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Genetic analyses conducted on patient with psychiatric disorders assessed at the expert centres resulted in the identific action of genetic variants associated with psychiatric disorders (Courtois, 2020). These data require further genetic and functional analyses. The first objective of this study is to investigate the disease-related inheritance of genetic variants in the families of individuals in whom these variants have been identified. The second objective is to explore the functional consequences of disease-associated genetic variants in patients cells and those of their relatives with and without these variants. The present project aims to enrich existing biocollections with DNA from blood or saliva from relatives of patients identified with genetic variants. In addition, we wish to collect hair follicules from patients with identified genetic variants of interest and their family members who wish to participate in the study. These hair samples with SNA will be used to dedifferentiate the isolated cells into induced pluripotent stem cells (IPSCs), and then to differentiate them into cells expressing the gene of interest, such as neurons or astrocytes, or into more complex systems, such as brain organoids.
Age
18 - No limit years
Sex
ALL
Healthy Volunteers
Yes
Hopital Albert Chenevier
Créteil, France
Start Date
March 15, 2023
Primary Completion Date
September 15, 2027
Completion Date
September 15, 2028
Last Updated
April 23, 2024
50
ESTIMATED participants
study of the transmission of genetic variants
GENETIC
Lead Sponsor
Fondation FondaMental
NCT01778504
NCT07417813
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