Lauren Testa, Ph.D. @laurenctesta.bsky.social PhD, Gene Therapy & Vaccines @ Penn. Project Lead, Innovative Genomics Institute, UC Berkeley. #RareDisease patient-scientist interested in genetic therapies, connective tissue, dogs, and climbing. Go Bills. 🧗♀️
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social 🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide.
www.ashg.org
Aditya Pimplaskar @apimplaskar.bsky.social Bioinformatics/psychiatric genetics PhD candidate @ UCLA with Dr. Loes Olde Loohuis | UCLA CompBio+Math alum (he/him)
Lisa Hamerlinck @lisahamerlinck.bsky.social 
Amber Luckett @ambermluckett.bsky.social Postdoc researching Type 1 Diabetes genetics @ University of Exeter 🧬🌊
Natsuhiko Kumasaka @natsuhiko83.bsky.social Professor, Division of Digital Genomics, Institute of Medical Science, The University of Tokyo / Team leader, National Center for Child Health and Development
Austin Argentieri @austinargen.bsky.social Using big data to study aging and chronic disease risk at the Broad Institute, MGH, and Harvard Medical School.
Luke Jostins-Dean @lukejostins.bsky.social Data scientist at Nightingale Health, associate professor at University of Oxford
Pilar Cacheiro @pilarcacheiro.bsky.social Computational biologist. Genetics of Rare Diseases, Essential Genes, Statistics, R.
Honesty matters.
Gerome Breen @psychgenomics.bsky.social Prof Psychiatric Genetics KCL. Lead King's Genomics facility, Genetic Links to Anxiety and Depression (GLAD) Study, and the UK Eating Disorders Genetics Initiative (EDGI-UK). Gratitude to my wonderful research group, staff, and collaborators.
Agnes Caruso @agnescaruso.bsky.social Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
Teodora Barbarii @teodorabarbarii.bsky.social Medical geneticist studying rare neurodevelopmental and neurogenetic disorders. PhD student at University of Manchester
Rita Barbosa-Matos @ritabmatos.bsky.social 
Juliana Miranda Cerqueira @julianamiranda.bsky.social Doctoral researcher @CeliRes_TAU | @TampereUniMet | Former member & Consultant @eshgyoung.bsky.social
Global Alliance for Genomics and Health @ga4gh.org GA4GH sets standards and frames policies to expand genomic and health data use within a human rights framework.
https://www.ga4gh.org
UK Biobank @ukbiobank.ac.uk A large-scale biomedical database and research resource, that can be accessed globally by approved researchers, to enable scientific discoveries.
🔗 https://www.ukbiobank.ac.uk/
Genomics England @genomicsengland.bsky.social We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
James Fasham @jamesfasham.bsky.social 🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
Aleena M Stolworthy @aleenamolbio.bsky.social 🔬Ensembl training
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
Genetics Society UK @gensocuk.bsky.social The Genetics Society was founded by William Bateson & Edith Rebecca Saunders in 1919 & is one of the oldest learned societies devoted to Genetics in the world.
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
IMPC - International Mouse Phenotyping Consortium @impc-phenotypes.bsky.social The International Mouse Phenotyping Consortium (IMPC) is an international programme to find the function of every protein-coding gene in the mouse genome.
Ensembl @ensembl.org The Ensembl project seeks to enable genomic science by providing high-quality, integrated annotation.
EMBL-EBI @ebi.embl.org EMBL's European Bioinformatics Institute (EMBL-EBI) provides open biological data resources and tools, and performs basic research in computational biology. https://www.ebi.ac.uk/
@deciphergenomics.bsky.social @deciphergenomics.bsky.social 
Atlas of Variant Effects Alliance @varianteffect.bsky.social 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
#AtlasOfVariantEffects
ESHG-Young @eshgyoung.bsky.social https://linktr.ee/ESHGYoung
@eshg.bsky.social
EGA archive @egaarchive.bsky.social The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from research projects.
https://ega-archive.org/
Jess Ewald @ewaldlab.org Computational biologist using omics data (imaging, gene expression) to investigate the impacts of environmental contaminants on biological systems
Group Leader @EMBL-EBI (www.ewaldlab.org)
Wellcome Sanger Institute @sangerinstitute.bsky.social We are a world leader in genomics research. We apply and explore genomic technologies to advance the understanding of biology and improve health 🧬
https://www.sanger.ac.uk/
Nature Genetics @natgenet.nature.com 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.
