In compliance with current health regulations, we have chosen to maintain our annual scientific symposium initially planned at the Collège de France in the form of a virtual symposium, with an adapted program.
We wanted to keep the main objective of this event, which is to promote exchanges and sharing of experiences with research actors.
During the program, there will be ample time for questions after each presentation.
During the breaks, it will be possible to exchange with the authors of posters in virtual rooms dedicated to specific themes, as well as with the speakers of sponsored communications on stands.
Program:
9:30 am - Opening of the conference
- Jean-Louis MANDELPresident of the Rare Diseases Foundation
- Philippe BERTA, Member of Parliament for the Gard region, President of the National Assembly's study group on rare diseases
10 a.m. - 12 p.m.
Session 1: Making research in the humanities and social sciences a reality
Moderator: Marcela GARGIULO
- Charlotte JACQUEMOT*, Paris
The contribution of psycholinguistics in the monitoring of neurodegenerative diseases: the example of CATEX, a linguistic biomarker in Huntington's disease - Sophie DALLE-NAZEBI*, Paris
Accessibility and ethics of interdisciplinary research with people with hearing and visual difficulties - Annagrazia ALTAVILLA, Marseille
Secondary use of pediatric data for research purposes towards new governance models - Bruno DETOURNAY*, CEMKA Eval
Estimating the economic burden of rare diseases: a challenge
12:00-13:30 Break: Lunch and Posters Session
1:30-3:30 pm
Session 2: Innovating for tomorrow's therapies
Moderation: Daniel SCHERMAN
- Dominique VINCENT-GENOD, Lyon
Evolution of the Motor Function Measurement for children with neuromuscular diseases: presentation of the MFM-Play project and pilot study - Tuan N'GUYEN, GoLiver Therapeutics, Nantes
Liver regenerative medicine with pluripotent stem cells - Justine BACCHETA, Lyon
Revolution in genetic hyperoxaluria: from liver/kidney transplantation to subcutaneous injections of interfering RNA
◊ Presentation of the Alnylam Award
Sponsored communications
- Valérie RIZZI-PUECHAL, Director of the Rare Disease Group at Pfizer
Working together to innovate for rare diseases - Mohamed BOUDISSA, Director of Medical Affairs, Boehringer Ingelheim,
Boehringer Ingelheim's commitment to rare diseases - Jacques VOLKMANN, Vice President R&D France, Sanofi
Bioproduction of drugs: challenges for treatments in rare diseases
15:30-16:00
Break: Meeting with the industry and Posters Session
16:00-17:30
Session 3. Developing the diagnostics of the future
Moderator: Damien SANLAVILLE
- Vincent CANTAGREL*, Paris
Deregulation of the inositol phosphate pathway causes pontocerebellar hypoplasia - Artem KIM*, Rennes
Synonymous variants and codon usage bias: impact on Sonic Hedgehog in holoprosencephaly - Sylvie MAZOYER*, Lyon
RNU4ATAC minor spliceosome mutations cause ciliary anomalies - Christel DEPIENNE*, Essen, Germany
Diagnosing genetic diseases with non-coding expansions: the example of familial myoclonic epilepsy. - Agnès BLOCH-ZUPAN*, Strasbourg
Artificial intelligence in the diagnosis of rare oral diseases - Gisèle BONNE, Paris
Solve-RD: a European project aiming to reduce diagnostic wandering.
Closing of the conference
* winners of the Rare Diseases Foundation