Ashish Agarwal @hashr47.bsky.social solvuu.com | Clinical Genomics | Drug Discovery | Formal Methods
CDKL5 in Color @cdkl5incolor.bsky.social On the CDKL5 in Color podcast you'll hear lessons learned direct from parent caregivers of children living with #CDKL5 Deficiency Disorder, a rare developmental and epileptic encephalopathy. www.CDKL5inColor.com
John Greally @greally.bsky.social Using genomic information to improve medicine
Tatiane Yanes @tatyanes.bsky.social Genetic counsellor at Queensland Childrenโs Hospital and Research Fellow at Integrating Genomics into Medicine Group, The University of Queensland; she/her ๐ฆ๐บ๐ง๐ท
#genechat
https://www.igmgenomics.com
Alex Geary @alextremophile.bsky.social Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford ๐งฌ๐ป
Loves Evolution, regulation, cheese and cats. She/Her
Steve Moss @gawbul.io Dad, husband, and PhD ๐งโ๐งโ๐งโ๐ง๐จ๐ปโ๐ Scientist, technologist, and engineer ๐จโ๐ฌ๐ฑ๐จโ๐ป Bibliophile ๐ Philomath ๐ค Mental health advocate ๐
Passionate about #bioinformatics, #computing, #evolution, #genomics, #medicine, #science, and #sre ๐งฌ๐ฉบ๐ป
Homepage: https://www.gawbul.io
@epigeneticcongress.bsky.social @epigeneticcongress.bsky.social 
Diki @dikip.bsky.social Graduate student
flalom @flalom.bsky.social Computational cancer biologist, PhD. Multi-omics & machine learning on complex biological data. SIB instructor; founder of BioData Basel. I built drugsens (CRAN) & vcf-reformatter (Bioconda). Basel, Switzerland.
Gene-uinely Curious @geneuinelycurious.bsky.social Current undergrad, class of 2027. Very interested in computational biology and bioinformatics. May or may not post here, we'll see
Patricia Donnellan, MPH ๐บ๐ฆ๐ @stpaulsbay.bsky.social Patricia Donnellan, MPH | Found the unifying cause of chronic disease: rs5522-driven inflammation. Cured my own 29-yr CFS. Proving itโs fluid, not fatโfrom Long COVID to Maternal Mortality. ๐งฌ
www.beyondbloodtests.org
Helena Bioinformatics @helena.bio Clinical variant classification platform. Rare disease germline interpretation, ACMG/AMP. Sofia, Bulgaria.
Founder: Vladimir Mitev (ORCID 0009-0001-8013-6850).
helena.bio
Tohoku Univ Life Sciences News (Unofficial) @tohoku-life-news-e.bsky.social Based on publicly available information from Tohoku University, Graduate School of Life Sciences, we independently share life science and neuroscience research. This is not an official account.
https://www.lifesci.tohoku.ac.jp/en/
Damien C-C @dccc-phd.bsky.social Human geneticist ๐งฌ, bioinformagician ๐ง๐ปโโ๏ธ, choral musician ๐ผ, and unrepentant city slicker ๐๏ธ. Amplifying interesting signals (like #ScienceWin)! [he/him]
https://orcid.org/0000-0003-3466-1846
@cirneco.bsky.social @cirneco.bsky.social 
John MD @jwbelmon.bsky.social #MD, #PhD | #Pediatrics | #Medical #Genetics | #Human #Genetics | #Cardiovascular | #Congenital | #Genome #Sequencing | #HealthEcon | #Causal #Inference
belmontgenetics.org
Ashley @autism2027.bsky.social Autism Conference 2027
February 17-18, 2027 | Singapore
Theme: "Autism, AI & Neurodevelopment Science"
Website: https://infygroups.org/autism-conference/
Email: autism@infyconferences.com
Phone: +44 7832 382321
Ying Wang @yingwangyw.bsky.social Instructor in Medicine & former postdoc @MGH/HMS | Broad Institute
The Mark Shaparin Foundation @markshaparinfdn.bsky.social The Mark Shaparin Foundation honors the life and legacy of Mark Shaparin through awareness, education, and action to prevent Sudden Unexpected Death in Epilepsy (SUDEP) with the goal of saving lives.
Daniel Brock @danielbrock.bsky.social MD/PhD Student Baylor College of Medicine
Genetics of glaucoma and retinal degeneration ๐งฌ๐
I like bikes ๐ฒ
European Medical Journal @emjreviews.com #1 open access destination for healthcare professionals globally.
