Identification of genetic susceptibility to thrombosis i

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One of the missions of the Laboratory of Clinical Genomics is to provide training to physicians in the application of genomic and genetic approaches in the studies of human diseases. Relevant to this goal is our attempts to device global approaches in the identification and screening of risk factors of complex disorders. To this end we have designed a hybridization-based high throughput method for screening of susceptible risk factors for thrombophilia. Thrombosis is suggested to play a role in the development pseudotumor cerebri. Venous thrombosis affects 1 per 1000 individuals annually and is one of the leading causes of mortality and morbidity resulting in approximately 300,000 hospitalizations and 50,000 fatalities per year in the United States alone. It is, however, an avoidable disease if currently available prophylactic treatment is instituted. Our calculations demonstrated that concurrent use of a panel of 10 genetic tests increases the positive predictive value of testing for venous thrombosis at least 25 fold. We have devised an approach (Method Evolved for Recognition of Thrombophilia [MERT], patent pending) that will allow prediction and accurate assessment of hereditary thrombophilia in several ethnic populations by rapid, concurrent screening of an array of all known 143 venous thrombosis associated recurrent mutations and polymorphisms in 8 different genes in order to develop stratification protocols for risk-adapted prophylaxis. Positive results were obtained in preliminary studies. We are in the process of verifying the clinical applicability of the fabricated microarrays.