@drscotthadland.bsky.social
Pediatrician 👨🏻⚕️ • Chief of Adolescent Med at MassGeneral • Associate Prof at Harvard Med • NIH researcher • Husband & dad of 2 kiddos • 🇨🇦 in 🇺🇸 & 🌈
@coralcitycamera.bsky.social
The CCC is an underwater camera streaming live from an urban coral reef in Miami, FL. A public art & scientific research project by Coral Morphologic (https://bsky.app/profile/coralmorphologic.bsky.social) ◦ coralcitycamera.com
@rasnet.bsky.social
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh
@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
@epilepsysparks.bsky.social
Educating re the #epilepsies 🧠⚡🔬🧬! Check out our podcast & website! We bridge the comms gaps between clinicians, academics, & people with an epilepsy!
@lauren80.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@jillianmckee.bsky.social
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
@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
@curesyngap1.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@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/
@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
@christeldepienne.bsky.social
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
@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.
@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
@cacna1c.bsky.social
Improving diagnosis, treatment and care of those living with #CACNA1C related disorders including #TimothySyndrome and #LongQT8. Registered charity no: 1185523. NGO Source certified 501(c)(3) equivalency determination. https://linktr.ee/cacna1c
@derubeislab.bsky.social
Neuroscientist & geneticist studying neurodev, autism, and DDX3X | PREP Director | Immigrant | 2x mom | #firstgen | #Humboldtian (she/her) Born and raised in 🇮🇹, had fun in 🇧🇪, transplanted in 🇺🇸 Views my own https://labs.icahn.mssm.edu/derubeislab/
@kcnq2.bsky.social
⚡ Supporting breakthroughs for KCNQ2 families 🧬 Research | Advocacy | Hope 🎯 Goal: $100K by 12/31 – Every dollar doubled! ❤️ Join us: https://givebutter.com/2024KCNQ2
@pacbio.bsky.social
Our mission is to enable the promise of genomics to better human health by creating the world’s most advanced sequencing technologies.
@drashm2.bsky.social
Clinical Medical Geneticist 🇨🇦, immunogenetics, #T1D polygenic risk. #raredisease clinical trials.
@jimd-editors.bsky.social
The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Social Media maintained by James Nurse
@reza-maroofian.bsky.social
Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@theacmg.bsky.social
American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @GIMJournal #ACMGMtg25 #ACMGFoundation https://www.acmg.net/ Site Use http://bit.ly/2Xgjd6l
@rdndlab.bsky.social
RDND Lab at King’s College London led by Cristina Dias. Clinical Geneticist and Rare Disease researcher. Rare Conditions, neurodevelopmental disorders of chromatin regulation and chromatin remodeller-TF interactions. https://tinyurl.com/rdndkcl
@rd-rn.bsky.social
An online hub supporting patient driven research ideas to be realised & flourish. Open to all. Join the #RareDisease #Research revolution at www.rd-rn.org * connections * resources *mentoring NIHR funded, co-created by CamRARE, PLRH & patient experts
@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
@ucscgenomics.bsky.social
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.
@dgmacarthur.bsky.social
Genomics, big data, open science, diversity. Director of the Centre for Population Genomics, focused on building a more equitable future for genomic medicine. Opinions my own.
@anneotation.bsky.social
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
@heidirehm.bsky.social
Genomic medicine researcher; chief genomics officer at MGH; clinical lab director at @broadinstitute
@msol.bsky.social
Associate Director, Genomic Data Visualization at the Broad Institute of MIT and Harvard. https://gnomad.broadinstitute.org
@gnomad-project.bsky.social
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
@molinalab.bsky.social
Group leader of the Stochastic Systems Biology Lab at IGBMC - CNRS - University of Strasbourg. Models of gene regulation based on biophysics-informed deep learning: https://www.igbmc.fr/molina
@hnrnpfamily.bsky.social
Nonprofit dedicated to improving the lives of those affected by HNRNP-Related Neurodevelopmental Disorders through community and research.
@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.
@nature.com
Research, news, and commentary from Nature, the international science journal. For daily science news, get Nature Briefing: https://go.nature.com/get-Nature-Briefing
@profbriancox.bsky.social
Professor of Particle Physics at The University of Manchester and Royal Society Professor for Public Engagement in Science
@science.org
The world's leading outlet for cutting-edge research in all areas of science. https://www.science.org
@bsky.app
official Bluesky account (check username👆) Bugs, feature requests, feedback: support@bsky.app