Full Program
RE(ACT) Congress & IRDiRC Conference 2023
This program is subject to change without notice at any time.
WEDNESDAY, MARCH 15th
Session A, 13h30 to 17, « Diagnostic, WGS, artificial intelligence, new technologies »
- Martina Cornel, NL « Sequencing for early diagnosis in neonatal screening and health care »
- Julia Foreman, UK « DECIPHER – Enabling the sharing of rare disease phenotype-linked variant data for diagnosis and research »
- Clara van Karnebeek, NL
- Pierre-Emmanuel Gleizes, FR
- Tudor Groza, UK « Rare disease patient stratification in primary care: Challenges and opportunities »
- Kym Boycott, CAN
Poster Session A 17 to 18
Opening Ceremony, 18 to 19h30
- Welcome message: Daria Julkowska (EJP RD), David Pierce (IRDiRC), Olivier Menzel (BLACKSWAN Foundation)
- Ruxandra Draghia-Akli, USA
- Gareth Baynam, AU
THURSDAY, MARCH 16th
Session B, 9 to 12, « Therapeutic Development, innovative clinical trials, precision medicine »
- Marc Dooms, BE & Anneliene Jonker, NL « Devise – ways forward for medical devices for rare diseases »
- Tim Buckinx, BE
- Lucia Pannese, IT « Why Me? Tackling the Challenge of Rare Diseases through Gamification and Enabling Technologies »
- Jose-Alain Sahel, USA « Developing Gene-Independent Approaches for Retinal Dystrophies »
- Paulien Klap, NL « Developing an arm exoskeleton with the Duchenne Muscular Dystrophy community »
Lunch break and poster sessions B & C 12 to 13h30
Session C, 13h30 to 17, « Regulatory science »
FRIDAY, MARCH 17th
Session D, 9 to 12, « Clinical research »
Lunch break and poster sessions D, E & F 12 to 13h30
Session E, 13 to 17, « Gene and cell therapy »
- Guillaume Canaud, FR « Targeted therapy for patients with PIK3CA-related overgrowth spectrum »
- Laura de Rosa, IT « Combined cell & gene therapy for Epidermolysis Bullosa »
- Arjan Lankester, NL « Lentiviral gene therapy in RAG1 severe combined immunodeficiency: experience from the multicenter RECOMB trial »
- Fernardo Larcher, ES « Advances in cell and gene therapy for genodermatoses. A focus in Epidermolysis Bullosa. »
- Carl Morris, USA
- Julia Vitarello, USA
Social event, 18h30 To be confirmed
SATURDAY, MARCH 18th
Session F, 9 to 12, selected oral presentations and “Patients engagement and treatment access »
Best posters prize & Closing Ceremony
Program updated January 27, 2023