Overview
Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.
Eligibility
Inclusion Criteria:
Patient :
- Child or adult affected by a rare disease and with an identified variant in a candidate gene whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
- Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
- Patient Affiliated to the French social security system.
- Patient consent form or legal representative consent form obtained.
Patient's parent :
- Parent of a patient affected by a rare disease and with identified variant in a candidate gene whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
- Parent included in the BaMaRa database.
- Parent affiliated to the French social security system.
- Parent consent form obtained for himself/herself.
Patient's brother or sister :
- Brother or sister of a patient (underage or adult) affected by a rare disease and with identified variant in a candidate gene whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
- Brother or sister included in the BaMaRa database.
- Brother or sister affiliated to the French social security system.
- Brother or sister consent form obtained for themselves or from their legal representative.
Exclusion Criteria:
- Poor understanding of the French language
- Legal of administrative liberty deprivation
- Psychiatric force care