ERN-ITHACA @ERNIthaca
European Reference Network on congenital malformations and rare intellectual disability (ERN-ITHACA). ern-ithaca.eu Joined September 2017-
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Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter? @ERNIthaca @MariaCaples74 ojrd.biomedcentral.com/articles/10.11…
Also this year the @eshg_young collaborated with @ERNIthaca for the #EuroDysmorpho conference in Ljubljana, Slovenia. Abstract submission is open until Friday 26th April. We are looking forward to your contribution! 🧬👩🔬 Further information here: ern-ithaca.eu/events/eurodys….
@eurordis Webinar: Approaches to the Evaluation of Evidence for Rare Disease and Complex Conditions Guidelines. Already next Monday 29th April info & Registration: erica-rd.eu/event/approach…
Join the next @ERN_eUROGEN, OMNI-Net Ukraine & @ifsbh webinar supported by @ERNIthaca: 🖥 Spina Bifida Physical Rehabilitation - Points to Know 👥 Gessica Della Bella & Jane Leonard 📅 Thu 18 April @ 1800 CET 🔗 bit.ly/ERNeUROGEN18Ap… #UroSoMe #PedUro #SoMe4PedSurg #SBoD
End of meeting...8 of us from Ireland. Lovely to meet our EU colleagues @ERNIthaca
@FranceinIreland @vincentguerend @TheWayfinding @Vision_Irl @Airbus @Transdev @Alstom @airfrance @Dept_ECC @dcediy @rodericogorman @EamonRyan @francediplo_EN This is nice to hear, especially whilst attending @ERNIthaca neurodevelopment meeting with all my EU colleagues. Improving inclusively on public transport...
Honoured to have been a speaker at the opening session of #EuroNDD24 Workshop this morning. Grateful for the opportunity to discuss advancements in neurodevelopmental disorders. #EuroNDD @ERNIthaca
Honoured to have been a speaker at the opening session of #EuroNDD24 Workshop this morning. Grateful for the opportunity to discuss advancements in neurodevelopmental disorders. #EuroNDD @ERNIthaca
@ERNIthaca NDD meeting Lisboa. The Irish contingent buoyant & strong. Gaillimh agus BAC, Corcaigh, Luimneach, cá bhfuil sibh?
@EuroNDD @ERNIthaca Great workshop at the end of the day! Facing the challenges of healthcare networks! 💪 clinicians, non-clinicians and patients!
#CIBIT_UC researcher @susanamouga joined the #EuroNDD, sharing valuable insights on the role of a comprehensive and ecological approach to unravelling autism and neurodevelopmental disorders. 📸 @ERNIthaca #autism #EuroNDD24
✈️ to Lisborn for #EuroNDD24 workshop on rare neurodevelpmental disorders‼️ Flight delayed but hope to make it for my 15 pm platform presentation on natural history of #KBG syndrome 😅 Stay tuned for what happens 🤞 @b_elked @ERNIthaca @drkarenlow #NeuroTwitter #genetics
First day of the ITHACA #EuroNDD workshop in Lisbon, the first European workshop dedicated to rare NDDs!
