Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

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.