Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

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.

Inclusion Criteria:

Patient :

• Child or adult affected by a rare disease 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 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 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