@mackeithpress @ProfBernardDan @ERNIthaca apt article for today's NDD conference in Lisbon
“Operation IDD Gene Team.” @ERNIthaca @raisingrareness jneurodevdisorders.biomedcentral.com/articles/10.11…
Young #geneticists, join us for an enlightening #webinar organized by @eshg_young & @ERNIthaca. Dr. Ciaran Hutchinson, @ian_simcock & @CelineLewis23 will delve into "Non-invasive fetal autopsy as an alternative to traditional postmortem examination" on Mar 19th 2024, 17h CET. 1/2
3rd scientific meeting on #KBG syndrome. Wednesday 13th from 17-20 pm CET‼️ Great opportunity for the latest update on KBG syndrome‼️ Email @GholsonLyon for a link to join the online summit👇 @b_elked @drkarenlow @ERNIthaca @eurordis @KBGFdn @KBGSyndrome @CheckOrphan
Call for collaboration on #MSMO1 deficiency. Please contact us if you have patients with homozygous/biallelic variants @SofiaDouzgou @KakhaBregvadze @GunnarHouge @ERNIthaca ern-ithaca.eu/for-clinicians…
STILL TIME TO REGISTER! Next week! Free Educational webinar - Wed 13 March 2024 5pm CET - Normal and abnormal cortical development in the prenatal period To register: us02web.zoom.us/webinar/regist…… @ERN_RND @flicna @senep_es @eacdonline @EJPNeditor @ERNIthaca
Up to 36M people in the EU live with a rare disease. The European Reference Networks #ERNs offer patients with rare diseases better access to diagnosis and treatment. On #RareDiseaseDay, read our interview with their coordinator to learn more: hadea.ec.europa.eu/news/rare-dise…
Today is rare disease day. Help us to raise awareness and support towards a better tomorrow for people with #RareDisorders‼️ @EpiCARE_ERN @ERNIthaca @rarediseaseuk @rarediseaseday @CheckOrphan @drkarenlow @KBGFdn @rarediseasefdn @RareBeacon @eurordis @TorieRobinson10
EURORDIS-Rare Disease.. @eurordis
32K Followers 2K Following An alliance of over 1,000 patient organisations working across borders and diseases to improve the lives of all people living with rare diseases.
Rare Disease Day @rarediseaseday
44K Followers 3K Following 29 February 2024 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are affected by rare diseases. #RareDiseaseDay
EJP RD - European Joi.. @EJPRareDiseases
4K Followers 2K Following #EJPRD - European Joint Programme on Rare Diseases | RTs shares likes ≠ endorsement
EpiCARE @EpiCARE_ERN
3K Followers 468 Following European Reference Network for Rare and Complex Epilepsies. We are 50 specialist hospitals in 24 European countries with expertise in epilepsy & research.
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Orphanet @Orphanet
6K Followers 625 Following The reference portal and knowledge base for information on rare diseases and orphan drugs. Orphanet nomenclature, ORPHA codes, Orphanet RD Ontology @inserm
Solve-RD @Solve_RD
2K Followers 403 Following 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.
@ERN_RND 🧠 @ERN_RND
2K Followers 759 Following European Reference Network for Rare Neurological Diseases (ERN-RND) to improve diagnosis, care & treatment of RND patients. Free webinars: https://t.co/nowjhyNigm
Sofia Douzgou Houge @SofiaDouzgou
713 Followers 510 Following Senior Consultant in Medical Genetics @haukeland_no Executive Board member @ernithaca Editor @ClinDysmo Ιδρύτρια https://t.co/QA1ktGzNKS
RDI @rarediseasesint
5K Followers 699 Following Rare Diseases International - the global alliance of rare disease patients & families
VASCERN @vascern
2K Followers 636 Following Gathering the best expertise in Europe to provide accessible cross-border healthcare to patients with rare vascular diseases #ERNeu #RareDiseases
Richarda de Voer @RMdeVoer
466 Followers 546 Following Scientist | Cancer genomics | Human Genetics | Radboudumc | Breda | Dutch
Christel Depienne @ChristelDepienn
960 Followers 844 Following Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | French expat 🇫🇷🇩🇪🇪🇺| Mum of 2
Unique @Unique_charity
8K Followers 2K Following Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. https://t.co/GkIBlYg5c5
Alexander Hoischen @ahoischen
2K Followers 605 Following Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
RarasNoInvisibles @NoInvisibles
54K Followers 8K Following Hablamos de salud, enfermedades raras, inclusion social y biomedicina. Escribe @Sombradoble Mas Información: [email protected]
22Q11 Ireland @22Q11_Ireland
5K Followers 5K Following Parent group raising awareness of #22q Working toward integrated care for 22qDS & individually rare collectively common #RareDiseases. Tweets AnneL CHY 17647
John McDermott @John_H_McD
1K Followers 835 Following NIHR Doctoral Research Fellow in Genomic Medicine | Manchester Centre for Genomic Medicine | Acute Genetics | Pharmacogenetics | Fair Weather Runner
Mohamed Wafik @mo__wafik
25 Followers 437 Following 🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics | Views are my own 🇬🇧 🇪🇬🔬
Barbarii Teodora @TeodoraBarbarii
25 Followers 78 Following Medical Genetics resident in training. Interested in studying neurodevelopmental disorders and rare neurogenetics diseases #NDDs, #neurogenetics, #rarediseases
Alain Verloes @VerloesAlain
8 Followers 13 Following
Leeanne Tully @Leeanne20201
86 Followers 239 Following CNS Paediatric Complex Disabilities. Mammy to two beautiful kiddos ❤️ RCN/RNID. All views are my own.
