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Disease Genetics

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My scientific interests are concerned with the understanding of the genetic basis of resistance/susceptibility to disease. The vast majority of common diseases studied to date have been shown to depend on multiple genetic factors. This is the case of several autoimmune and infectious diseases where the main challenge is now to reveal the contribution of individual genetic factors to the disease process. I am proposing to develop a research program based on the systematic analysis of individual genetic factors involved in disease resistance or disease susceptibility both in humans and in murine models. The diseases under study are primarily type 1 diabetes and malaria. The research program is based in 4 distinct but convergent perspectives: (1) mouse genetics, (2) human genetics, (3) statistical genetics and (4) bio-informatics. This program is supported in a technological platform aiming to include all the steps involved in formal disease gene isolation namely fine genetic mapping and candidate gene analysis.

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Maria Mota

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