Prof Dr M Ferrari Professor Clinical GeneticsPresident IFCC Italy Read More Ospedale San Raffaele Prof Dr M Ferrari Professor Clinical Genetics / President IFCC Dept Clinical Genetics Ospedale San Raffaele, Milan, Italy E ferrari.maurizio<at>hsr.it W http://www.hsr.it Background Research activities (updated 2012)Our investigation is focused to the identification of new disease genes and to a variety of predisposing sequence variations in order to improve genotype-phenotype correlation in both monogenic and multifactorial traits. We developed high throughput genotyping to perform case-control association studies as well as targeted or exome re-sequencing by Next Generation Sequencing (NGS). In addition, in order to classify new variants with respect to their pathogenicity, in vitro functional studies were carried out. Advanced methodologiesThe Unit applied advanced methodologies to molecular analysis of genes involved in several diseases, including neurologic and neuromuscular, arrhythmogenic, pediatric or neonatal surfactant deficiencies and respiratory distress, macular degeneration, neurodegeneration, iron metabolism, polycystic kidney and myeloid neoplasms. Mutations In the field of non-invasive prenatal diagnosis, a strategy based on the use of amplification at lower denaturation temperature-PCR (COLD-PCR) for the identification of the most frequent b-thalassemia mutations was developed and applied in couple at risk.In the frame of the International Human Variome Project we initiated the Neurogenetics Consortium establishing strategic aims. Store and interpret the DNA variation in a standardized way is likely to become a critical step in maximizing the impact of discovery on the understanding and treatment of human disease. Molecular biologyOur expertise in molecular biology was also applied to the development of advanced immunoassays that were used to characterize the autoimmune response associated with type 1 diabetes. Our assays are based on recombinant antigens and were used to measure autoantibodies against several pancreatic β cell antigens in patients with type 1 diabetes. In particular antibodies to the Zinc Transporter 8 and IA-2-β autoantigens were evaluated both in the preclinical phase of the disease and in the clinical setting of either whole pancreas or purified islet transplantation.