Imageenvue-prod @IMAGEenVUEprod
29 Followers 296 Following
World Orphan Drug Con.. @orphan_drugs
580 Followers 309 Following World Orphan Drug Congress Europe | 22 - 25 October, 2024 | Fira de Barcelona Montjuic, Barcelona, Spain
Karin Kenny @smileykicks
42 Followers 319 Following
Susana Mouga @susanamouga
85 Followers 206 Following Psychologist and researcher @Cibit_UC, @UnivdeCoimbra. Bridging the gap between #research and #clinic of #autism
Raramente @Raramente_
0 Followers 14 Following
Sebastian.Sechs4 @SSechs4
359 Followers 5K Following
Erica Torres @EricaTorre40496
7 Followers 171 Following
Arjan Bouman @Dysmorphologist
33 Followers 22 Following Clinical Geneticist @ Erasmus MC The Netherlands
Marco Macucci @macNeuro
793 Followers 354 Following MD, Neurologist, PhD in Pathophysiology of Nerve Functions. Retired but always in learning about rare neurological diseases.
Gabriela Repetto 🧬 @gmrepetto
2K Followers 3K Following Clinical geneticist, working on rare and Undiagnosed diseases. Fac de Medicina, Clinica Alemana U del Desarrollo. Miembro de la Academia Chilena de Medicina
Giusi Giordano @Giusi_pm
0 Followers 64 Following
JARDIN_Joint-Action @jardin_EU_JA
87 Followers 127 Following JARDIN is created to improve the accessibility of the ERNs for people living with rare diseases or complex conditions in EU member states.
Kenya Progressive Nur.. @Kenya_PNA
3K Followers 354 Following KPNA endeavors to create, develop and maintain a comprehensive social framework for championing the rights of its members.
Janay Gramer @JanaGramer
33 Followers 5K Following
Dimitrios Lytras @LytrasMD
52 Followers 411 Following 🩺MS5, NKUA @uoaofficial | 🫀Aspiring Cardiologist | 🎹Amateur musician | Bilingual Posts 🇺🇲 🇬🇷 | Opinions: my own
Dr Martin McMahon @mcmahonm44
891 Followers 2K Following Husband, Dad, Proud Rossie 🇺🇦. Part-time 3rd assistant U7/9⚽Coach! Assistant Prof. at Trinity College @TCD_SNM. Views=mise etc.
Forum Seltene Krankhe.. @ForumSeltene
5 Followers 48 Following Netzwerk zur Unterstützung von Menschen mit seltenen Krankheiten in Österreich.
Karen Low @drkarenlow
106 Followers 152 Following Clinical Geneticist and NIHR PhD fellow. Chief Investigator of GENROC Study. Mum, runner and love being in nature.
UCD Centre for Disabi.. @UCD_CDS
893 Followers 1K Following University College Dublin, UCD Centre for Disability Studies, MSc Disability. Join our programmes: @UCDDublin , @ucdsocscilaw, @UCDPsychology , @UCD_CDS
v pujol blaya @pujol_blaya
21 Followers 48 Following
Wanetta Geng @GengWanett98660
49 Followers 5K Following
Sinéad Cornyn @SineadCornyn
208 Followers 765 Following Doctor 🎓 Singer 🎶 Chocolate-eater 🍫 Irish 🇮🇪 Paediatric Surgery SpR, ST3. Ally. She/her. My opinions are my own.
