CELL LINES AND DNA BANK FROM PATIENTS AFFECTED BY GENETIC DISEASES

The “ Cell lines and DNA Bank from patients affected by Genetic Diseases” is situated at the Diagnosi PrePostnatale Malattie Metaboliche Laboratory of Gaslini Institute and has operated since 1976. To date the collection consists of 2744 specimens (dermal fibroblasts; lymphoblasts; amniocytes, chorionic villous cells and DNAs) derived from patients due to more than 200 different genetic defects. Samples, without a precise diagnosis, have been collected and stored for diagnostic purpose. The collection of the specimens is established with the following aims:  for patients and their families (retrospective diagnosis, reassessment of the patients on the basis of recent scientific acquisitions, availability for prenatal diagnosis, identification of carriers);  for research purpose (identification of new genetic defect, epidemiological study, therapeutical approach).  to be able to use in vitro models for studying genetic diseases  to provide rare mutant cell lines in a specialised laboratory, national and international. The data concerning the patients are collected in a continuously updated bank database. We intend to publicise some information kept in the data bank through a specific Internet site (according to privacy law). The availability of such a rich database could make it possible to take advantage of the experience of external researchers that, querying the database at our web site could access the group of undiagnosed patients to investigate with the goal of characterising and identifying new pathologies.