Associated Faculty
Progressing towards a new era of personalized medicine, scientists are now cataloging the differences in DNA sequence among individuals to better understand the relationship between genes, physical traits and disease. The identification of patterns of genetic variation, with the goal of helping physicians diagnose and treat diseases before symptoms appear, eventually will have a profound effect on both medicine and society.
Much of the early research related to the human genomics has focused on identifying small sequence differences among individuals, with nearly 12 million such single nucleotide polymorphisms (SNPs) found so far at sites in the human genome. But SNPs represent only a fraction of human genetic variation; other types of variation, such as insertions and deletions (INDELs) and transposon insertions, also are abundant in humans but remain relatively unexplored - even though they can affect the functional sequences of genes and may influence susceptiblity to disease.
The IGS Human Genetic Variation group has developed new experimental approaches to identify and study these alternative forms of genetic variation. The researchers plan to construct a comprehensive map of insertion and deletion (INDEL) variation in the human genome, examine INDEL patterns in human populations, and identify INDEL variation that is caused by transposable genetic elements. With that data, scientists can create integrated maps of natural genetic variation - including SNPs, INDELs, and transposon insertions - that will be more useful than SNP maps alone for identifying variations that directly influence human traits and diseases.
The ultimate goal of such research is to "crack the code" of human variation to fully understand how an individual's genetic variation affects health. At that point, personalized medicine would reach the point at which physicians could use genome sequence data to predict a person's susceptibility to diseases and to define other traits.
