Educational Resources

Tuesday June 21st -2022 from 17h -18h30 ERN-ITHACA Webinar #4: “How and why getting involved in ITHACA as an EPAG” Program Welcome and Introduction, and get to know each other Pr Laurence Faivre (Dijon Hospital, FR) Mrs Dorica Dan (Chair Patient Council, RO) Round table short presentation “Short pitch 1mn” Patient engagement & Patient Advocacy […]

Program Welcome and Introduction on SOLVE-RD Pr Laurence Faivre (Dijon Hospital, FR) Dr Lisenka Vissers (Radboud university medical center Nijmegen, NL) The impact of SOLVE-RD ClinVar-based reanalysis of unsolved cases from the ERN-ITHACA, Dr Anne-Sophie Denommé-Pichon (Dijon Hospital, FR) Novel gene discovery and functional follow-up RDMM, Dr Elke de Boer Radboud university medical center Nijmegen, […]

Epigenetic signatures in syndromesFundamental phenotypes in Mendelian neurodevelopmental disorder Presented by Bekim Sadikovik, PhD London Health Sciences Centre – UK EuroDysmorpho, 2021. Online 31st Edition

Discover this two-part webinar in which Dr. Gijs Santen and Pr. Peter Robinson are presenting their two collaborative projects.

This webinar is dedicated to adult and aging within Intellectual Disability, standardized geriatric assessment and care.

Step 1 Introduction Step 2 The Questionning Patient/Parents Step 3 Family History Step 4 Personal Medical History Step 5 Clinical Examination & Phenotyping Step 6 Paraclinical Examination Step 7 Proposal of Genetic Testing Step 8 Results of Genetics Testing

How and why should we examine the intellectual disability causes? Défiscience – Filière Nationale de Santé : Maladies Rares du Développement cérébral et Déficience Intellectuelle : https://www.defiscience.fr/filiere/ AnDDI-Rares – Filière Nationale de santé : Filière de Santé Anomalies du Développement avec ou sans Déficience Intellectuelle de causes Rares : http://AnDDi-RaresAnDDI-Rares FAI²R– Filière Nationale de santé […]

Made for any professionals who must assist in the identification and guidance of patients suspected of neurodevelopmental disorders. It is a real training tool based on real clinical cases, with validated materials such as medical reports, quizzes and resources to complete the training. It takes 1 hour of learning per situation, or 3 hours to […]

A short animation explaining reciprocial chromosomal translocation Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children’s Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children’s University Hospital, Temple Street. Dr Sally Ann Lynch, Consultant Clinical Geneticist, Author of these videos is a member of the […]