๐ emjreviews.com
aqmhd2026.bsky.social @aqmhd2026.bsky.social Official account of the 2026 Aquatic Models of Human Disease Conference (#AQMHD2026)
Daniel E. Weeks @statgendan.bsky.social Statistical geneticist. Professor of Human Genetics and Biostatistics at the University of Pittsburgh. Assiduously meticulous.
American Medical Journal @americanmedicaljournal.com AMJ: #1 open access destination for HCPs. Peer-reviewed journals & diverse content hub. Interviews, podcasts, webinars, infographics.
๐: https://www.emjreviews.com/en-us/amj/
Fiona Hagenbeek @fionahagenbeek.bsky.social Postdoctoral researcher at the Department of Biological Psychology and @ntrbiopsy.bsky.social at the Vrije Universiteit Amsterdam. Previously at the Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki. @fimm-uh.bsky.social
Dr. Todd Ewing PhD. @ewingt-phd.bsky.social Drug Discovery / Aging / Fitness
Convincing myself that aging is simply loss of regulation/repair and CAN BE reversed!
I wrote a book! BIOLOGICAL YOUTH http://amazon.com/dp/1535584459
JP. Sachs @jpsachs.bsky.social 
@nkeetley.bsky.social @nkeetley.bsky.social 
Jordan Safer @jordansafer.bsky.social 
David Abuรญn Eichinger @davideichinger.bsky.social I enjoy playing with family, reading science fiction and history, gardening, board games, and hiking. I'm a father, husband, Navy veteran, and graduate student studying Robotics at George Mason University.
Mastodon: https://scicomm.xyz/@David
Zack @zachario.bsky.social 
Axel Schmidt @axel-schmidt.bsky.social Medical doctor (2015) | Board-certified in Human Genetics (2025) | Researcher & Bioinformatician | Outdoor sports (hiking - biking - swimming) | Read | Cook | Relax :)
All things in moderation including moderation itself @mysticunicorn9.bsky.social 
Socializing with Scientists @socwithsci.bsky.social The podcast that explores the surprising secrets of curious people. Hosted by Rachael Moeller Gorman.
https://www.buzzsprout.com/2464891
https://socializingwithscientists.com/
Hasso-Plattner-Institut @hpi.bsky.social Das Hasso-Plattner-Institut vereint exzellente #Forschung und #Lehre im #DigitalEngineering.
http://hpi.de/impressum
Junior Einsteins Science Clubยฎ @junioreinsteins.bsky.social Award-winning Science events for kids. Founded Irelandโ๏ธ Scientist, Mum, speaker United Nations ๐บ๐ณ Fun, messy, screen-free hands-on, STEM fun Ireland ๐ฎ๐ช UK ๐ฌ๐ง Canada ๐จ๐ฆ Saudi Arabia ๐ธ๐ฆ Luxembourg ๐ฑ๐บ Ukraine ๐บ๐ฆ International Schools partnerships. Franchise.
Open Research and Public Engagement Roadmap @engagedroadmap.bsky.social Co-Creating Ireland's Public Involvement in Open Research Roadmap
ENGAGED is building a national roadmap to shape public involvement in open research in Ireland. We believe that research can and does play an important role in tackling societal challenges.
Matthew Wheeler ๐ฆ @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.
Aoife McMahon @aoifemcm.bsky.social Immigrant scientist, genes etc @ EMBL-EBI
Stรฉphanie Baulac @sbaulac.bsky.social Brain Mosaicism-Cortical Malformations-Epilepsy
Group leader @Institut du Cerveau/Paris Brain Institute
@charliegeorge.bsky.social @charliegeorge.bsky.social 
@julirsch.bsky.social @julirsch.bsky.social 
John Flanagan @watfordjohn.bsky.social Grandpa, Carer, Watford fanatic, ex-teacher and gardener.
Alexander Symon-Allen @asallele.bsky.social NHS Clinical Scientist in Genomics ๐งฌ
Epilepsy ๐ฃ Neuro Tumours ๐ง Inherited Cancers ๐ฆ
@jellingford1.bsky.social @jellingford1.bsky.social 
@karthid90.bsky.social @karthid90.bsky.social PhD Student in Integrative structural biology on RNA-binding proteins.
