Pui-Yan Kwok, MD, PhD

Professor
Cardiovascular Research Institute
+1 415 514-3802
Research Overview: 

The overall goal of our research is to develop the tools for genetic analysis of whole genomes and to apply these tools to elucidate the genetic factors associated with common human traits. We are actively involved in three areas of research. First, we are developing efficient methods for single DNA molecule analysis with the goals of mapping whole genomes and determining the haplotypes of diploid individuals unambiguously. Second, we are applying state-of-the-art genetic tools to search for genetic factors associated with complex human traits. Third, we are studying genes involved in drug transport and metabolism in different ethnic populations to identify gene variants that affect drug response or lead to adverse reactions.

On-going collaborative projects include studies of genetic susceptibility to psoriasis, narcolepsy, systemic lupus erythematosus, hemorrhagic risk in brain arteriovenous malformations, and sudden cardiac arrest; identification of functional variants in genes that affect drug response; search for genetic determinants for longevity; prediction of kidney transplantation outcomes based on the genetic, proteomic, and expression patterns of the recipients and the grafts; and the elucidation of the structure-function relationship of collagen genes, especially in the context of osteogenesis imperfecta.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Analysis of Complex Genetic Traits

Websites

Publications: 

The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.

Genetics

Heft IE, Mostovoy Y, Levy-Sakin M, Ma W, Stevens AJ, Pastor S, McCaffrey J, Boffelli D, Martin DI, Xiao M, Kennedy MA, Kwok PY, Sikela JM

Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.

Science translational medicine

Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptácek LJ, Fu YH

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular genetics & genomic medicine

Wong KHY, Levy-Sakin M, Ma W, Gonzaludo N, Mak ACY, Vaka D, Poon A, Chu C, Lao R, Balamir M, Grenville Z, Wong N, Kane JP, Kwok PY, Malloy MJ, Pullinger CR

Targeted genomic profiling of acral melanoma.

Journal of the National Cancer Institute

Yeh I, Jorgenson E, Shen L, Xu M, North JP, Shain AH, Reuss D, Wu H, Robinson WA, Olshen A, von Deimling A, Kwok PY, Bastian BC, Asgari MM

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

Genome research

Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR