IRDiRC’s Diagnostic Scientific Committee (DSC) plays a critical role in identifying and addressing current and future bottlenecks to rare disease gene discovery and diagnosis. As we work towards improving rare disease diagnosis globally, the DSC is currently seeking to expand its membership by welcoming a rare disease diagnostic expert from Africa or Latin America and a…
This year’s World Duchenne Awareness Day (WDAD) theme is Duchenne: Breaking Barriers. WDAD supports creating a society that provides equal opportunities for all. This year is the 10th edition! People living with Duchenne and Becker muscular dystrophy (DMD/BMD) face physical, healthcare and social barriers. This severely limits their ability to participate fully in community life and activities. …
DATE & VENUE The conference will be a hybrid event (in person and online streaming).Where: Ljubljana, Slovenia, Hotel SlonWhen: 1st – 2nd June 2023 (CEST) SCOPE The Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work” focuses on Kleefstra syndrome, a rare genetic disorder with app. 1000 diagnosed patients worldwide. Due…