ERN-RND @ern-rnd.bsky.social European Reference Network for Rare Neurological Diseases (ERN-RND) to improve diagnosis, care & treatment of RND patients.
Free webinars: https://www.ern-rnd.eu/education-training/online-medical-education-for-rare-neurological-diseases/
EL PAÍS @elpais.com La mejor información en español. Con nuestra mirada puesta en España, Europa y América. Suscríbete: https://tinyurl.com/yfbk27jh
Aquí puedes consultar nuestra política de privacidad: https://tinyurl.com/32dnhzc9
Juanma Fernández Costa (He/Him) @juanmafercos.bsky.social Scientists | Molecular biologist playing bioengineering to fight muscular dystrophies at IBEC 🦾🧬⚙️💊🏳️🌈
Gemma Marfany @gmarfanyn.bsky.social Professor of Genetics. Universitat de Barcelona. Teaching, research and scientific divulgation are three of my passions.
Genetics UB @geneticsub.bsky.social 🧬 Genetics Section (Departament de Genètica, Microbiologia i Estadística de la Facultat de Biologia, Universitat de Barcelona)
https://web.ub.edu/ca/web/departament-genetica
InvestiGal @investigal.bsky.social Rede Galega pola Investigación. Únete a nós en Linkedin (@InvestiGal) e Instagram (@redeinvestigal).
investi.gal
Facultat de Biologia UB @biologiaub.bsky.social Facultat de Biologia 🌱 Universitat de Barcelona
Repensant les ciències de la vida i la sostenibilitat del planeta.
Compromís amb la llibertat, la igualtat i l'equitat.
🔗 https://www.ub.edu/portal/web/biologia
Journal of Neuromuscular Diseases @journalnd.bsky.social Facilitates progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic NDMs. Editors: Carsten Bönnemann and Hanns Lochmüller. https://journals.sagepub.com/home/JND
Rita Horvath @ritahorvath.bsky.social Professor of Neurogenetics at the Department of Clinical Neurosciences, University of Cambridge, UK
Instituto de Salud Carlos III (ISCIII) @isciiisalud.bsky.social Organismo Público de Investigación que promueve, financia y gestiona investigación biomédica y sanitaria en España.
Protegemos la salud a través de la Ciencia.
www.isciii.es
Ministerio de Sanidad @sanidad.gob.es Ministerio de Sanidad, Gobierno de España.
Alumni UPF @alumniupf.bsky.social Som la comunitat de titulats i titulades de la @upf.edu
Lochmüller Lab @lochmullerlab.org Hanns Lochmüller's research lab in Ottawa, Canada. Clinical and basic research in neuromuscular and rare disease. Posts by Hanns and team.
https://lochmullerlab.org/
Genome Aggregation Database (gnomAD) @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
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Virginia Arechavala @varechavala.bsky.social Scientist and mum. Ikerbasque Professor @ Biobizkaia HRI
Interested in #RNAtherapy for #neuromuscular disorders. De Bilbao de toda la vida and adopted Londoner.
https://www.linkedin.com/in/virginia-arechavala-gomeza-a482509/
Myofin Research Group @myofinlab.bsky.social 🧬 We research the various aspects of hereditary myopathies and muscular dystrophies
📍 @folkhalsanresearch.bsky.social , Helsinki, Finland
https://linktr.ee/myofin
World Muscle Society @worldmusclesociety.org The World Muscle Society is a global, multidisciplinary community committed to advancing the science of neuromuscular disorders and the care for people living with them.
Annemieke Aartsma-Rus @oligogirl.bsky.social Translating science from bench to bedside and from jargon to lay language
John Walton Muscular Dystrophy Research Centre @jwmdrc.bsky.social Performing world-class translational research to bring diagnosis, care and therapy to people with neuromuscular disease
Jordi Diaz-Manera @querques.bsky.social Professor of Neuromuscular Diseases at the John Walton Muscular Dystrophy Research Centre of the Newcastle University and Honorary Consultant in Genetics at the NHS Newcastle Hospital Trust. Member of the Neuromuscular diseases lab of Sant Pau Hospital.
European Journal of Human Genetics @ejhg-journal.bsky.social The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
https://www.nature.com/ejhg/
@diseasegenes.bsky.social @diseasegenes.bsky.social I report new human disease-gene associations.
Let me know if I miss one!
(use #MorbidGene - message me first so I can set you up!)
