Riva del Garda: Telethon Convention for research in the field of genetic diseases
On 13, 14 and 15 March 2017, Riva del Garda hosted the Telethon Convention for research on genetic diseases. The convention offered researchers from leading Italian and international medical and pharmaceutical research institutions an opportunity to meet and exchange ideas.
Many topics were covered: from neuro-developmental disorders to preclinical approaches to correct neurological defects, to state-of-the-art tests funded by Fondazione Telethon. Speakers included: Enrico Cherubini, University of Rome Tor Vergata, Luigi Naldini, Vita Salute San Raffaele University of Milan, William A. Gahl, National Human Genome Research Institute (NHGRI) of Bethesda, and Joel Gottesfeld, Scripps Research Institute of La Jolla, USA.
Of particular interest was the workshop on “data management”, a set of disciplines dealing with the processing and storage of large amounts of data: on that occasion, the Interuniversity Consortium Cineca presented the platform Telethon-Cineca Genomics Repository for the organization and storage of genomic data, in particular for the management of information generated in the context of the Telethon Undiagnosed Diseases Programme.
The Cineca platform makes use of the supercomputing resources of PICO, the super computer named after humanist and philosopher Giovanni Pico della Mirandola, renowned for his prodigious memory: consisting of a set of powerful processors, equipped with extensive central memory and special “accelerators”, it provides faster access to data from simulations and to the shared data repository.
Thanks to the Telethon-Cineca partnership, data coming from genomic sequencing, proteomic sequencing and numerical simulations will be used to develop new therapies and synthesize new personalized drugs against the incidence of rare diseases.