Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression

Study Overview
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Brief Summary
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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.

Official Title
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Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression

Conditions
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Psychiatric Disorder

Intervention / Treatment
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* Genetic: study of the transmission of genetic variants


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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 Criteria: 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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Interventional Model Description: 2 groups of subjects are enrolled in the study: patients with a mental disorder relatives of patients included
Masking: Single


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Patients<br>Subject suffering from (according to DSM IV criteria) bipolar disorder unipolar depression schizophrenia autism spectrum disorder Collection of hair follicle cells | Genetic: study of the transmission of genetic variants<br>* the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA<br>|
| Other: Relatives<br>Relatives of enrolled patients suffering from psychiatric disorder. test to detect psychiatric disorders blood or saliva sampling for genomic DNA extraction Collection of hair follicle cells | Genetic: study of the transmission of genetic variants<br>* the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Measure of the probability of having a psychiatric disorder given the presence of the genetic variant studied. | Test for psychiatric disorders Study of the genetic variant of interest by sequencing or genotyping on genomic DNA. | through study completion, an average of 5 years |