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Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
Sponsor: University Hospital, Rouen
Summary
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
95
Start Date
2025-01-15
Completion Date
2031-01-15
Last Updated
2025-05-02
Healthy Volunteers
Yes
Conditions
Interventions
RNA and/or DNA methylation and/or protein analysis
RNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells
Locations (1)
Rouen University Hospital
Rouen, France