Whole Genome Sequencing constitutes Phase III
of the Alzheimer’s Genome Project™. While Phases I and II informed us of those genes implicated in risk for Alzheimer’s disease, this study will allow us to assess the entire human genome, including the 96 percent that is not made up of “genes,” per se, but instead includes the DNA that regulates the activity of the genes. Having attempted to identify all of the genes involved in Alzheimer’s disease susceptibility, we now will determine all of the DNA variants
in the Alzheimer’s genes that directly influence risk for the disease, and determine all of the DNA variants in the intergenic portions of the genome that regulate the activities of the Alzheimer’s genes.
While much of Alzheimer’s risk and susceptibility is likely to be determined by changes in genes and DNA that are inherited, it also is possible that some of the risk may be a result of epigenetic changes, which modify the activation and pattern of expression of specific genes but do not modify the DNA sequence itself.
By studying Alzheimer’s genes, intergenic DNA and epigenetics, we will determine exactly how each Alzheimer’s gene functionally affects risk for the disease at the biological level.