CELL LINES AND DNA BANK FROM PATIENTS AFFECTED BY GENETIC DISEASES

The availability of samples represents the primary resource for multidisciplinary investigations making possible scientific breakthroughs which underlie early diagnosis, prevention, and therapies for diseases, now incurable with our present knowledge. The “ Cell lines and DNA Bank from patients affected by Genetic Diseases”, situated at the Diagnosi Pre-Postnatale Malattie Metaboliche Laboratory of “G. Gaslini” Institute has operated since 1976 and is extensively utilised by research scientists around the world. To date the collection consists of 2847 specimens (dermal fibroblasts; lymphoblasts; amniocytes, chorionic villous cells and DNAs) derived from patients due to more than 200 different genetic defects. A devoted web site for the Bank is now accessible at “Gaslini” home page, http://www.gaslini.org/labdppm.htm, where information about the Bank and the diagnostic services of the laboratory are available. 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.