Brian Muñiz @Muiz134963Brian
128 Followers 783 Following
Nathalie Vanden Eynde @VEyndeNathalie
9 Followers 138 Following
Canadian Rare Disease.. @CanadianRDN
223 Followers 586 Following Pan-Canadian network uniting clinical, scientific and patient experts to improve the health and well-being of individuals affected by rare diseases.
2607STA @2607Sta
1 Followers 38 Following
champs @kejr35778464
237 Followers 2K Following champs ist eine Aktion um Pädiater auf die seltene Erkrankung "Mukopolysaccharidose" (MPS) aufmerksam zu machen.
Joshua Rotenberg MD @BrainSleeps
2K Followers 2K Following Neurology Epilepsy Brain Injury Sleep Disorders - Infants Children Young Adults - Houston - Sugar Land - Seguin /SA. Information & News. http://t.co/rk79tI1XJS
aurora @aurora_dance5
0 Followers 86 Following
Stefano Benvenuti @StefanoBenvenu6
101 Followers 274 Following Public Affairs Manager @telethonitalia, I'm passionate about research that can change the life of people. Views are my own
Cristina R. Reschke @cristinareschke
717 Followers 694 Following Lecturer @RCSI_irl. Epilepsy researcher @futureneuro_ie @chrono_lab. Pharmacist. Past @yesILAE treasurer. Love 🧠🪴📚. Views are my own.
Melissa Kinch @Melissa_Kinch_
156 Followers 430 Following PhD candidate UCD | Child, Adolescent & Family Research | Patient Voice | Rare Disease Research | Registered Children’s & General Nurse | All views are my own
Amanda O’Rourke né.. @Horlickstothat
186 Followers 573 Following Married to Ciarán @doalty SAHM of 2 & carer to 1 with complex needs. Passionate about children’s & adoptees’rights. M&BH adoptee. She/her
Next Steps SLT @NextSlt
1K Followers 1K Following Caitríona Ní C, neurodiversity-celebrating, CORU & IASLT registered, NLA trained Speech & Language Therapist interested in autism & AAC. Learning every day.
laia turon @laia_turon
550 Followers 837 Following Mare i pediatra. Neuropediatra. Intensivista pediàtrica. @PediatriaSPau @HospitalSantPau, Barcelona. #PedsICU, #neuroICU, #epilepsy. Pediatra #HEMS @semgencat
Alessandro Fiorenzano @Fiorenzano555
314 Followers 771 Following human stem cell differentiation and transplantation for brain repair
Michael Carter @SeamusXavi
329 Followers 1K Following Husband to @writingfortiny. Dad of 4. Serendipitous feminist. Paediatric Neurology | PhD | Transition fellow
Mike Taylor @uinseann87
508 Followers 1K Following Mr @long_way_round_ , dad to Henry, 🇮🇪, Consultant Paediatric Neurologist @Leeds_Childrens . Comic book nerd. All views are my own. RT are not endorsements.
EURORDIS-Rare Disease.. @eurordis
32K Followers 2K Following An alliance of over 1,000 patient organisations working across borders and diseases to improve the lives of all people living with rare diseases.
Rare Disease Day @rarediseaseday
44K Followers 3K Following 29 February 2024 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are affected by rare diseases. #RareDiseaseDay
EJP RD - European Joi.. @EJPRareDiseases
4K Followers 2K Following #EJPRD - European Joint Programme on Rare Diseases | RTs shares likes ≠ endorsement
EpiCARE @EpiCARE_ERN
3K Followers 468 Following European Reference Network for Rare and Complex Epilepsies. We are 50 specialist hospitals in 24 European countries with expertise in epilepsy & research.
