Webinar

Download the powerpoint presentation here.

Program of the webinar

Pr Damien Sanlaville (ERN ITHACA), Service de génétique, Hôpital Femme Mère Enfant, Lyon (FR), will provide an introduction to the topic. Following this, Dr Bruno Ranchin (ERN ERKNet), Pediatric Nephrology Department, Hôpital Femme Mère Enfant, Lyon (FR), will give an overview of the nephrological aspects of the syndrome. Dr Giovanni Mosiello (ERN eUROGEN and WG leader of SBoD ERN ITHACA), Pediatric Urologist, Ospedale Pediatrico […]

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, […]

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.