Genetic Mapping for Cardiac Risk Assessment (GENOCOR)

• association studies between a panel of known SNPs of candidate genes and proneness to IHD and its prognosis; [ Time Frame: 4 years ] [ Designated as safety issue: Yes ]
  High throughput SNPs technologies will be used to assess profiles of genetic variability identifying subjects with a distinct proneness to ischemic heart disease (IHD), hard cardiovascular events and unfavourable outcomes.
  
  
• Number of participants with adverse events [ Time Frame: maximum length of follow‐up between enrollment and events or the planned end of follow-up ] [ Designated as safety issue: Yes ]
  Major cardiac and non-cardiac events will be register for the planned lenght of follow-up
  
  

• secondary prevention and specific treatment of ischemic heart diseases (IHD) [ Time Frame: 10 years ] [ Designated as safety issue: Yes ]
  Understanding of genetic and molecular mechanisms of the different clinical syndromes of ischemic heart disease (IHD), of its patterns of evolution and response to treatment represents a key research issue to develop innovating approaches to early diagnosis, risk classification and treatment.
  
  

The Laboratory will be based in the premises of the CNR Institute of Clinical Physiology, a research institution operating as CVD Research Hospital System, with two Hospital Units (CNR Campus in Pisa and G. Pasquinucci Hospital in Massa).

The project is based on the cooperation of a national private company (DiaSorin, endowed with promising proprietary technologies in the novel diagnostic biotechnologies) and three research units (at clinical and molecular biology level) two from the National Research Council (IFC-CNR, Pisa and ITB-CNR, Milano, both very active in advanced biological research) and one from the University Vita-Salute San Raffaele (UHSR, Milano, operating a top range hospital and center for advanced biological research): GENOCOR Lab becomes then the first product of the cooperation within the CNR MERIT Network (MEdical Reseach in ITaly) currently being set-up by CNR.

The project is based on the availability of proprietary large scale databases of selected clinical populations that will be probed with the novel genomic and post-genomic technologies. High throughput SNPs technologies and post-genomic expression and proteomic analyses will be used to assess profiles of genetic variability identifying subjects with a distinct proneness to ischemic heart disease (IHD), hard cardiovascular events and unfavourable outcomes. Specific focusing will be made possible by the availability, within the proposed research network, of well established clinical data bases and biological sample collections, enabling the retrospective and prospective access to large and well characterised populations of patients with IHD. Cardiovascular phenotypes will include patients with acute coronary syndromes (unstable angina and acute myocardial infarction) and patients with chronic ischemic heart disease and prolonged follow-up; with this approach, it will be possible to cover both short-term and long-term evolution by detailed clinical, biohumoral and instrumental phenotyping at the time of acute events and with a systematic follow-up.

This approach should allow to overcome the major limitations and unbalance of previous studies, either focussed to small well characterized populations in which few genetic variations have been explored, or extended to large populations with a wider gene variability approach but inadequate information on phenotype and evolution disease.