Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression
Fondation FondaMental
50 participants
Mar 15, 2023
INTERVENTIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria13
- For patients:
- Subjects suffering from (according to DSM IV criteria) : Bipolar disorder, Unipolar depression, Schizophrenia, Autism spectrum disorder
- Age over 18 years
- Subject affiliated to the social security system
- Including patients under guardianship, curatorship,
- Patients included in the Fondation FondaMental cohort whose genetic analyses have revealed the need for comparative and functional genetic studies.
- Having signed the consent form
- For relatives :
- Age over 18 years
- Relative of patient included in the Fondattion FondaMental cohort
- Including relative under guardianship, curatorship
- Having signed the consent
- Affiliated to social security
Exclusion Criteria4
- For all subjects:
- Any condition that, in the opinion of the investigator, would make the subject's participation in the study undesirable or that would compromise compliance with the protocol
- Persons deprived of liberty
- Inability to understand French
Interventions
the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA
Locations(1)
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NCT05480826