Many neurological disorders show a strong genetic basis, from hereditary diseases caused by a single mutation in a given gene, to diseases caused by combinations of strong genetic risk factors. However, even after the sequencing of the appropriate genes, a large proportion of patients remains undiagnosed, either because there is no candidate mutation observed, or in case of identification of a candidate mutation with insufficient knowledge to consider it as pathogenic or not.
The aim of this project is to identify the cause of neurogenetic diseases in patients in situations of diagnostic wandering or dead ends by proposing the analysis of RNA and/or proteins from different tissues.
1a. Patient, major or minor, with a neurological disease affecting the central nervous system, who has already benefited from a genomic analysis (panel, exome or genome sequencing) as part of routine care, with inconclusive analysis because the result was either a variation of uncertain significance or the absence of a variant of interest (patients with inconclusive genomic results).
1b. Patient with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls).
A relative of a type 1a. or 1b. patient with no symptoms of the disease, after the expected age of onset of symptoms in the patient's own family (healthy relatives).
Affiliation with a social security scheme
None
Single group
RNA and/or DNA methylation and/or protein analysis
GeneticRNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells
number and proportion of patients
number and proportion of patients in the "Patients with inconclusive results" group for whom a final diagnosis can be made at the end of this research.
Inclusion
Inclusion of at least 50 participants with successful implementation of at least two procedures (see below, list of procedures)
Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
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University Hospital, Rouen
Lead sponsor
University Hospital, Lille
Collaborator
Groupe Hospitalier Pitie-Salpetriere
Collaborator
