Psychiatric Disorder
Conditions
Brief 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.
Interventions
GENETICstudy of the transmission of genetic variants
the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA
Sponsors
Fondation FondaMental
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
SINGLE (Outcomes Assessor)
Intervention model description
2 groups of subjects are enrolled in the study: * patients with a mental disorder * relatives of patients included
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measure of the probability of having a psychiatric disorder given the presence of the genetic variant studied. | through study completion, an average of 5 years | Test for psychiatric disorders Study of the genetic variant of interest by sequencing or genotyping on genomic DNA. |
Countries
France
Contacts
Primary ContactStephane JAMAIN, PhD
Outcome results
None listed