Keynote Speaker: Sudhir Kumar, Ph.D., Professor, Director, Center for Evolutionary Functional Genomics, Biodesign Institute Professor, School of Life Sciences

Title: "Evolutionary anatomies of disease mutations in proteins"

Abstract: Amino acid mutations in a large number of human proteins are known to be associated with heritable genetic disease. I will discuss some recent findings about the influence of the conservation of amino acid positions on the genome-wide patterns of thousands of human disease-associated mutations (DAMs) reported in hundreds of
proteins. These DAM patterns will be contrasted with those observed for thousands of non-synonymous Single Nucleotide Polymorphisms (nSNPs). Biochemical severities of differences seen between species (inter-specific variation), within species (nSNPs), and DAMs will be discussed. I will demonstrate that the neutral theory of molecular
evolution explains the observed patterns, which underscores the importance of the consideration of evolutionary anatomies of amino acid positions in clinical and population genetic analyses aimed at diagnosing the pathogenic potentials of novel amino acid mutations.

Back to schedule