Solve-RD
@solve_rd
Solve-RD is a H2020 funded flagship EU project. We will solve large numbers of rare diseases, for which a molecular cause is not known yet.
ID: 978235058153771009
http://solve-rd.eu/ 26-03-2018 11:39:47
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Tim Yu
@timyu
Neuroscience, Genetics, Genomic Medicine. Tweets my own unless one of our girls has broken into my account again in which case sorry for all the Pokémon pics
FEDER | Enfermedades Raras
@feder_ong
👉🏻 Somos la esperanza de 3 millones de personas con #enfermedadesraras 🍀 Representamos a 422 organizaciones de pacientes y a 1.546 patologías poco frecuentes
Rare Disease Day
@rarediseaseday
29 February 2024 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are affected by rare diseases. #RareDiseaseDay
EURORDIS-Rare Diseases Europe
@eurordis
An alliance of over 1,000 patient organisations working across borders and diseases to improve the lives of all people living with rare diseases.
mertkarakaya
@mertkarakaya
MD, Pediatrician, Geneticist (in chronological order)
NicolineHoogerbrugge
@nicolinehoogerb
Em. Professor Erfelijke Kanker, Radboudumc, Nijmegen, met Passie voor preventie van kanker.
CNAG
@cnag_eu
The Centro Nacional de Análisis Genómico carries out projects in genome analysis to improve people’s health and quality of life #genomics #personalisedmedicine
Rare Disease UK
@rarediseaseuk
National campaign run by @GeneticAll_UK to improve the lives of those affected by rare conditions and all who support them. #RareDisease.
Tjakko van Ham
@vanham_lab
Associate prof, clin lab specialist, functional genomics & RNA diagnostics of genetic disease, zebrafish, glia, leukodystrophy
Bill Newman
@geneticbill
Genomics and other matters...
Charlotte Ockeloen
@ockeloenc
Clinical geneticist @ Radboudumc, craniofacial genetics - clinical pharmacologist in training - therapy for rare diseases - pharmacogenomics
Sofia Douzgou Houge
@sofiadouzgou
Senior Consultant in Medical Genetics @haukeland_no Executive Board member @ernithaca Editor @ClinDysmo
Vicente Yépez
@vaym88
Latino de nacimiento. Mostly tweet about RNAseq in rare disorders and (Ecuadorian) football. CSO at omicsdiscoveries.com
Elfride De Baere
@elfridedebaere
Rare eye & developmental diseases, IRD, non-coding genome, multi-omics, treatments. @ProgRET_MSCA coordinator progret.eu @RAREMED1 @FWOVlaanderen
GeneMatcher
@genematcher
GeneMatcher
Gelana Khazeeva
@ghazeeva
PhD researcher at RadboudUMC, Department of Human Genetics
Molecular Systems Physiology Group
@ines_thiele
Ines Thiele - Molecular Systems Physiology Group with expertise in modeling of human metabolism, gut microbial metabolism and of the diet-gut-health axis.
ShuangLi
@shuangli1330
Ph.D candidate in UMCG | Genomics | Machine Learning
Richarda de Voer
@rmdevoer
Scientist | Cancer genomics | Human Genetics | Radboudumc | Breda | Dutch
EMBL-EBI Training
@ebitraining
Offering #bioinformatics training on-site at @emblebi, online, and at institutes around the world. 🏷️ Tag us in content: #EBItraining 📧 [email protected]
Genetics in Medicine
@gimjournal
Genetics in Medicine, an official journal of @TheACMG Site use policy: bit.ly/gimconduct. Cover image by istockphoto.com user fanjianhua.
Centre for Personalised Medicine, Oxford (+ bsky)
@cpmoxford
The CPM is a partnership between @HumanGeneticsOx and @StAnnesCollege. We provide a focus for multidisciplinary communication, engagement and research.
Tobias Bartolomaeus
@tomaeusto
MyGene2
@mygene2
mygene2.org - Uniting families, clinicians, and researchers for rare disease discovery
Stefan Barakat
@stefanbarakat
Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care
Alexander Hoischen
@ahoischen
Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
Lochmüller Lab
@lochmullerlab
Hanns Lochmüller's research lab in Ottawa, Canada. Clinical and basic research in neuromuscular and rare disease. Tweets by Hanns and team.
#NGSchool
@ngschooleu
💻🧬 NGSchool2025: Sequencing Toolbox for Computational Biologists 📅 Spring 2025! 💻 Sharing expertise in NGS data analysis and Bioinformatics ⤵️ Register now!
Sarah Vergult
@svergult
Assistant Professor at the Center for Medical Genetics Ghent, Ghent University - elucidating the genetics of rare diseases. Mom of two. Go and follow @FunGenLab
ERDERA
@erdera_org
The European Rare Diseases Research Alliance. Co-funded by European Union's @HorizonEU Research & Innovation programme. Views expressed are of authors only.