#crystallography #SAXS #NMR #RNA #biophysics #biochemistry #structuralbiology
@carolinenava.bsky.social @carolinenava.bsky.social 
Fanny-Dhelia Pajuste @fannydhelia.bsky.social PhD student at University of Tartu.
Bioinformatics, genomics
The Kartoffel @ourlittlekartoffel.bsky.social kartoffel.substack.com
Just writing what comes to mind.
Mostly about life as a parent to a child with a rare medical condition.
Kira Detrois @detroiki.bsky.social PhD student in AI for Health at FIMM/University of Helsinki ๐ซ๐ฎ | Working with large scale registry / biobank data ๐ฉ๐ผโ๐ป | currently on improved kidney disease screening ๐ฉบ | Otherwise found reading ๐๐ speed puzzling ๐งฉ and training my dog ๐
v-ATPase Alliance @vatpasealliance.org Empower and unite families affected by v-ATPase genetic disorders
Advance Scientific Research on v-ATPase. Ultimately get a Cure!
๐งฌ Several ATP6V- genes
Low Society @metacapitalism.bsky.social Deeply committed to opposing MAGA. my pup, books, TV, old movies, jazz, rock, and classical music, beach walks, writing (fiction and non-fiction), abstract painting, stone sculpting, deep sleep, and non-violent villainy.
Ryan Dhindsa @ryandhindsa.bsky.social Assistant Professor at Baylor College of Medicine & Texas Children's Hospital | Human genetics and single-cell genomics | Formerly Columbia Med & Duke
Nicholas M Tran @nmtranlab.bsky.social Studying neuronal resilience and regeneration, visual development, and neurobiology
@michalosuch.bsky.social @michalosuch.bsky.social 
Jen L, PhD @drjkyl.bsky.social Executive Editor/Team Lead Open Access Science & Medicine Journals Sage Publishing
Opinions = mine
http://linkedin.com/in/jlovick-editor
#oncology #cancerresearch #medicine #biology #cardiology #neurology #microbiology #publichealth #healthcare
Kutand Alkฤฑm Bayer @kutandalkim.bsky.social IZTECH-Chemistry, I like to be Polymath(learning different subjects), Polygot(interested in the learning different languages) comments and opinions are my own RTโ is not endorsement (he/him)
Coalition to Cure CHD2 @curechd2.bsky.social Patient advocacy group serving those affected by CHD2, a rare developmental & epileptic encephalopathy (DEE) associated w/Jeavons/EEM, photosensitive seizures, autism + intellectual disability. Accelerating research & supporting community www.curechd2.org
Elizabeth Atkinson @egatkinson.bsky.social Population and statistical genomicist working to make genomics fully representative. Views are my own. (she/her)
CheckRare @checkrare.bsky.social Rare diseases are our focus, expertise, and passion.
Emilie Wigdor @emiliewigdor.bsky.social Postdoc at Oxford in neurogenetics ๐งฌ Previously PhD at Sanger/Cambridge, ACB at Broad. Harvard cognitive neuro ๐ง 
Tom Soare @twsoare.bsky.social Statistical genetics and machine learning @ insitro | previously goldfinchbio | mgh | uw
Sally Sansom @sallysansom.bsky.social Health Economics & Outcomes Research โข @herc-oxford.bsky.social โข @cpmoxford.bsky.social
Centre for Personalised Medicine @cpmoxford.bsky.social The Centre for Personalised Medicine (CPM) is a partnership between the University of Oxfordโs Centre for Human Genetics and St Anneโs College. We provide a focus for multidisciplinary communication, engagement and research. 
Jackie Steinberg @jackieaj1.bsky.social Rare Disease Mom
STXBP1
MPH CIC
Infection Control
Melania Nowicka @melanianowicka.bsky.social Research Scientist at @hpi.bsky.social
cooking ai for synthetic biology ๐งฌ๐งซ |๐Berlin
Oriana H @osc2101.bsky.social 
Erin Heinzen @eheinzen.bsky.social 
Reza Maroofian @reza-maroofian.bsky.social Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
Manuel Rivas @mrivas03.bsky.social Stanford professor. Interested in human genetics, AI, statistical modeling, entrepreneurship.
https://rivaslab.stanford.edu
Eleanna Kara @eleannak.bsky.social Assistant professor, Rutgers university.
Biomolecular condensates, lipid droplets, alpha-synuclein
Madhur Bain Singh @madhurbsingh.bsky.social Researcher in statistical genetics, genetic epidemiology and precision medicine.