Doug Fowler @dougfowler.bsky.social Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
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.
The Notorious EEG (M. Scott Perry MD) @thenotoriouseeg.bsky.social Epileptologist/Head of Neurosciences @cookchildrens, I 💜 #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
Madeleine Oudin @madeleineoudin.bsky.social Tiampo Family Associate Professor at Tufts University, cancer and epilepsy researcher, fierce advocate for diversity and inclusion, mom of a daughter with the SCN8A epilepsy
Torie Robinson @torierobinson.bsky.social 🎬 Epilepsy Sparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | PPI Lead | #Epilepsy & #MentalHealth Research fiend | All views my own
Angel Aledo-Serrano @aledoneuro.bsky.social Neurologist🧠 Epileptologist, director of
Vithas Clinical Neuroscience Institute & Epilepsy Center - #FND - Neurogenetics🧬
angel.aledo@vithas.es
Ana Mingorance @cnsdrughunter.bsky.social 🧠 🧬 Neuroscientist. Looking for new medicines for #CDKL5, #SCN1A, #SHANK3, #DHPS and other neurological #RareDiseases with #epilepsy
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
Syngap Research Fund @curesyngap1.bsky.social SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
Jillian McKee, MD, PhD @jillianmckee.bsky.social child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
@cureSYNGAP1 @lauren80.bsky.social SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@scn8a.bsky.social @scn8a.bsky.social 
Epilepsy Sparks @epilepsysparks.bsky.social Educating re #epilepsy 🧠⚡🔬🧬! Check out our podcast & website! We bridge the comms gaps between clinicians, researchers, & people with epilepsy!
@ingohelbig.bsky.social @ingohelbig.bsky.social 
Hope for ULD @hopeforuld.bsky.social Hope for ULD is uniting patients, families, doctors, and researchers to fund research, treatment, and education for Unverricht-Lundborg Disease ( #ULD ), also known as #EPM1. Learn more here: https://www.hopeforuld.org/ #RareEpilepsy #genetherapy
KearneyLab @kearneylab.bsky.social Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
Dravet Syndrome Foundation @curedravet.bsky.social The mission of DSF is to raise funds for research into Dravet syndrome and related epilepsies, while offering support to patients and families. https://dravetfoundation.org
The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social Raising awareness & promoting collaboration across the #calcium #channelopathies. Composed of caregivers & individuals impacted by the channelopathies, alongside researchers and clinicians focused on the 10 calcium genes. https://www.thevgccc.org 
Dan Lavery @djlavery.bsky.social Loulou Foundation, tackling CDKL5 Deficiency Disorder in collaboration with our amazing patient families.
Christina SanInocencio @csaninocencio.bsky.social Qualitative health communication researcher. Rare disease advocate.
Assistant Professor of Communication. LGS sibling. LI, NYC & CT
Kevin Bender @neurobender.bsky.social Neuroscientist at UCSF.
Studies everything related to neuronal ion channels—their modulation, their role in neuronal integration, and the intersection between these functions and neurodevelopmental and neuropsychiatric disorders.
Calan @calancdkl5.bsky.social Proud of the human I have become, proud Mum, Proud Wife, Proud Social Worker and Proud Patient Advocate and charity chair - CDKL5 UK BSc in Social Work and MSc in Global Health Policy
Veronica Hood, PhD @sciencehood.bsky.social Scientist. Advocate. Nerd.
Scientific Director at Dravet Syndrome Foundation since 2020. PhD in Cell, Stem Cell, and Developmental Biology from University of Colorado Anschutz Medical Campus.
Jeff Calhoun @calhoujd.bsky.social Research Assistant Professor with Gemma Carvill (@CarvillLab on Twitter). Focus: epilepsy genetics. Twin. Ace cat dad. Occasional writer. I am only an egg. He/him.