Juliane Mueller
@julianemueller8
Cellular Myologist at the Dubowitz Neuromuscular Centre, London. Formerly senior research associate in the @HorvathLab at the University of Cambridge
ModelMatcher
@modelmatchernet
ModelMatcher.net helps pair up researchers and physicians around the world to help us better understand and manage rare genetic diseases
Konrad Platzer
@platzer_k
Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Irene Norstedt
@irenenorstedt
Director @EU_Commission 🇪🇺 'People: Health & Society' Directorate, DG Research & Innovation @EUScienceInnov @HorizonEU #EUHealthResearch #UnionOfEquality
Francesca Magrinelli
@framagrinelli
MD, PhD. Consultant Neurologist, National Hospital for Neurology & Neurosurgery. Senior Clinical Research Fellow, Dept Clinical & Movement Neurosciences @UCLIoN
Shubhankar Londhe
@sg_londhe
PhD student in Computational Biology at @gagneurlab
Cas van der Made
@casvdmade
PhD-student with a focus on immuno-genomics Resident in Internal Medicine
Sarah Weckhuysen
@sweckhuysen
Neurologist, Epileptologist at University Hospital Antwerp VIB-CMN Staff Scientist Applied&Translational Neurogenomics Group
Helger Yntema
@helgeryntema
Head of Genome Diagnostics laboratory, Radboudumc Nijmegen
Elisa Cali
@elisacali_
Medical Doctor, PhD candidate @ UCL Queen Square Institute of Neurology, interested in pediatric neurodegenerative and neurodevelopmental disorders
OD4RD Project
@orphacodes
The OD4RD project builds on Orphanet's specific expertise and on its network to support the implementation of ORPHAcodes in health systems in a standardisez way
Gaetan Lesca
@gaetan_lesca
Medical geneticist (MD, PhD) interested in epilepsy and other neurodevelopmental disorders. University hospital of Lyon and Claude Bernard University Lyon 1.
DerCodeDesLebens
@codedeslebens
Hier twittert das @ghga_de Team über unseren Podcast und mehr. @barbara_strobl(bs), @janika_kiltz(jk), @its_JPhilipp(jp) und @immunoblogist(ut).
Ana Rath
@anarath63
Thiloka M
@lankanmiller
Academic Clinical Lecturer in Paediatrics/ EoE Trainee research network lead/ needs many more hours in my day.
Australian Functional Genomics Network
@afgnetwork
"Match-making" clinicians and model organism researchers to improve understanding of the genetic basis of rare disease.
Manchester Rare Conditions Centre
@mft_imrare
Official Manchester Rare Conditions Centre account. Improving lives of people with rare conditions
Institut für Humangenetik 🧬 | Uniklinik Leipzig
@hug_leipzig
Das Institut bietet genetische Diagnostik & ambulante Beratungen an. Zudem erfolgt Forschung zu seltenen Erkrankungen & studentische Lehre am @UKL_Leipzig.
Carla Oliveira’s Lab
@coliveiralabi3s
Mentally in gastric cancer, genetics, iPSCs, bioinformatics, chromatin architecture, organoids Physically @i3S_UPorto
Reza Maroofian
@rmaroofian
Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Neurogenetics & Genomic Medicine.
Nicolas C
@nlpcasadei
Tanya Stojkovic
@tanya_stojkovic
Neurologist Head of the Reference Center for Neuromuscular diseases-Pitié Salpêtrière Hospital Past President of the Francophone Peripheral Nerve Society
Dermaut Lab
@dermautlab
Neurogenetics - Center for Medical Genetics - Ghent University and Ghent University Hospital Fund Alzheimer and Neurodegenerative Disorders
Hatice
@htasan_
The Neurogenetics Lab @IonSynapse 🧬👩🏻🔬 🧠
Marc Hanauer
@marc_hanauer
Ingénieur de Recherche @inserm. Rare diseases @Orphanet
MICHELA ORI
@michelaori
Elke Bogaert
@elke_bogae16146
Hertie-Zentrum für Neurologie
@hihtuebingen
This account is inactive, find the Hertie Institute for Clinical Brain Reasearch on LinkedIn or Bluesky 🦋 👉 bsky.app/profile/hih-tu…
eshg_young
@eshg_young
European Society of Human Genetics-Young Committee
Alexandre Reymond
@alexreymondeshg
Human geneticist, Prof at the Center for Integrative Genomics, University of Lausanne, chair of the ESHG scientific program committee
Rare Diseases: Models & Mechanisms Network
@rdmm_social
The Rare Diseases: Models & Mechanisms Network has been established to catalyze connections between people discovering new genes in patients with rare diseases
Laura Valle
@lvalleresearch
Cancer Genetics, Hereditary Cancer, Colorectal Cancer.
ern euro_nmd
@euro_nmd
Building bridges and breaking barriers in rare neuromuscular diseases.
ERN-ITHACA
@ernithaca
European Reference Network on congenital malformations and rare intellectual disability (ERN-ITHACA).
Kris Vleminckx
@krisvleminckx
Cell and Developmental Biologist @Ghent University | Xenopus aficionado | Human genetic disease modeling | Cancer and Rare Diseases
EpiCARE
@epicare_ern
European Reference Network for Rare and Complex Epilepsies. We are 50 specialist hospitals in 24 European countries with expertise in epilepsy & research.
Filippo Del Bene
@filodelbene
Christel Depienne
@christeldepienn
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNA | 🦋@christeldepienne.bsky.social
@ERN_RND 🧠
@ern_rnd
European Reference Network for Rare Neurological Diseases (ERN-RND) to improve diagnosis, care & treatment of RND patients. Free webinars: bit.ly/33mMY4C