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Orphanet @Orphanet
6K Followers 625 Following The reference portal and knowledge base for information on rare diseases and orphan drugs. Orphanet nomenclature, ORPHA codes, Orphanet RD Ontology @inserm
Solve-RD @Solve_RD
2K Followers 403 Following 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.
@ERN_RND 🧠 @ERN_RND
2K Followers 759 Following European Reference Network for Rare Neurological Diseases (ERN-RND) to improve diagnosis, care & treatment of RND patients. Free webinars: https://t.co/nowjhyNigm
Sofia Douzgou Houge @SofiaDouzgou
713 Followers 510 Following Senior Consultant in Medical Genetics @haukeland_no Executive Board member @ernithaca Editor @ClinDysmo Ιδρύτρια https://t.co/QA1ktGzNKS
VASCERN @vascern
2K Followers 636 Following Gathering the best expertise in Europe to provide accessible cross-border healthcare to patients with rare vascular diseases #ERNeu #RareDiseases
Richarda de Voer @RMdeVoer
466 Followers 546 Following Scientist | Cancer genomics | Human Genetics | Radboudumc | Breda | Dutch
Unique @Unique_charity
8K Followers 2K Following Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. https://t.co/GkIBlYg5c5
Alexander Hoischen @ahoischen
2K Followers 605 Following Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
22Q11 Ireland @22Q11_Ireland
5K Followers 5K Following Parent group raising awareness of #22q Working toward integrated care for 22qDS & individually rare collectively common #RareDiseases. Tweets AnneL CHY 17647
John McDermott @John_H_McD
1K Followers 835 Following NIHR Doctoral Research Fellow in Genomic Medicine | Manchester Centre for Genomic Medicine | Acute Genetics | Pharmacogenetics | Fair Weather Runner
EU One Health @EU_Health
91K Followers 3K Following The official account of @EU_Commission Directorate-General for Health & Food Safety (SANTE): #OneHealth: connecting health of humans, animals & plants 👤🐾🌱
ERN EuroBloodNet @ERNEuroBloodNet
2K Followers 412 Following ERN-EuroBloodNet aims to improve healthcare and quality of life of patients with Rare Hematological Diseases
Celia Azevedo Soares @csoares_mdphd
350 Followers 700 Following Medical Geneticist MD 🧬 🇵🇹 Neurodevelopment PhD 🧠 🇺🇸 Getting into the world of higher education @UnivAveiro
UCD Centre for Disabi.. @UCD_CDS
893 Followers 1K Following University College Dublin, UCD Centre for Disability Studies, MSc Disability. Join our programmes: @UCDDublin , @ucdsocscilaw, @UCDPsychology , @UCD_CDS
Aurélien Rousseau @aur_rousseau
35K Followers 1K Following Ancien ministre de la santé et de la prévention ; élu de Saint-Hilaire-de-Brethmas, Gard.
Peter Krawitz @KrawitzPeter
555 Followers 593 Following For precision medicine human and artificial intelligence need to join efforts.
Oxford-Harrington Rar.. @OHRareDisease
1K Followers 1K Following Rare Disease Centre @UniofOxford in partnership with @HarringtonDI_UH @UHhospitals, accelerating cures for rare diseases
Joserra @jramonfernandez
46K Followers 5K Following Pediatra neonatólogo. https://t.co/897K7tHbEq Personaje en el libro de la cómica @raquelsastrecom https://t.co/ZkPrV4tjpP
Mari Murel @MariMurel
64 Followers 112 Following Coordinating ERICA project at LUMC/AMC Personal moto: Where there’s a will there’s a way
Bernt Popp @berntpopp
130 Followers 417 Following My scientific interests in human genetics include rare diseases of neuronal development, rare tumors, and the kidney. I particularly enjoy bioinformatics work i
SeqComplete @SeqComplete
5K Followers 3K Following Latest Buzzz in Cutting-Edge #NGS #Genomics #PersonalizedMedicine #PrecisionMedicine #LiquidBiopsy #BioIT #RNASeq #CRISPR #Geneediting #Bigdata
Tika Tkemaladze @TikaTkemaladze
303 Followers 489 Following Clinical geneticist, Head of the Department of Molecular and Medical Genetics, Tbilisi State Medical University, ESHG board member, FDNA scientific board member
Patient Worthy @PatientWorthy
8K Followers 7K Following We're a resource for engaging, informative content and rare patient news, well done.
