Timothy Syndrome Alliance (TSA)
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
@rebeccalevymdphd.bsky.social
Physician-scientist and neurogeneticist studying how to diagnose and treat neurogenetic disorders using 3D neural organoids
@antoniospantazis.bsky.social
Assoc. prof. in #ionchannel physiology & #channelopathy at Linköping University. Ever excited about the proteins that control excitability. https://liu.se/en/research/palace
@caskresearch.bsky.social
CASK Research Foundation is a UK based non-profit pushing forwards global research into CASK gene disorders. Part of the CASK Coalition, we work alongside our CASK partners in France, Australia and the US. Our aim is to find treatments for CASK disorders.
@amepilepsysoc.bsky.social
Official account for American Epilepsy Society. We support research + education for professionals working towards a world without epilepsy. RPs ≠ endorsements.
@uclbrainscience.bsky.social
We are a global leader in research and education into the mind and brain. www.ucl.ac.uk/brain-sciences
@elainelockhart.bsky.social
Consultant psychiatrist for children and young people. Chair of the RCPsych UK Child and Adolescent Faculty Best work is collaborative #GettingitRightfromthestart Fan of people, our planet and a dog walk on a beach. Scotland based.
@geneticscam.bsky.social
The Department of Genetics, @uniofcam.bsky.social : One of the few genetics departments in the UK. https://linktr.ee/camgenetics
@johnomason.bsky.social
Professor at University of Edinburgh using stem cells and organoids to understand human brain development and neurodevelopmental disorders including ASDs.
@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/
@stanfordmedicine.bsky.social
Stanford Medicine is an integrated academic health system comprising the Stanford School of Medicine and adult and pediatric health care delivery systems. Together, they advance biomedicine through research, education, and patient care: med.stanford.edu
@medsci.ox.ac.uk
Oxford University's Medical Sciences Division is an internationally recognised centre of excellence for biomedical and clinical research and teaching, comprised of 16 core departments and the School of Medicine and Biomedical Sciences. www.medsci.ox.ac.uk
@cambridgebrc.bsky.social
An @nihr.bsky.social partnership between @cuhnhs.bsky.social and the University of Cambridge @uniofcam.bsky.social We research different diseases to find new treatments & medicines. Based at CUH & Cambridge Biomedical Campus https://cambridgebrc.nihr.ac.uk
@rarediseasesint.bsky.social
RDI is the global alliance for persons living with a rare disease, across all countries and all rare conditions.
@oxfordpaediatrics.bsky.social
The Department of Paediatrics is a global leader in the research, delivery and advancement of the health and care of children and adolescents. It hosts internationally renowned programmes in drug development, gastroenterology, vaccinology to name a few.
@medicsforrare.bsky.social
Our vision is a world in which there is equitable healthcare for everyone
@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
@camrare.bsky.social
Making rare disease an everyday conversation. CamRARE is a charity empowering rare disease communities & fostering cross-sector collaboration to improve outcomes for those affected. #RareDisease Local | National | Global www.camraredisease.org
@bristolbrc.bsky.social
The Bristol Biomedical Research Centre is led by University Hospitals Bristol and Weston NHS Foundation Trust in partnership with the University of Bristol. We're funded by @nihr.bsky.social (National Institute for Health and Care Research)
@chcharityuk.bsky.social
Supporting children and young adults with Congenital Hyperinsulinism. Family Support Group Patient Led Research Advocacy Family Days and Conferences https://linktr.ee/chcharityuk
@e-l-h-i.bsky.social
@amandambuch.bsky.social
Neuroscientist, AI/ML Engineer & Classical Visual Artist | Comp. Psychiatry & Neurodev. 🧠✨🎨 SFARI Fellows-to-Faculty | Burroughs Wellcome Fund | Leading Edge Fellow | NASEM/Ford Fellow Weill Cornell Medicine & Columbia University www.amandabuch.com
@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
@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.
@cgdsociety.bsky.social
Our vision is to enable families and individuals affected by CGD to live life to the full by providing wellbeing and medical support.
@fopfriends.bsky.social
We are dedicated to supporting those living with the rare genetic condition FOP and raising awareness and much needed funds to support the research into a treatment and a cure. We also support those living with the rare condition POH.
@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.
@rasnet.bsky.social
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh
@fikri-birey.bsky.social
Assistant Professor, Department of Human Genetics, Emory University. Human brain development & disease + stem cell-based models. bireylab.com brainorganoidhub.com
@albertvilella.bsky.social
Bioinformatics Scientist / Next Generation Sequencing, Single Cell and Spatial Biology, Next Generation Proteomics, Liquid Biopsy, SynBio, Compute Acceleration in biotech // http://albertvilella.substack.com
@medicine.stitches.today
From the experience of @stitches.today, we bring you the best papers in medicine, daily in your inbox - for free! Subscribe 👉 www.stitches.today/medicine
@manubenjohny.bsky.social
Ion channels, Ca2+, Biophysics, Engineer, Dad. Assistant Professor at Columbia
@adhdfoundation.bsky.social
The Neurodiversity Charity. Lifespan clinical, psychological & education services. Training for business & public sector professionals UK & internationally☂️ https://linktr.ee/adhdfoundation
@acctsheffield.bsky.social
Autistic Children and Carers Together (ACCT) is a Sheffield charity for autistic and neurodivergent young people and their families. We run activity groups for young people, parent-carer support and family activities. https://acctsheffield.org.uk
@thekingsfund.bsky.social
We are an independent charity working to improve health and care in England. Our vision is that the best possible care is available to all. https://www.kingsfund.org.uk/
@techforgoodcast.bsky.social
We work with charities and social impact orgs to help them harness the full power of digital - and with funders & partners to create an environment of support. www.wearecast.org.uk
@nuffieldtrust.bsky.social
We are an independent health think tank aiming to improve the quality of health care in the UK by providing evidence-based research & policy analysis. 💻 www.nuffieldtrust.org.uk
@madlinsudn.bsky.social
Digital Impact Consultant. Helps charities with digital comms, content strategy and other things that follow. One half of @RadioLento.
@mpicbs.bsky.social
Research at MPI CBS revolves around #human #cognitive abilities & processes in the #brain, with focus on functions like #language, #memory, #emotions & #action.
@mcri.bsky.social
Our team is dedicated to making discoveries to prevent and treat common and rare childhood conditions. Celebrating over 35 years of discovery since 1986.
@natrevgenet.nature.com
Publishing reviews and commentaries across the fields of genetics and genomics. Part of Springer Nature and Nature Portfolio. https://www.nature.com/nrg/
@perroninstitute.bsky.social
The Perron Institute for Neurological and Translational Science was established in 1982 and is Western Australia’s longest established medical research institute. Tag: @perroninstitute.bsky.social #PerronInstitute
@genomics4psychosis.bsky.social
Director @cngg and lead of @pgc schizophrenia. Genomics, schizophrenia, rugby and close harmony singing
@positivelyominous.bsky.social
Art, psychology, tattoos, and human rights enthusiast. 🎨 Published neuroscientist at Yale, neuropsychiatric disorders, spinal cord injury. 🧠 Writing ✍️ and poetry ✨️ I love reading all kinds of books 📚 🤓
@ausgenomics.bsky.social
A national collaboration supporting the translation of genomic research into clinical practice.
@marion-mam.bsky.social
Clinical Geneticist in Toulouse 🧬 Passionate about rare diseases and skeletal disorders 🔥
@pnatarajanmd.bsky.social
Cardiologist, genetics researcher. Massachusetts General Hospital | Harvard Medical School | Broad Institute of Harvard & MIT