Advancing prevention, diagnosis and treatment research for the 30 million people living with a rare disease in Europe.
🔗 erdera.org
Co-funded by European Union's #HorizonEU Research & Innovation programme. Views expressed are of authors only.
Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care
Discover the Languages of Biology
Build computational models to (help) solve biology? Join us! https://www.deboramarkslab.com
DM or mail me!
Professor, Geneticist, Human Evolutionary Biologist, Wife, Mom
Posts reflect my own personal views and not any of the organizations I am affiliated with.
Chair, Computational BIology and Medicine Program, Princess Margaret Cancer Centre, University Health Network.
Associate Professor, Medical Biophysics, University of Toronto.
Disclosures: https://github.com/michaelmhoffman/disclosure/
🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide.
www.ashg.org
🔬 Premier centre européen dédié aux maladies génétiques.
📍 Campus Necker - Enfants Malades, Paris | #Recherche #Santé #Innovation
🌐 www.institutimagine.org
RNA-centric Staff Scientist | Nonsense-mediated decay | Exon junction complex | RBPs | Gehring Lab @ University of Cologne 🧫 https://orcid.org/0000-0001-7588-9842
RNA biology lab studying cell fate and cell identity in the context of embryonic development and disease @Goethe University
#ribosome #translational_control #RBP #splicing #RNA_localizatilzon
https://kurianlab.com/
Alum:@salkinstitute @yeo lab, UCSD
🧬 Human geneticist | Genomics of rare diseases
MD, PhD 🇫🇷 | currently based in Oxford 🇬🇧
The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders.
https://gregorconsortium.org/
Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. Part of @natureportfolio.bsky.social
Repost/like=interesting/relevant, not necessarily endorsement.
https://eichler.gs.washington.edu/
Genomics initiative lead at @GoogleDeepMind.
Models from our team: Enformer, AlphaMissense, and AlphaGenome.
Nucleic Acids Research (NAR), from Oxford University Press, publishes the results of leading-edge research into physical, chemical, biochemical and biological aspects of nucleic acids and proteins involved in nucleic acid metabolism and/or interactions
The UCSC Genome Browser is a public, freely available, open-source web-based graphical viewer for displaying genome sequences and their annotations.
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
Genetics in Medicine Open, an official journal of @theacmg.bsky.social and companion journal of @GIMJournal.bsky.social
Site use policy: bit.ly/gimconduct.
GA4GH sets standards and frames policies to expand genomic and health data use within a human rights framework.
https://www.ga4gh.org
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.
Using genomic information to improve medicine
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.
Scientist at University of Edinburgh. Director of MRC Human Genetics Unit but posting in my own capacity.
AI slop (except one) enjoyer
#AssociateProf #CompBio #Omics #WomenInScience #LGBTQ+Ally #Scottish #PrecisionMedicine #HealthCare #MDx #ME/CFS #RareDisease #Informatics #SciFiNerd #LongCovidAffected
sites.uab.edu/cgds/ she/her
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)
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own.
@cgonzagaj everywhere 🐦🦣☁️🧵
Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky
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.
DPhil Student and RA at the CRDG Lab, University of Oxford
Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻
Loves Evolution, regulation, cheese and cats. She/Her
Associate Professor in Human Genetics and Genomic Medicine @HiLIFE_helsinki, @FIMM_UH, @UH_Neuro and Faculty of Medicine. Stem cells, single cells, genomics, and neurodevelopment.
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
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.
Cardiovascular genetic scientist, crafter, mum.
Passionate about opening up cardiovascular research to more people - @thehearthive.bsky.social. Has too many hobbies. London, UK
Clinician Scientist. Cardiovascular genetics, genomics in healthcare, inherited cardiac conditions, open science, patient participation. He/him.
https://profiles.imperial.ac.uk/j.ware
Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs.
Human genetics, rare disease and de novo variant detection | selfish selection | mosaicism | cell competition | paternal age effects | spermatogenesis | testis
@University of Oxford @MRC- WIMM
Postdoc at University of Exeter 🇮🇪🇮🇳🇬🇧 Statistical/Computational analyses using any NGS-based data
Formerly at Sanger institute working on recessive developmental disorders in DDD
Postdoc at Oxford in neurogenetics 🧬 Previously PhD at Sanger/Cambridge, ACB at Broad. Harvard cognitive neuro 🧠
MD-PhD candidate at the University of Sydney & Garvan Institute.
Studying tandem repeats in single-cell contexts w/ @dgmacarthur.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.
Physician-scientist, Adult genetics, Human genetics research, Baylor College of Medicine. Thoughts expressed = my own.