@rareepilepsy.bsky.social @rareepilepsy.bsky.social 
@drdarcy.bsky.social @drdarcy.bsky.social Neurologist and clinician scientist specializing in rare genetic disorders that result in epilepsy and autism and intellectual disabilities. Oh I also like other stuff too.
Marissa @anothermarissa.bsky.social #CDKL5 🧬 | Former school social worker turned stay-at-home medical mama | 🎙️Producer, content creator, & co-host of the CDKL5 in Color Podcast @cdkl5incolor.bsky.social
www.CDKL5inColor.com
Perrier Lab @perrier-lab.bsky.social Brain research lab interested in #neurons, #astrocytes, #motor control, #memory, and #neurodevelopmental encephalopathies, #STXBP1, #GABRB3 #epilepsy #hippocampus #interneurons #cortex #serotonin #fatigue #synapse
Chow @chowhanchua.bsky.social NHMRC Emerging Leadership Fellow | Senior Lecturer in pharmacology, Sydney Pharmacy School, The University of Sydney 🪃🐨🦘☕ Ion channels: LGICs, VGICs and leak channels. 🔬
FamilieSCN2A Foundation @scn2a.bsky.social "Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our team of leaders strive every day and, in every way, to improve the lives of not only the patients, but the entire family.
Dr. Ashley Nguyen-Martinez @drashleynm.bsky.social Pediatric Neuropsychologist @ Children’s Colorado. Assistant Professor @ Univ of Colorado. Epilepsy & (Neuro)genetics. Advocate. Rescue dog mama x 3.
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
Pangkong Fox @pangkongfox.bsky.social Scientist turned educator turned stay-at-home-mom turned rare disease parent/caregiver turned science engagement director and advocate.
www.cacna1a.org
Reza Maroofian @reza-maroofian.bsky.social Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
Jillian Hastings Ward @jillianhw.bsky.social 'that mother' - #R4Today🎙 Patient advocate, mum and wife. Genomics fan. GRI genes. Rare disease life. Poet and photographer. MBE!
JB Manent @jbmanent.bsky.social Developmental neurobiologist studying cortical malformations (grey matter heterotopia) and #epilepsy at INMED, INSERM in Marseille, France
https://orcid.org/0000-0002-2436-8593
Rebekka S. Dahl @rebekkadahl.bsky.social PhD student & Bioinformatician @The Danish Epilepsy Centre/University of Southern Denmark🇩🇰
Computational Biology 👩💻 Clinical Genetics 🧬 Rare Diseases🦓
@francescafuria.bsky.social @francescafuria.bsky.social 
(Elizabeth) Emma Palmer @emmagenetics.bsky.social Working with people living with rare conditions and intellectual disability to build an equitable, respectful and effective model of care.
https://research.unsw.edu.au/people/dr-elizabeth-emma-palmer
www.geneequal.com www.rarediseasesnsw.org.au
Alina Ivaniuk @alinaivaniuk.bsky.social [She/Her]
PGY1 Adult Neurology @Mayo Clinic Florida | Alumna, Precision Medicine in Epilepsy Fellowship @Cleveland Clinic | Vice Chair, ILAE Young Epilepsy Section | 🧬Neurogenetics | 🧠Surgical Epilepsy | ⚡Clinical Neurophysiology | 🔵🟡Proud Ukrainian
RASopathies Network @rasnet.bsky.social Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease
by Stronach in Pittsburgh
KCNQ2 Cure Alliance @kcnq2.bsky.social ⚡ Supporting breakthroughs for KCNQ2 families
🧬 Research | Advocacy | Hope
kcnq2cure.org
VP & Patient Lead at CURE GABA-A @agustinafernandez.bsky.social Rare Mom. IP Lawyer.
#GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3
PURA Foundation Australia @purafoundation.bsky.social www.purafoundation.au
We are a non-profit charitable organisation that assists in advancement of research and treatments for PURA syndrome. We support for families of, and individuals with, PURA syndrome in Australia and NZ.
