacteria, mycobacteria, glycans and cazymes. Mannose evangelist. Lowe Lab, NUBI, Newcastle University
Adam Rutherford @adamrutherford.bsky.social I had a marvellous time ruining everything.
Professor of Genetics @UCL, Public Humanities Fellow @SAS. Ex-President of @Humanists_UK Genetics, race, eugenics, books, cricket, +–=÷×
@kbjmanagement
adamrutherford.com
Molecular Cell @cp-molcell.bsky.social Molecular Cell is a Cell Press journal that aims to publish the best papers in molecular biology.
Cell Reports @cp-cellreports.bsky.social Cell Reports, published by Cell Press, is a weekly open-access journal that publishes high-quality papers across the entire life sciences spectrum.
Walter W. Chen, MD, PhD @walterwchen.bsky.social Neonatologist + incoming Asst Prof in Mol Bio at UTSW via Harvard/MIT MD-PhD, Harvard Pediatric Residency, UTSW Neonatology Fellowship, Postdoc in RJD Lab | STAT Wunderkind, ASCI E-Gen Award, BWF CAMS
Studying #metabolism, #mitochondria, #peroxisomes
Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social Rare & neuromuscular disease researcher at UWA & the Harry Perkins Institute, Perth 🇦🇺
Passionate about #sciencefunding, #womeninSTEM, #EMCRs
Mum of 👦👧🐶
Posting about genomics, rare disease, PI life & wine
https://www.ravenscroftlab.com
Katsu Funai @katsufunai.bsky.social Japanese scientist, dad of five boys, Daft Punk & Chelsea | Funai Lab @ Utah | 船井 勝彦 https://funai.u2m2.utah.edu/
Soni Deshwal @sonideshwal.bsky.social ERC Starting grant, Group leader at Helmholtz-Munich, interested in Mitochondria, metabolism, ferroptosis and lipids. Postdoc at Max-Planck Aging, Cologne and PhD Uni Padova-Italy
Loves traveling and food ♥️
Christian Gilissen @christiangilissen.bsky.social 
Eddie Rashan @edreesrashan.bsky.social Biochemist. Postdoc in the Vander Heiden Lab at MIT | Shurl and Kay Curci Fellow of the LSRF | Twitter: https://x.com/EdreesRashan | ORCID: https://orcid.org/0000-0002-3882-6655
Reza Maroofian @reza-maroofian.bsky.social Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
Caroline Fecher @fecherc.bsky.social Postdoc in the Pagliarini lab | @ WashU Medicine | LMU & TUM alumna
Studying mitochondria in the CNS using imaging and mass spectrometry techniques
Kasia Pirog @kasiapirog.bsky.social Geneticist, cartilage biologist, mountaineer. Senior Lecturer at Newcastle University. All views my own. blogs.ncl.ac.uk/piroglab
Tom Wright @tomwrightuom.bsky.social 👨⚕️ UK Clinical Genetics SpR/Resident (OOPR)
🧬 PhD Researcher @fbmh-uom.bsky.social #RareConditions #Genomics #MentalHealth #DataScience @mft-imrare.bsky.social
💗 Proud Husband/Dad/Son/Sib + 🎭🎨🎾⚽️
Caroline Wright @carolinefwright.bsky.social Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast. 
Mike Weedon @mnweedon.bsky.social 
Shane McKee @shaneir.bsky.social Genetics/Genomics doc, Nazareth Hospital biker, developing solutions for #RareDisease & Digital Healthcare on a #Psion Series 3a. Want to see peace in Northern Ireland, Israel-Palestine & Planet Earth. One of those Happy Lundys. https://shanemuk.github.io
Keavney Lab @keavneylab.bsky.social Lab group led by Prof Bernard Keavney focussing on cardiovascular genomics, big data & congenital heart disease in the @uom-bhfcre.bsky.social 🫀🧬
Posts by group members
🌐 https://www.keavneylab.com
📍 Manchester, UK
Daniel MacArthur @dgmacarthur.bsky.social Genomics, big data, open science, diversity. Director of the Centre for Population Genomics, focused on building a more equitable future for genomic medicine. Opinions my own.