Center for Human Gene.. @CHG_CME
685 Followers 355 Following Updates from the Center for Human Genetics @UZLeuven & Department of Human Genetics @KU_Leuven.
BNDMR Maladies Rares @BNDMR
1K Followers 130 Following Banque Nationale de Données Maladies Rares, un projet du Plan national maladies rares, financé par la Direction Générale de l'Offre de Soins.
RespiFIL 🫁 @RespiFIL
1K Followers 709 Following Filière de santé des maladies respiratoires rares #maladiesrespiratoiresrares #maladiesrares #filieredesante #rarediseases #FSMR *officiel🐦*
ASHG @GeneticsSociety
52K Followers 323 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
Maladies Rares Info S.. @maladierareinfo
4K Followers 1K Following Service d'information et de soutien spécialisé dans les maladies rares, pour les personnes concernées et les professionnels - n° vert 0800 40 40 43
Fondation Maladies Ra.. @fdmaladiesrares
3K Followers 365 Following Fondation de coopération scientifique | Foundation For Rare Diseases - Foundation for scientific cooperation
Run Like a Hero Phela.. @RunPhelan
145 Followers 538 Following 🦸🏼♀️Iniciativa de eventos deportivos solidarios y de ocio inclusivo en favor de la @Phelanmcdermid. ¡Apúntate! 💚Follow our races! #RunLikeAHero
Dr. Mallory Freeberg @MalloryFreeberg
481 Followers 638 Following 🇺🇸 living in 🇬🇧 | Building Science Communities and Collaborations | Bioinformatics & Metadata Enthusiast | #OpenScience Advocate | she/her
Lisenka Vissers @LisenkaVissers
413 Followers 305 Following Translating genomics to clinical practice for Rare Diseases. All patients with a rare genetic disease deserve a molecular diagnosis! Let’s find those!
ERICA @ERICA_RD_EU
494 Followers 159 Following The European Rare Disease Research Coordination and Support Action
Dorica Dan @DanDorica
111 Followers 266 Following I am Dorica Dan, the founder of RPWA (Romanian Prader Willi Association) in 2003, RONARD (Romanian National Alliance for Rare Diseases) in 2007 and ARCrare .
Sally Ann Lynch @annnlynch
627 Followers 296 Following Geneticist Cyclist Baile Átha Cliath views my own
Orion Buske @orionbuske
504 Followers 366 Following Genomics + software + healthcare; @PhenoTips; standardizing @GA4GH; formerly @MatchMExchange @RareConnect @PhenomeCentral; he/him
PhenoTips @PhenoTips
1K Followers 1K Following The Genomic Health Record unifying and standardizing genetic care, complete with #pedigree drawing, risk assessment, #HPO phenotyping and more.
