Stanford Bioinformatics Center @stanford-bic.bsky.social The Stanford Bioinformatics Center aims to leverage advanced computational technology to bridge large multiomic datasets and biological science.
Evan Kransdorf @ekrans.bsky.social Heart failure cardiologist at Cedars-Sinai Medical Center
uncited @uncited.org Literature monitoring for scientists. uncited aggregates journal and preprint feeds into one clean interface. Here, we post the most-bookmarked papers across the platform • uncited.org
Patricia Donnellan, MPH 🇺🇦📎 @stpaulsbay.bsky.social Patricia Donnellan, MPH | Found the unifying cause of chronic disease: rs5522-driven inflammation. Cured my own 29-yr CFS. Proving it’s fluid, not fat—from Long COVID to Maternal Mortality. 🧬
www.beyondbloodtests.org
James Lo, MD, PhD @jameslo-mdphd.bsky.social Metabolic scientist, cardiologist at Weill Cornell Medicine
Jameslolab.org
HIMSS27 | April 5-8 | Chicago @himssgc.bsky.social https://www.himssconference.com/
Malachi Griffith @malachigriffith.bsky.social Professor, Department of Medicine and McDonell Genome Institute @ Washington University. Specializing in Bioinformatics, Genomics, and Cancer. http://griffithlab.org/
David Bacsik @dbacsik.bsky.social UW MD/PhD student studying severe respiratory virus infections
Past work with:
@jbloomlab.bsky.social
Greninger Lab @ UW Virology
@pablotsukayama.bsky.social
Eric Salsburg…Grow The Resistance. @ericsalsburg.bsky.social 🟦Fuck trump, Fuck Fascists, Fuck Netanyahu…Save Our Democracy.
Save us, VOTE BLUE MIDTERMS/2028. LOVE YOUR NEIGHBORS!
Philly Sports Lifer. Animal Rights/Animal Welfare, Climate Change, Human/Civil Rights, Fighting For The Underdog, Standing with Ukraine 🇺🇦
The North American AED Pregnancy Registry @aedregistry.bsky.social Empowering Pregnant Women with Information About Anticonvulsants through Research
40:40 Recruitment - celia@4040recruitment.co.uk @4040rec.bsky.social We are a Specialist Recruitment Partner within the Pharma, Healthcare, Medical Devices & MedTech arenas throughout UK & Ireland. We cover all levels of roles in Commercial, Sales, Market Access, Market Research, Marketing, People Management & Medical
@mvshaw97.bsky.social @mvshaw97.bsky.social 
Bookshelfie ⭐️ @bookshelfie.bsky.social The Self-Pub Hub (Book Review and Story Site)
Submissions open now:
https://book-shelfie.com/submissions
Book tour inquiries: contact@book-shelfie.com
Vaughn Smider, MD, PhD @vvsmider.bsky.social Biomedical researcher, antibody investigator (especially cow antibodies 🐮, which are the best), drug discoverer, entrepreneur, mediocre swimmer 🇺🇸 🇺🇦
Founder and President at Applied Biomedical Science Institute:
https://absinstitute.org
Owen Maresh @graveolens.bsky.social Mathematics Sorceror (sensory alchemist) at the Arctangent Transpetroglyphics Algra Laboratory (ATAL), I transflarnx mathematics into living rainbows. http://owen.maresh.info https://github.com/graveolensa,
Psoepbe-Tlaxtlal; (an undreamt splendour?)
Human Genetics and Genomics Advances @hggadvances.bsky.social ASHG's Open Access journal
https://www.cell.com/hgg-advances/home
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.
Pro-Algae Leftist @robinvetskeptic.bsky.social Retired veterinarian and college professor. Artist, cook, kewpie mayo and chile pepper fanatic.
McSweeney's @mcsweeneys.net The official Bluesky feed of McSweeney's Quarterly Concern, McSweeney's Internet Tendency, & McSweeney's Books.
.
Mina Kimes @minakimes.bsky.social NFL analyst at ESPN.
Dr. Annie Andrews @drannieandrews.com Pediatrician, Mom, Fighter for Kids and South Carolina | Running for U.S. Senate in South Carolina to take on the BS in Washington | Text ANNIE to 41907 for campaign updates | https://DrAnnieAndrews.com
Rikke S. Møller @rikkesmoller.bsky.social Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰
I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
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
Gemma Carvill @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/
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
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
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
Dr. Ina Klockner🧬👩🔬🔬 @inaklockner.bsky.social 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 | 🇩🇪> 🇺🇲>🇩🇪
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
Henrike Heyne @hheyne.bsky.social Research group leader at Hasso Plattner Institute.
