Reference:
ANRn.a.6-CEBSn.a.006
Abstract:
GLOBAL PROJECT SUMMARY CRB – General Presentation of the project The cell bank AP-HP (Assistance Publique – Hopitaux de Paris) of the Cochin hospital located in the Department of Biochemistry and Molecular Genetics (Cassini Hall) was established in 1992 in partnership with AFM (French Association against Myopathies). Bank of AP-HP cells Cochin is open to the medical and scientific community structure whose mission is to ensure the establishment, storage in liquid nitrogen, maintenance and enrichment of collections lymphoblastoid lines patients (and their families) with rare monogenic diseases, but also polygenic diseases. Currently, the bank occupies an area of 225 m2 and has the equivalent of 4 full-time (3.5 engineers / technicians a secretary part-time) whose activities are supervised by a senior physician and biologist. The bank tends to operate according to the standards GBEA (Guide for Performance Analyses) and has set the goal of reaching international standards allowing it ?obtain certification of its collections. ?The entire collection of the bank account today ?Today over 40,000 lymphoblastoid lines that have helped generate unlimited quantities of biological materials including cell restitution was for several hospital teams and research of critical logistical support for the diagnosis and genetic counseling for genetic diseases ( muscular dystrophies, neurodevelopmental diseases, retinal diseases, diseases of the endocrine system), the search for new genes involved in rare diseases (several tens of genes have been discovered through research conducted from lines provided by the bank) and the identification of genetic susceptibility factors in polygenic diseases (diabetes, mental disorders and psychiatric diseases). Besides lymphoblastoid lines that ?s contribution to the diagnosis and genetic research has been and remains indisputable, the bank has developed for about a year, the establishment of primary cultures of fibroblasts and myoblasts in patients with genetic diseases in order to facilitate a maximum of teams, the availability of more relevant and adapted biological resources in research projects the pathophysiology and therapeutic areas, including ex vivo validation of novel therapeutic approaches. The extension of the bank’s activities in primary cultures has led to the development of new projects oriented therapeutic approaches, particularly in the fields of neuro-dystrophinopathies and developpmentales diseases respectively related to mutations in the dystrophin gene and MECP2 (involved in Rett syndrome). SUMMARY GLOBAL PROJECT CRB – Nature collections, gait QA system information Bank of cells AP-HP Cochin essentially comprises collections of lymphoblastoid cell lines maintained in duplicate in liquid nitrogen ? . The lines are established after consent from lymphocytes and each collection is a disease (or group of diseases) monogenic or polygenic. These collections (> 50 collections) are conducted at the request of researchers or teacher-researchers ?either as part of research projects or for diagnostic applications. More recently, and for about a year, the cell bank has begun establishment of collections of primary fibroblast cells and myoblasts from biopsies of skin or muscle of patients with genetic diseases. For cultures from biopsies of muscle, steps typing fluorescent cytometry and cell sorting are done and sorted and unsorted cell preparations were stored in liquid nitrogen.
PROJECT DETAILS
beginning: 2006.
end: 2008.
Country of research: France
Counry of funding source: France
Funding organization: The French National Research Agency
Financing: NATIONAL FUNDINGS – 88 000 €