MOOC - Introduction t.. @MOOCBiG
160 Followers 463 Following Discover genomic medicine, bioanalysis and bioinformatics ! | @AnddiRares @ERNIthaca @UNESSfr @SFMPP_ @lpiparis_ @bioinfodiag
Anna Cueto @AnnaCuetoG
24 Followers 385 Following
Horizon Europe🇪�.. @HorizonEU
181K Followers 2K Following Official DG Research & Innovation account for EU's #HorizonEU research & innovation programme Follow @EUScienceInnov & @lemaitre_eu
CINEA🇪🇺 @cinea_eu
36K Followers 2K Following @EU_Commission European Climate, Infrastructure & Environment Executive Agency #CINEA_EU #EUGreenDeal Data protection https://t.co/O3DcSWlGqL
European Commission @EU_Commission
1.9M Followers 598 Following News and information from the European Commission. Social media and data protection policy: https://t.co/Gz53Net1PO
UMCG Genetica @UMCGgenetica
756 Followers 201 Following UMC Groningen Genetica | Research | Klinische Genetica | Erfelijkheids- en DNA-onderzoek | Onderwijs | Health Data
Filière AnDDI-Rares @AnddiRares
582 Followers 249 Following Filière de santé Anomalies du Développement Déficience Intellectuelle de causes Rares
Peter Turnpenny @PeterTurnpenny
259 Followers 256 Following Clinical Geneticist, Hon Prof Univ Exeter. Love family life, cycling, skiing. Christian ... but no labels.
EATRIS @EatrisEric
3K Followers 2K Following The European Research Infrastructure for Translational Medicine #EU_RI. Supporting research communities translate scientific discoveries into #patient benefit.
ECRIN @ECRIN_ERIC
2K Followers 484 Following ECRIN's mission is to support the conduct of multinational clinical research in Europe
Teresinha Evangelist @TeresinhaEvange
273 Followers 400 Following
European Patients' Fo.. @eupatientsforum
14K Followers 1K Following We are the leading voice of patient organisations in Europe. #EuropeForPatients
AP-HP @APHP
83K Followers 2K Following Bienvenue sur le compte de l'AP-HP, Assistance publique-Hôpitaux de Paris, 1er CHU d'Europe. Nous soignons et innovons 365 jours/an. Nous recrutons ! ⤵
Hôpital Robert-Debr�.. @HopRobertDebre
8K Followers 340 Following Situé dans le 19e arrondissement de Paris, l'hôpital Robert-Debré @aphp prend en charge les problèmes de santé des enfants, adolescents, femmes & futures mères.
RE(ACT) Community @react_community
2K Followers 513 Following Welcome to the RE(ACT) Community, a network to share and boost research on rare diseases #crowdfunding #RAREvolution #REACTCongress - https://t.co/lhYCgq1ADA
IRDiRC @irdirc
3K Followers 2K Following #IRDiRC is a consortium of #RareDisease #research funding agencies n stakeholders. RTs shares likes ≠ endorsement. Account managed by IRDiRC Scient. Secretariat
Alliance maladies rar.. @AllianceMR
4K Followers 2K Following Collectif de 240 associations de malades portant la voix de 3 millions de personnes concernées par 7 000 #maladiesrares en France. Besoin d'aide ? 0800 40 40 43
RASopathies Network @RASopathiesnet
1K Followers 1K Following A 501.c.3 organization; Our mission is to advance research of the #RASopathies by bringing together families, clinicians & scientists. #rarediseases
Heinrich-Heine-Univer.. @HHU_de
9K Followers 835 Following Nachrichten und Infos rund um die Heinrich-Heine-Universität Düsseldorf. Von der offiziellen Redaktion. #HHU https://t.co/7KRNnFTc2S
Foresight in Rare Dis.. @rare2030
1K Followers 466 Following Preparing a better future for people living with rare diseases. For more info [email protected]
Gábor Pogány @poganyg
50 Followers 70 Following
Wilma @WilmaWestenberg
877 Followers 607 Following 29. Dutch. Traveling around the 🌎 to meet others with the same ultra rare condition (#PIK3CA #PROS). Board member @hevas_nl. Fulltime crochet designer.Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter? @ERNIthaca @MariaCaples74 ojrd.biomedcentral.com/articles/10.11…
Also this year the @eshg_young collaborated with @ERNIthaca for the #EuroDysmorpho conference in Ljubljana, Slovenia. Abstract submission is open until Friday 26th April. We are looking forward to your contribution! 🧬👩🔬 Further information here: ern-ithaca.eu/events/eurodys….
