The mission of the Program in Genomics is to facilitate and carry out research on multifactorial conditions that have genetic components. The goals of identifying the underlying genetic and nongenetic causes of these conditions are:
- To guide the use of existing treatments.
- To help develop new treatments, cures and preventive measures.
- To use genetic and other information to facilitate the identification of individuals at high risk of developing disease.
- To better understand the basic biology of human diseases and related traits.
We have a particular focus on studying human variation at the DNA and RNA levels. The Human Genome Project has provided the complete sequence of the human genome and with it have come powerful tools to study multifactorial conditions, also called complex genetic traits.
At the DNA level, we now have databases that catalog many of the sites in the human genome at which humans frequently differ. These differences in DNA sequence (usually single-nucleotide polymorphisms, or SNPs) help define our unique phenotypic differences and our responses to outside environmental influences. It is currently possible to measure in large numbers of people the genotypes at SNPs spread across the entire genome. By combining these genotypes with information about diseases or traits (phenotypes), it will be possible to map the DNA sequence differences that underlie these traits and diseases by looking for correlations between phenotype and genotype correlation.
At the RNA level, the identification of all of the genes in the human genome makes it possible to study the varying levels of expression of all genes across the genome simultaneously, allowing us to recognize complex patterns of gene expression that are associated with diseases or other phenotypes and to identify biologic pathways that are altered in disease.