Event Published June 18 2012
Open / close summary

The annual meeting of late revelation diseases pre-symptomatic and prenatal centers took place on June 8th in the Institut du Cerveau – ICM auditorium.


A lot of genes involved in late revelation of hereditary diseases like Huntington disease, Creutzfeld-Jacob, Parkinson, Alzheimer or similar, have been identified. It allows to descendants of people who are concerned to ask for genetic test in order to know their genetic statement in spite of disease symptoms.
A specific care plan consists in a global approach and supports its efficiency on professional actors who are in charged.


In France, the first consultation has been set up in La Salpêtrière hospital since 1992 with Josué Feinglod, Alexandra Dürr and Marcela Gargiulo. According to legal aspect, multidisciplinarity has been imposed in hospital centers with the June 2000 law.
More than one hundred professionals were present : geneticians and psychiatrists, neurologists, psychologists, genetic advisors and obstetricians.
Alexandra Dürr, doctor and neurogenetician searcher of Institut du Cerveau – ICM Research Center and Marcela Gargiulo, psychologist, are especially involved and organized this event.


The main objective of these meetings is to optimize :
– the different actors cooperation in order to better address psychologic and familial consequences of presymptomatic diagnostic,
– the physiopathologic research implications for people presenting genetic disorders without symptoms.


For now, the scientific research is about identifying preventive treatments in order to stretch disease-free period. Finding such treatments is a major challenge for next years.