The genetic analysis of both GAIN and GEI will focus on the alternative spellings ?called single nucleotide polymorphisms or SNPs ?that normally occur in the order of the 3 billion DNA base pairs or letters that make up a person's genome. SNPs are like single-letter misspellings of a word. Most of these genetic variations are biologically meaningless. But a small fraction of these SNPs alter the function of a gene ?often only slightly. The combination of many slightly altered genes may significantly increase the risk of a specific disease, but identifying such a complex set of genetics changes is challenging. Finding these disease-causing variants is one of the highest priorities of current biomedical research.
"Virtually all diseases have a hereditary component, transmitted from parent to child through the three billion DNA letters that make up the human genome," said Francis S. Collins, M.D., Ph.D., Director of the National Human Genome Research Institute at NIH and chairman of the GAIN Steering Committee and co-chairman of the NIH Coordinating Committee for GEI. "But progress in identifying the genetic factors that influence health or disease, or even the response to treatment, is difficult. Both initiatives promise to rapidly identify the myriad genes in an individual that, taken together, contribute to an increased risk o
Source:NIH/National Human Genome Research Institute