Biochemical Genetics and Metabolomics of Human Genetic Disorders and Conditions: Cancer, Aging, and Alzheimer's Disease
The Patterson laboratory is studying molecular genetics and metabolic changes associated with a variety of human disorders and conditions including the aging process. The unifying hypothesis is that these conditions have associated metabolic changes that can reveal underlying mechanisms and that understanding these mechanisms may lead to new therapeutic approaches.
Down syndrome, Alzheimer's disease, and the Biology of Aging
Dr. Patterson studies the intellectual and other disabilities faced by individuals with Down syndrome using cell and mouse models. Dr. Patterson is internationally recognized as one of the foremost authorities on Down syndrome. The laboratory is developing methods to study metabolic changes associated with Down syndrome and with aging aimed at developing therapies to alleviate the intellectual and other disabilities seen in Down syndrome and to extend healthy aging. Individuals with Down syndrome have an increased risk of developing Alzheimer's disease at a relatively early age. The Ts65Dn mouse model of Down syndrome under study in the lab has brain changes and learning and memory changes that resemble those seen in individuals with Alzheimer's disease so these studies may illuminate the process of both Down syndrome and Alzheimer's disease.
Human Genetic Disorders and Cancer
Researchers in Dr. Patterson's laboratory also are using biophysical, biochemical, and genetic approaches to study inborn errors of metabolism associated with developmental delay, intellectual disability, and autistic features. As a part of these studies the laboratory is attempting to develop novel diagnostic procedures for detecting and studying mutations associated with a particular metabolic pathway, the de novo purine synthesis pathway, that may lead to developmental delay and intellectual disability. Alterations in purine metabolism are also seen in cancer cells, and in some cases involve the same genes that cause inborn errors. Therefore, the same metabolic changes may be important for cancer biology.