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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
95
RNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells
Rouen University Hospital
Rouen, France
RECRUITINGnumber 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.
Time frame: through study completion, an average of 5 years
Inclusion
Inclusion of at least 50 participants with successful implementation of at least two procedures (see below, list of procedures)
Time frame: through study completion, an average of 5 years
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.
Time frame: through study completion, an average of 5 years
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