@eurordis Webinar: Approaches to the Evaluation of Evidence for Rare Disease and Complex Conditions Guidelines. Already next Monday 29th April info & Registration: erica-rd.eu/event/approach…
Join the next @ERN_eUROGEN, OMNI-Net Ukraine & @ifsbh webinar supported by @ERNIthaca: 🖥 Spina Bifida Physical Rehabilitation - Points to Know 👥 Gessica Della Bella & Jane Leonard 📅 Thu 18 April @ 1800 CET 🔗 bit.ly/ERNeUROGEN18Ap… #UroSoMe #PedUro #SoMe4PedSurg #SBoD
End of meeting...8 of us from Ireland. Lovely to meet our EU colleagues @ERNIthaca
@FranceinIreland @vincentguerend @TheWayfinding @Vision_Irl @Airbus @Transdev @Alstom @airfrance @Dept_ECC @dcediy @rodericogorman @EamonRyan @francediplo_EN This is nice to hear, especially whilst attending @ERNIthaca neurodevelopment meeting with all my EU colleagues. Improving inclusively on public transport...
Have you ever wondered about the name "RASopathies"? 🤓 The RAS part comes from the name of an important group of genes (and their encoded proteins). In the current issue of journal @CellCellPress , Robert Weinberg recounts the origin of discoveries of oncogenes and how it has/
@ERNIthaca NDD meeting Lisboa. The Irish contingent buoyant & strong. Gaillimh agus BAC, Corcaigh, Luimneach, cá bhfuil sibh?
@EuroNDD @ERNIthaca Great workshop at the end of the day! Facing the challenges of healthcare networks! 💪 clinicians, non-clinicians and patients!
Excited to share insights tomorrow at #EuroNDD in Lisbon! Join me in my talk "Unravelling autism and neurodevelopmental disorders: a comprehensive and ecological approach." Let's advance our understanding of neurodevelopment together! #AutismResearch #NeuroScience @ERNIthaca
Honoured to have been a speaker at the opening session of #EuroNDD24 Workshop this morning. Grateful for the opportunity to discuss advancements in neurodevelopmental disorders. #EuroNDD @ERNIthaca
#CIBIT_UC researcher @susanamouga joined the #EuroNDD, sharing valuable insights on the role of a comprehensive and ecological approach to unravelling autism and neurodevelopmental disorders. 📸 @ERNIthaca #autism #EuroNDD24
#CIBIT_UC researcher @susanamouga joined the #EuroNDD, sharing valuable insights on the role of a comprehensive and ecological approach to unravelling autism and neurodevelopmental disorders. 📸 @ERNIthaca #autism #EuroNDD24
@AllanBayat @b_elked @ERNIthaca @drkarenlow @ZeynepTumer_DK @KBGFdn @KBGSyndrome Ditto my flight too...
✈️ to Lisborn for #EuroNDD24 workshop on rare neurodevelpmental disorders‼️ Flight delayed but hope to make it for my 15 pm platform presentation on natural history of #KBG syndrome 😅 Stay tuned for what happens 🤞 @b_elked @ERNIthaca @drkarenlow #NeuroTwitter #genetics
@mackeithpress @ProfBernardDan @ERNIthaca apt article for today's NDD conference in Lisbon
Reimbursement of clinical genome sequencing is about to start in Germany, and here are this quarter's climbers in the #ClinVar charts: Tuebingen, Goettingen, Bonn, Bochum, and Duesseldorf. Congrats! What do you want to see next?
“Operation IDD Gene Team.” @ERNIthaca @raisingrareness jneurodevdisorders.biomedcentral.com/articles/10.11…
Honored to present the data about rare diseases in Georgia's Azerbaijani population at the #GRD24 conference
Young #geneticists, join us for an enlightening #webinar organized by @eshg_young & @ERNIthaca. Dr. Ciaran Hutchinson, @ian_simcock & @CelineLewis23 will delve into "Non-invasive fetal autopsy as an alternative to traditional postmortem examination" on Mar 19th 2024, 17h CET. 1/2
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