Richard M. Myers
Molecular Basis of Inherited Diseases in Humans; Human Genetics; Genome AnalysisMy laboratory does research in several areas of human genetics, all of which are concerned with understanding the molecular basis of inherited diseases. Our work is done in collaboration with Dr. David Cox and his laboratory. One major focus is the study of the function of the gene involved in the neurodegenerative disorder Huntington disease. We are using a variety of genetic and biochemical approaches to determine the role that this very large gene product plays in normal cells and how the trinucleotide expansion of a CAG repeat in the coding region of the gene results in the devastating phenotypic effects in the disease.
A second area of research is the development and application of positional cloning strategies to isolate genes responsible for inherited diseases in humans and mice. We are using genetic mapping methods to identify the chromosomal location of a gene involved in bipolar affective disorder, or manic depression, a very common disease that shows Mendelian inheritance in some families. In addition, we are working towards isolating the genes responsible for progressive myoclonus epilepsy on chromosome 21 in humans and for the cerebellar mutant weaver phenotype in mice. The strategy involves cloning the genomic DNA segments flanked by the closest meiotic markers to the disease loci, isolation of coding sequences, and identification of the mutation responsible for the disease.
Finally, I direct the Stanford Human Genome Center, where we are developing and applying genome mapping and sequencing strategies to generate high-resolution maps of the human genome. We are generating a large number of DNA markers throughout the genome and using them with a combination of radiation hybrid and yeast artificial chromosome mapping to construct maps of human chromosomes. In addition, we are developing DNA sequencing technologies and applying them to the analysis of several megabase-sized regions of the genome in which interesting disease genes are located.