Peter Müller-Wöhrstein @epilepsy-sci.bsky.social Physician Scientist in Epilepsy
Hertie Institute Tübingen
Precision Therapy l RNA-Seq
KCNA2, KCNA1 and SCN1A
Katja Kobow @katjakobow.bsky.social Epigenetics enthusiast. Working in molecular neuropathology 🧠🔬🧬 @FAU.de. Visiting scientist @UKL_Leipzig. Malformations and #epilepsy. DNA methylation and #aging.
kobowlab.org
HNRNP Family Foundation @hnrnpfamily.bsky.social Nonprofit dedicated to improving the lives of those affected by HNRNP-Related Neurodevelopmental Disorders through community and research.
Maddie Gillentine, PhD @maddiegillentine.bsky.social Geneticist | Research Director @ HNRNP Family Foundation
Interested in all things rare disease.
BA from Kalamazoo College | PhD from Baylor College of Medicine. Postdoc at UW |Former variant scientist.
@katrinemjohannesen.bsky.social @katrinemjohannesen.bsky.social 
Yoav Gilad @ygilad.bsky.social Associate Dean for data science, and Professor of Medicine and Human Genetics at the University of Chicago. 
Melissa Wilson @sexchrlab.bsky.social Geneticist. Parent. Studying sex chromosomes and sex as a biological variable in disease.
Posts and opinions are my own.
Henry North @henrylnorth.bsky.social Research Fellow at Girton College, Cambridge
Population genomics, invasive species, hybridization, adaptation, structural variation
Casey Bergman @caseybergman.bsky.social Dad, bioinformatician, ex-expat. Currently working on transposon bioinformatics & infectious disease genomics.
Jean Monlong @jmonlong.bsky.social Human genomics researcher at INSERM in Toulouse, France
Structural variant, pangenomes
https://jmonlong.github.io/
Xian Chang @xian-chang.bsky.social Bioinformatics postdoc at INRAE in Toulouse, France.
Working on data structures and algorithms for pangenome graphs
Nae-Chyun Chen @naechyun-chen.bsky.social A computer guy who finds biology & genomics amazing. I work at Exai Bio.
Claire Lemaitre @clairelemaitre.bsky.social Researcher in computational biology at Inria, Rennes, France.
Part of the @genscaleteam.bsky.social team.
https://people.rennes.inria.fr/Claire.Lemaitre/index.php
Rob Patro @robp.bsky.social Professor of CS @ University of Maryland. Proud Rust advocate! I ♥ science & compiled, statically-typed programming languages! Views are my own. Tech stack: https://github.com/rob-p/tech-stack.
Michael Hoffman @michaelhoffman.bsky.social 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/
Michael Baym @baym.lol Associate Prof @HarvardMed. Microbial evolution, antibiotic resistance, mobile genetic elements, algorithms, phages, molecular biotech, etc. Find me under “floating dumpster fire”
Titus Brown @titus.idyll.org I am not a deep man, but I have many shallows. ctbrown@ucdavis.edu, http://ivory.idyll.org/blog/.
Mike Schatz @mikeschatz.bsky.social Bloomberg Distinguished Professor at Johns Hopkins University. http://schatz-lab.org
Martin Steinegger 🇺🇦 @martinsteinegger.bsky.social Developing data intensive computational methods • PI @ Seoul National University 🇰🇷 • #FirstGen • he/him • Hauptschüler
Niema Moshiri @niema.net Associate Teaching Professor of Computer Science at UC San Diego, consulting for PlayStation and Blizzard, Bioinformatician by training, SD-raised. https://niema.net
Jason “Obstacle to Progress” Williams @jasonwilliamsny.bsky.social Assist Dir. @DNALC @CSHL
Todd J. Treangen @treangen.bsky.social Computational tools for microbial genomics, metagenomics, & public health 🧬🦠🔎
Associate Professor of Computer Science, Rice University 🦉💻
Treangen Lab website: www.treangenlab.com
Robert Haase @haesleinhuepf.bsky.social Biomedical Computer Vision & Language Models, scads.ai / Leipzig University, also NFDI4BIOIMAGE, NEUBIAS/GloBIAS, GPUs, AI, ML 🔬🖥️🚀 views:mine