DNA, RNA AND CELL LINES COLLECTION FROM INDIVIDUALS AFFECTED BY WILLIAMS-BEUREN SYNDROME AND OTHER GENOMIC DISORDERS

Biobanking is the storage of biological samples such as DNA, RNA and cell lines for possible future use. Because it is likely that testing methodology and our understanding of genes and diseases will improve in the future, consideration should be given to banking the biological material of affected individuals. With this application I want to create a collection of such samples from individuals affected by Williams Beuren syndrome and other genomic disorders. These are genetic diseases that result from DNA rearrangements that cause gain or loss of chromosomal region that involve many genes. The proposed biobank will include a detailed description of clinical, functional and behavioral features of all enrolled individuals. Molecular and cytogenetics characterization of all cases will be also included, such as the exact size of the rearrangement. Consistently with the Telethon Foundation mission, I am convinced that this database will represent an invaluable resource that will be made available to the scientific community for further studies aimed at the understanding of the pathophysiologic mechanisms underlying these rare syndromes. The availability of a consistent number of cultured cells will guarantee the possibility to perform several in vivo experiments, as testing the effect of putative therapeutics.