L’exercice en Contexte de Maladies Rares (Practicing Exercise in the Context of Rare Diseases) – Symposium at CSEP2024
Myogenesis Discussion Group Seminar | Decoding Muscle Loss: Cardiac Cachexia, tRNA Dysregulation, and Muscle Atrophy Pathways
Knowledge Exchange Session of the NMD4C Community of Practice for physiotherapists and occupational therapists
Spinal Muscular Atrophy Outcome Measures Workshop (English Language)
CPD-Accredited Webinar | Neuromuscular Mystery Case Rounds: A Distal Dilemma: Case Study of a Young Woman with Weakness in Hands and Feet
Solve-RD Public Symposium: The Impact of Solve-RD on Research & Care of Rare Disease Patients
Join Solve-RD at their public symposium to learn about the impact of the Solve-RD project on Research and Care of Rare Disease Patients.
Programme
Towards the future of rare disease diagnostics
01:30 AM – 03:15 AM EST | Chair: Ana Rath
Keynote lecture: Towards a personalised systems biomedical approach for the diagnosis of inherited metabolic diseases
Ines Thiele, University of Galway
Keynote Lecture: Hyperpersonalized therapies for the long tail of genetic disease
Timothy Yu, Boston Childrens Hospital & Harvard Medical School
Looking further: Patient organizations and advancing RD research on diagnosis
Gulcin Gumus, Eurordis
SOLVE-RD 2.0
Olaf Riess, University of Tübingen
Impact of Solve-RD on research & care of rare disease patients
03:45 AM – 05:30 AM EST | Chair: Han Brunner & Holm Graessner
Key SOLVE-RD achievements
Holm Graessner, University of Tübingen
Genomics reanalysis of a pan-European rare disease resource yields >500 new diagnoses
Alex Hoischen, Radboud UMC & Sergi Beltran, CNAG-CRG
Round Table: The future of rare disease diagnostics in Europe
Simona Bellagambi, Eurordis | Daria Julkowska, INSERM | Christina Kyriakopoulou, European Commission, DG Research & Innovation | Milan Macek, Charles University Prague | Olaf Riess, University of Tübingen | Lisenka Vissers, Radboud UMC | Timothy Yu, Boston Childrens Hospital & Harvard Medical School