Nordic EMBL Postdoctoral Fellow @ Kilpinen lab, University of Helsinki | Chromatin dynamics, gene regulation, structural variation | neurodev, retina, space!
rare disease neurogeneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | here for the science, lab fun & occasionally my tiny hooman
https://sites.northwestern.edu/carvilllab/
Group Leader @mrc_hgu investigating gene regulation in development & human disease
Group Leader in Human Genetics, Wellcome Sanger Institute
Rare disease program lead, Centre for Population Genomics.
🇦🇺🇳🇿
Psychiatric genetics, complex trait genetics, genome sequencing, rare variants are my jam
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.
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
CEO @GenomicsEngland, Honorary Consultant and Associate Professor in Clinical Genetics @GOSH. Still just about a runner
Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
DVM PhD | Researcher at the University of Auckland | Genomics, variant interpretation | Rare diseases | Cancer, Molecular Tumour Boards | Inherited cardiac diseases | 🧬
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,
Wellcome PhD student @ Oxford 🧬
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!
Scientist | former Postdoc at The University of North Carolina at Chapel Hill (USA) | now at UKM Münster (Germany) | Gene Therapy & Post-Transcriptional Gene Regulation & Molecular Genetics | she/her | 🇩🇪> 🇺🇲>🇩🇪
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
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰
I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
Research group leader at Hasso Plattner Institute.
Medical genomics, precision medicine, epilepsy.
Research genetic counsellor. PhD in Science Communication.
Researching equitable genomic testing & genetics of neurdevelopmental disorders.
https://substack.com/@jonathanrob1985?utm_source=user-menu
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
Clinical Geneticist in Toulouse 🧬
Passionate about rare diseases and skeletal disorders 🔥
Group Leader at Technical University Munich, Germany. Focus on 🧪 childhood cancer predisposition / leukemia / prevention / genetics / genomics 🧬
Director, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai. Shakuhachi student.
Neuroscientist, yoga aficionado, wish I could do more for equality and human rights all around the world
Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU)
A leading peer-reviewed genomics journal. https://genome.cshlp.org
Submit: http://submit.genome.org
Directeur UMR CNRS 7051, INP @inp-marseille.bsky.social @cnrsbiologie.bsky.social
Équipe Interactions moléculaires & pharmacologie + plateforme PINT
Vice Doyen @facpharmarseille.bsky.social @univ-amu.fr
Interim Director General EMBL. I have an insatiable love of biology. Consultant to ONT and Cantata (Dovetail)
Focusing the power of genomics to create a healthier world. Leader in pangenomics, conservation genomics, cancer genomics, pathogen genomics, and nanopore sequencing. Home of the UCSC Genome Browser, @ucscxena, UShER, Dockstore, and other high-power tools.
The world's largest open resource of human genetic variation. For help please use http://broad.io/gnomad_forum; feature requests/bug reports to http://broad.io/gnomad_github
Translating science from bench to bedside and from jargon to lay language
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
Genomic technologies: WES/WGS, long-read sequencing, optical genome mapping, somatic mutations;
Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
https://shorturl.at/MxQ7O
https://www.immuno-genomics.com
Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
Bienvenue sur le compte officiel Bluesky des Hôpitaux Universitaires de Marseille, CHU de la 2ème ville de France. Notre ADN : prendre soin, innover, transmettre. #APHM
Making genomics faster layerlab.org
Enthusiastic Geneticist !
Associate Professor of Biomolecular Engineering at the University of California, Santa Cruz; Associate Director, UC Santa Cruz Genomics Institute
Bloomberg Distinguished Professor at Johns Hopkins University. http://schatz-lab.org
Finished a human genome, working on a few more 👨💻
Lab: https://genomeinformatics.github.io
Posts are my own
Genomics & Bioinformatics Scientist at the University of Edinburgh | Head of Edinburgh Genomics | #Omics #NGS #LongReads 🧪🧬 🖥️
Opinions my own. He/Him
LinkedIn: https://www.linkedin.com/in/javiersantoyolopez/
Geneticist, researcher and educator
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
A multidisciplinary community of researchers with the mission to better understand the roots of disease and narrow the gap between new biological insights and impact for patients. Broadinstitute.org
Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation.
https://www.varianteffect.org
https://www.linkedin.com/company/atlas-of-variant-effects-alliance
Stephen Montgomery. Stanford Medicine Professor of Pathology, Genetics, Biomedical Data Science and, by courtesy, Computer Science.
Sporadic on social media.
Computational Biologist. Mostly in English, sometimes in French. #NoPasaran
