Svetlana Gorokhova
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
@worldmusclesociety.bsky.social
The World Muscle Society is a global, multidisciplinary community committed to advancing the science of neuromuscular disorders and the care for people living with them.
@cathyabbott.bsky.social
Professor, eEF1A2/neurological disorders. Mostly talks about research, EDI (tries hard to be a good ally) but sometimes veers off into crafts and photos of Scotland. She/her, views own.
@wbickmor.bsky.social
Scientist at University of Edinburgh. Director of MRC Human Genetics Unit but posting in my own capacity.
@lizworthey.bsky.social
#AssociateProf #CompBio #Omics #WomenInScience #LGBTQ+Ally #Scottish #PrecisionMedicine #HealthCare #MDx #ME/CFS #RareDisease #Informatics #SciFiNerd #LongCovidAffected sites.uab.edu/cgds/ she/her
@hdashnow.bsky.social
Asst. Prof, CU Biomedical Informatics. #RareDisease #Genomics #STRs #bioinformatics #WomenInSTEM. Parent. Aussie. she/her Views my own. https://dashnowlab.org/ Img by familydestinationsguide (CC-BY)
@jxchong.bsky.social
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
@cgonzagaj.bsky.social
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own. @cgonzagaj everywhere 🐦🦣☁️🧵
@jodieingles27.bsky.social
Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky
@rbeagrie.bsky.social
Group leader and Wellcome Sir Henry Dale Fellow based at the Centre for Human Genetics at Oxford University. Interested in genomics, single-cell technologies, 3D DNA folding and chromatin disruption in human disease. He/him.
@alextremophile.bsky.social
Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻 Loves Evolution, regulation, cheese and cats. She/Her
@hkilpinen.bsky.social
Assistant Professor in Genome Biology @HiLIFE_helsinki, @FIMM_UH, @UH_Neuro and @BioEnvHelsinki. Stem cells, single cells, genomics, and neurodevelopment.
@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
@philippamay.bsky.social
Consultant Clinical Scientist in Genomics. Talk to me about paediatric cancer, cardiovascular and respiratory disease, telomeres..... Veggie Londoner with a fondness for Ireland, halloumi, chocolate orange Twirls and wildlife. Easily startled.
@rachelbuc.bsky.social
Cardiovascular genetic scientist, crafter, mum. Passionate about opening up cardiovascular research to more people - @thehearthive.bsky.social. Has too many hobbies. London, UK
@jamesware.bsky.social
Clinician Scientist. Cardiovascular genetics, genomics in healthcare, inherited cardiac conditions, open science, patient participation. He/him. https://profiles.imperial.ac.uk/j.ware
@drjennylord.bsky.social
Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs.
@agoriely.bsky.social
Human genetics, rare disease and de novo variant detection | selfish selection | mosaicism | cell competition | paternal age effects | spermatogenesis | testis @University of Oxford @MRC- WIMM
@chundru.bsky.social
Postdoc University of Exeter 🇮🇪🇮🇳🇬🇧 Integrating 'omics data into rare variant genetic analyses Formerly at Sanger institute working on recessive developmental disorders in DDD
@emiliewigdor.bsky.social
Postdoc in neurogenetics | Sanders Lab at University of Oxford and IDRM | JRF at the Centre for Personalised Medicine
@htanudisastro.bsky.social
MD-PhD candidate at the University of Sydney & Garvan Institute. Studying tandem repeats in single-cell contexts w/ @dgmacarthur.bsky.social
@svergult.bsky.social
PI of the Functional Genomics lab (https://fungenlab-ugent.be/) at Ghent University. Elucidating the genetics of neurodevelopmental disorders. Special interest in the role of the non-coding genome during neurodevelopment.
@poseypod.bsky.social
Physician-scientist, Adult genetics, Human genetics research, Baylor College of Medicine. Thoughts expressed = my own.
@eedhaene.bsky.social
postdoc @ http://debaerelab.com @ https://fungenlab-ugent.be | 3D genome, gene regulation, structural variation | retina, neurodev, space!
@gc4gc.bsky.social
rare disease neurogeneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | here for the science, lab fun & occasionally my tiny hooman https://sites.northwestern.edu/carvilllab/
@smcgrath.phd
Biomedical Informatics PhD • CITRIS Health @UC Berkeley • FAMIA • Focusing on Informatics and AI in medicine • Missoula MT https://citris-uc.org/people/person/scott-mcgrath/
@hannahlong.bsky.social
Group Leader @mrc_hgu investigating gene regulation in development & human disease
@sebatlab.bsky.social
Psychiatric genetics, complex trait genetics, genome sequencing, rare variants are my jam
@jonnyfrazer.bsky.social
Probabilistic machine learning to address questions in evolution and health #EvolutionaryMedicine. PI at the Centre for Genomic Regulation, co-leading a group with Mafalda Dias. Previously Harvard.
@danrdanny.bsky.social
CODA. Dad. Interested in genetics, long-read sequencing, and ultramarathon running. Assistant Professor at University of Washington. The command line is my happy place. https://millerlaboratory.com
@rich-genomics.bsky.social
CEO @GenomicsEngland, Honorary Consultant and Associate Professor in Clinical Genetics @GOSH. Still just about a runner
@jorisveltman.bsky.social
Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
@polona.bsky.social
DVM PhD | Researcher at the University of Auckland | Genomics, variant interpretation | Rare diseases | Cancer, Molecular Tumour Boards | Inherited cardiac diseases | 🧬
@jacobvorstman.bsky.social
Professor of Psychiatry at The Hospital for Sick Children / University of Toronto. Editor in Chief of the Journal of Neurodevelopmental Disorders. Neurodevelopment, (Child) Psychiatry, Genetics, The Music of Life,
@ruebenadawes.bsky.social
Sydney girl, Fulbright recipient 2020-2021 with Monkol Lek. PhD Kids Research Sydney 2022, now postdoc with @nickywhiffin.bsky.social at BDI Oxford. Splicing & smORFs!
@inaklockner.bsky.social
Postdoc exploring new gene editing therapies for the neurodevelopmental disorder #AngelmanSyndrome at #UNCZylkaLab, also interested in post-transcriptional gene regulation via non-coding RNAs in neuromuscular disease |she/her|🇩🇪 🇺🇲
@profsimonfisher.bsky.social
Director of Language & Genetics at Max Planck Institute, Nijmegen. Tracing the complex connections between genes, brains, speech & language. Website: https://www.mpi.nl/people/fisher-simon-e ORCID: https://orcid.org/0000-0002-3132-1996
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@hheyne.bsky.social
Research group leader at Hasso Plattner Institute. Medical genomics, precision medicine, epilepsy.
@jonroberts.bsky.social
Research genetic counsellor. PhD in Science Communication. Researching equitable genomic testing & genetics of neurdevelopmental disorders. https://substack.com/@jonathanrob1985?utm_source=user-menu
@tatyanes.bsky.social
Genetic counsellor at Queensland Children’s Hospital and Research Fellow at Integrating Genomics into Medicine Group, The University of Queensland; she/her 🇦🇺🇧🇷 #genechat https://www.igmgenomics.com
@marion-mam.bsky.social
Clinical Geneticist in Toulouse 🧬 Passionate about rare diseases and skeletal disorders 🔥
@franziskaauer.bsky.social
Group Leader at Technical University Munich, Germany. Focus on 🧪 childhood cancer predisposition / leukemia / prevention / genetics / genomics 🧬