Medical genomics, precision medicine, epilepsy.
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 
Yolaine Dupont @vangroovymom.bsky.social Ella's mom/Professional Patient Navigator & Advocate/Rare Disease Leader/Communicator & Marketer/Photographer.
In Ella's memory. #PVNH #FLNA #DCX #NeuronalHeterotopia
PVNHsupport.com
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.
Elisabeth Lodder @eml314.bsky.social Molecular genetics, PhD, 🧬, 🔬, cardiac arrhythmias 💔, no sense of rhythm, sewing 🧵 mother
Andrew Harper @harperar.bsky.social 
Polona Le Quesne Stabej @polona.bsky.social DVM PhD | Researcher at the University of Auckland | Genomics, variant interpretation | Rare diseases | Cancer, Molecular Tumour Boards | Inherited cardiac diseases | 🧬
Natalie Stewart @nataliepstewart.bsky.social Research Genetic Counsellor
Andrew Landstrom @andrewlandstrom.bsky.social Pediatric cardiologist, genetic scientist, specialist in channelopathies and cardiomyopathies | Duke School of Med | Duke Children’s | Director of Duke’s Pediatric Research Scholars
Lab: https://sites.duke.edu/landstromlab/
#MedSky #CardioSky #CardioGen
Alex Butters @alexbutters25.bsky.social Lab manager and Clinical Researcher, Clinical Genomics Lab, Garvan Institute | PhD in Health Disparities in Genetic Heart Disease & SCD | MPH | Conjoint Associate Lecturer, UNSW Medicine & Health
Sharlene Day MD @sharday-penn.bsky.social Penn Cardiologist specializing in hypertrophic cardiomyopathy and other genetic heart disease. Mother of 2 boys and a chocolate lab. Run bike swim
Megan Grove @megrove.bsky.social genetic counselor 🧬| she/ her | views my own
Dr Kate Weeks @k8weeks.bsky.social Researcher at the University of Melbourne investigating the molecular basis for heart disease. 
Matthew J Thomas @matthewjthomas.bsky.social 
Mat Edwards 🏴🧬⚒️🫀🫁🚴 @matbobed.bsky.social Well, obviously I like a big spoon. I like cardiac and respiratory genetics and cycling and nick cave and west ham and otters and post apocalyptic books and sci-fi and sitting around a campfire and Wales and other things. Do NOT like prunes though.
Jo Duflou @jduflou.bsky.social Australian forensic pathologist, general mutters and mumbles, some medically oriented
Laura Catto @lauracatto.bsky.social Research Genetic Counsellor 🧬 Working in cardiac genetics at Garvan Institute
Kathryn McGurk @kathrynmcgurk.bsky.social Cardiovascular Geneticist / Bioinformatician 🇮🇪 BHF Immediate Research Fellow at Imperial College London, UK.
https://profiles.imperial.ac.uk/k.mcgurk
@pjrbarton.bsky.social @pjrbarton.bsky.social 
@lwilsbacher.bsky.social @lwilsbacher.bsky.social Cardio🧬 Physician-Scientist, Mom, Runner 🏃♀️
Luis Lopes @luisrlopes.bsky.social Consultant Cardiologist and Associate Professor - Inherited Cardiac Disease and Cardiac MRI- Barts Heart Centre/University College London
Chai Ann Ng @chaiannng.bsky.social ClinGen VCEP members for cardiac potassium and sodium channels. I provide functional data using Automated Patch Clamp as evidence for VUS reclassification in channelopathies. Disclaimer: “Opinions expressed are my own.”
@tomlumbers.bsky.social @tomlumbers.bsky.social 
Declan O’Regan @drdeclanoregan.bsky.social BHF Chair of Cardiovascular AI & Consultant Radiologist. Computational Cardiac Imaging group, MRC Laboratory of Medical Sciences. 🚁
Laura Yeates @laurayeates1.bsky.social Cardiac Genetic Counsellor
Peer Arts @peerarts.bsky.social Rare disease genomics 🧬 transcriptomics researcher from 🇳🇱 now in Maastricht after a great experience in Adelaide 🇦🇺
Albert Henry @alberthenry.bsky.social MD 🇮🇩 | MSc 🇬🇧 | PhD 🇬🇧
Research officer - Garvan Institute of Medical Research 🇦🇺
Honorary research fellow - University College London 🇬🇧
Interested in genetics, phenotypes, and anything in-between
Julia Cadrin-Tourigny @juliactourigny.bsky.social Associate professor, Université de Montreal. Electrophysiology and Cardiac genetics, Montreal Heart Institute