Bridging the whys and hows in psychiatric genetics.
With Prof Cathryn Lewis at SGDP Centre, @kingsioppn.bsky.social.
Via Virginia Inst for Psychiatric & Behav Genetics, VCU.
@katrinemjohannesen.bsky.social @katrinemjohannesen.bsky.social 
Anne Goriely @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
Goriely Lab @gorielylab.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
Matthew Alexander, PhD @mattmuscleguy.bsky.social Geneticist, Skeletal Muscle, Drug development, Gene therapies. Non-coding RNA, and Zebrafish Aficionado. Lover of all things muscle. All posts are my own. Instagram @thealexanderlab
Lab website: https://www.uab.edu/medicine/peds/research/division-researc
Andrea Eoli @aeoli.bsky.social Researcher / PhD student in Genomics and Precision Medicine
@tomaeusto.bsky.social @tomaeusto.bsky.social 
Lignani Lab @lignanilab.bsky.social UCL/ Neuroscience/ Epilepsy/ Gene therapy/ Brain Dynamics/ Dravet Syndrome/ CRISPR/ Homeostatic plasticity
@susanneroosing.bsky.social @susanneroosing.bsky.social 
Living Well With Epilepsy @livingwellwithepilepsy.com Your place for all things #epilepsy. Built by and for people living with and affected by #epilepsy. Around since 2009. Founder & CEO - Jessica K. Smith 
@the-other-dog.bsky.social @the-other-dog.bsky.social 
Kartik Chundru @chundru.bsky.social Postdoc at University of Exeter ๐ฎ๐ช๐ฎ๐ณ๐ฌ๐ง Statistical/Computational analyses using any NGS-based data
Formerly at Sanger institute working on recessive developmental disorders in DDD
Jitse S. Amelink @jsamelink.bsky.social Postdoc computational neurogenetics @mpi-nl.bsky.social
neuroscience x genetics x cognition&language x scicomm
Kevin Mitchell @wiringthebrain.bsky.social Neurogeneticist interested in the relations between genes, brains, and minds. Author of INNATE (2018) and FREE AGENTS (2023)
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Ana Mingorance @cnsdrughunter.bsky.social ๐ง ๐งฌ Neuroscientist. Looking for new medicines for #CDKL5, #SCN1A, #SHANK3, #DHPS and other neurological #RareDiseases with #epilepsy
Audrey Vernick @audreyvernick.bsky.social Epilepsy surgery mom, patient & family advocate, dog person. Former teacher and journalist. I support access to healthcare, equal rights, and a safe, clean environment. I love my family most of all. ๐ถ๐๐ดโโ๏ธ๐ญ (posts are my opinion only)
Elfride De Baere @elfridedebaere.bsky.social Professor @UGent I Rare eye & developmental diseases I IRD I Retina & RPE I Non-coding variation I Multiomics I Targets for treatment
debaerelab.com progret.eu
Melissa Bowerman @bowermanlab.bsky.social Professor of Neuromuscular & Skeletal Disorders, Keele University. I research pathologies and new treatments in rare neuromuscular & skeletal disorders.
www.thebowermanlab.com
Katja Kobow @katjakobow.bsky.social Epigenetics enthusiast. Working in molecular neuropathology ๐ง ๐ฌ๐งฌ @FAU.de. Visiting scientist @UKL_Leipzig. Malformations and #epilepsy. DNA methylation and #aging.
kobowlab.org
Kevin Bender @neurobender.bsky.social Neuroscientist at UCSF.
Studies everything related to neuronal ion channelsโtheir modulation, their role in neuronal integration, and the intersection between these functions and neurodevelopmental and neuropsychiatric disorders.
Peter Mรผller-Wรถhrstein @epilepsy-sci.bsky.social Physician Scientist in Epilepsy
Hertie Institute Tรผbingen
Precision Therapy l RNA-Seq
KCNA2, KCNA1 and SCN1A
Institute of Molecular Genetics @imgprague.bsky.social Public scientific institution, part of the Czech Academy of Sciences. Research in molecular, structure and cell biology, immunology, genomics and bioinformatics.
Svetlana Gorokhova @sgorokhova.bsky.social 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
Karolina Kaminska @karkam.bsky.social PhD student in the Ophthalmic Genetics group at IOB and University of Basel | Medical laboratory scientist