Annual Scientific Symposium "Issues and Challenges in Rare Disease Research

This event has already taken place, but you can still consult some information.

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.


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

Break: Meeting with the industry and Posters Session

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