Xilma Ortiz-Gonzalez MD PhD @drxilma.bsky.social Boricua 🇵🇷 physician neuroscientist; Mom,
Peds Neurogenetics 🧠🧬 @CHOP/UPenn, mitochondriac, my lab works on mechanisms of pediatric neurodegeneration
#raredisease #TBCK
https://www.med.upenn.edu/oglab/
opinion = my own
Zornitza Stark @zornitza.bsky.social Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
European Society of Human Genetics @eshg.bsky.social The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
NHS England @england.nhs.uk 
North West Genomics Laboratory Hub @nwglh.bsky.social News and updates from the GLH for the North West led by @MFT_nhs, working together with @nwgmsa @LiverpoolWomens, @NWCGMC and @lplclinlabs.#NHS #Genomics
The American Journal of Human Genetics @ajhgnews.bsky.social Flagship journal of the American Society of Human Genetics
https://www.cell.com/AJHG/home
Editor-in-Chief: @kiranmusunuru.bsky.social
NIHR Biomedical Research Centre (BRC): Newcastle @nihrnewcastlebrc.bsky.social The NIHR Biomedical Research Centre (BRC): Newcastle works to transform lives through world-leading research in ageing and multiple long-term conditions (MLTC).
DrAndyFrey @drandyfrey.bsky.social Electric biomancer: Microbiologist turned mass spectrometrist with a hefty emphasis on all things proteomics!
Newcastle University @newcastleuni.bsky.social Official page for Newcastle University UK, a founding member of the Russell Group of Research intensive universities, and a Global Top 140 university. #WeAreNCL
Neil Rajan @derm-scientist.bsky.social Professor of Dermatogenetics + Consultant Dermatologist #genetics #raredisease #dermatology Views are mine; he/him/his
Wellcome Connecting Science Learning and Training @eventswcs.bsky.social 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. 
Joris Veltman @jorisveltman.bsky.social Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
Linda Lako @lindalako.bsky.social Stem cell biologist, passionate about treating eye disease
Official Manchester Rare Conditions Centre account. @mft-imrare.bsky.social The MRCC aims to improve the lives of people with rare conditions, across all ages, by providing a platform for the coordination of clinical care. research, education and engagement. Website: https://www.mrcc.org.uk/ 
Aurora Gomez-Duran @auroradevea.bsky.social mtDNA geek Mito-Nuclear Crosstalk. mtDNA variants. MitoPhenomics Lab
@cimusus. #mitoWomen and #WomeninScience. auroragomezdu@gmail.com
David Pla Martin @dplamartin.bsky.social Professor @hhu_de Mitochondrial Biology 🧬 | Institute of Biochemistry and Molecular Biology I | mitochondria, mtDNA and mitophagy http://bit.ly/bumb1
Hana Antonicka @hantonicka.bsky.social Senior researcher in the Department of Human Genetics at McGill University in Montreal. Interested in mitochondrial biology.
Selina Wray @selinawray.bsky.social Prof of Molecular Neuroscience
UCL Queen Square Institute of Neurology
Alzheimer’s disease & stem cell models
Barnsley lass
Catalina Vasilescu, PhD @cvasilescu.bsky.social Biomedical researcher studying mitochondrial disorders. PhD from Anu Suomalainen lab, Helsinki. Postdoc at Prokisch lab, Munich.
Alessandro Prigione @aleprigio.bsky.social Stem Cell Metabolism lab. We use iPSCs and brain organoids to search for cures for rare mitochondrial neurological diseases. Professor at the Medical Faculty of Heinrich Heine University, Düsseldorf. Editor-in-Chief of Stem Cell Research journal. He/him.
Sofia Ahola @sofiaahola.bsky.social Assistant Professor at Uni Birmingham, 🇬🇧 working on mitochondrial diseases, stress signalling, metabolism and ferroptosis.
Hobby science artist 🎨
http://www.sofiaahola.com
PhD 🇫🇮 @helsinkiuni | Postdoc 🇩🇪 @mpiage @cecad
LabPrudent @prudentlab.bsky.social Mitochondrial Dynamics group at Imagine Institue. We study Mitochondrial membrane remodelling, mtDNA dynamics and Membrane Contact Sites. All tweets are from Julien.