Creator: @JamesFasham.bsky.social
#Genomics #RareDisease #Genetics
Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social Rare & neuromuscular disease researcher at UWA & the Harry Perkins Institute, Perth 🇦🇺
Passionate about #sciencefunding, #womeninSTEM, #EMCRs
Mum of 👦👧🐶
Posting about genomics, rare disease, PI life & wine
https://www.ravenscroftlab.com
ERDERA @erdera.bsky.social Advancing prevention, diagnosis and treatment research for the 30 million people living with a rare disease in Europe.
🔗 erdera.org
Co-funded by European Union's #HorizonEU Research & Innovation programme. Views expressed are of authors only.
Fundació Catalana per a la Recerca i la Innovació @fcri.bsky.social La Fundació Catalana per a la Recerca i la Innovació (FCRI) promou el talent científic des de l’escola, divulga la ciència i connecta la recerca amb les empreses.
ICERCA @cerca.cat I-CERCA és una fundació impulsada per la Generalitat de Catalunya per coordinar, representar i donar suport al Sistema de centres CERCA.
#SomCERCA
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.
Anna Esteve Codina @annaesteveco.bsky.social Functional Genomics Team Leader @CNAG 🧬💻🔎 omics, rare diseases, single-cell, long-reads, transposons.
Leslie Matalonga @lmatalonga.bsky.social 
Alex Hoischen @ahoischen.bsky.social Genomic technologies: WES/WGS, long-read sequencing, optical genome mapping, somatic mutations;
Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
https://shorturl.at/MxQ7O
https://www.immuno-genomics.com
Centre de Regulació Genòmica (CRG) @crg.eu Hola! We are the CRG, a research institute exploring the frontiers of biology in Barcelona. Som un centre CERCA. www.crg.eu
Cèlia Ventura i Gabarró @soctastaolletes.bsky.social Immigrant a Dinamarca. Graduada en salut global. Divulgo coses científiques per aquí,
@neurofregides.bsky.social i a #QuèQui3Cat
Defensora de #scienceANDarts (she/her)
https://jo.cat/soctastaolletes
Eric Topol @erictopol.bsky.social physician-scientist, author, editor
https://www.scripps.edu/faculty/topol/
Ground Truths https://erictopol.substack.com
SUPER AGERS https://www.simonandschuster.com/books/Super-Agers/Eric-Topol/9781668067666
IBEC | Institute for Bioengineering of Catalonia @ibecbarcelona.eu We shape the present and future of #medicine with #Bioengineering.
A unique @cerca.cat research center. Member of @bist.eu.
https://ibecbarcelona.eu/
Zornitza Stark @zornitza.bsky.social Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Centro de Investigación Biomédica en Red (CIBER) @ciberisciii.bsky.social Cuenta oficial del Consorcio Centro de Investigación Biomédica en Red, CIBER del Instituto de Salud Carlos III. Nuestro objetivo es impulsar la investigación en Biomedicina y Ciencias de la Salud.
Web: https://www.ciberisciii.es/
Ainoa Tejedera-Villafranca @ainoatejedera.bsky.social 
Maria Sopena Rios @mariasopenarios.bsky.social PhD student at Melé Lab, Barcelona Supercomputing Center | Studying sex differences in aging 🧬| science, music and books
Marco Savarese @marsavarese.bsky.social Myofin Principal Investigator@Folkhälsan Research Center.
CNAG @cnag-eu.bsky.social The Centro Nacional de Análisis Genómico carries out projects in genome analysis to improve people’s health and quality of life
#genomics #personalisedmedicine
Jordi Pijuan @jordipijuan.bsky.social Biologist, PhD 🧬 Researcher at the Neuromuscular Disorders Unit (Sant Joan de Déu Research Institute) | Exploring rare diseases with a focus on the genetics of #neuromusculardisorders | Managing editor at Orphanet Journal of Rare Diseases 🦓
Universitat de Barcelona @ub.edu Benvinguts a la #UniBarcelona, una porta al coneixement i a les experiències a la primera universitat de Catalunya. L’obres amb nosaltres?
Normes d’ús de les xarxes socials: https://web.ub.edu/avis-legal
Hospital Sant Joan de Déu Barcelona @sjdhospitalbarcelona.org Som un centre d'alta especialització en el tractament d'infants i dones embarassades.
Somos un centro de alta especialización en el tratamiento de niños y mujeres embarazadas.
https://www.sjdhospitalbarcelona.org/
Bluesky @bsky.app official Bluesky account (check username👆)
Bugs, feature requests, feedback: support@bsky.app