John Carpten

Biography

Dr. Carpten received his Ph.D. from the Department of Molecular Genetics, The Ohio State University in 1994. Prior to joining TGen, Dr. Carpten was an intramural tenure track investigator with the Cancer Genetics Branch of the National Human Genome Research Institute (NHGRI), NIH, a group that pioneered a number of innovative technologies and methods to study the underlying genetics of cancer. Dr. Carpten, has made a number of seminal discoveries in cancer genetics and genomics. While a fellow and later a tenure track investigator at NHGRI/NIH, he co-led the first published genome wide scan for prostate cancer susceptibility genes published in 1996 in Science. His lab subsequently discovered germ-line mutations in the RNASEL gene in HPC1-linked hereditary prostate cancer families. His contigs of the 1q24-q31 region of the human genome became the framework and template for sequencing of that 20 megabase region by the Human Genome Project. These data were also used for the subsequent discovery of two other disease genes. The PRG4 gene mapped to 1q24 and mutations within this gene result in CACP, a congenital joint disease. Also mutations in the HRPT2 gene, which maps to 1q31, were discovered in the Carpten lab and lead to hyperparathyroidism jaw-tumor syndrome. HRPT2 mutation and parafibromin IHC assays are currently being developed as a clinical diagnostics for parathyroid cancer.

Research Interest

cancer incidence and mortality rates seem among minority populations, Prostate Cancer, sporadic tumor research, cutting edge molecular techniques and computational analysis of Human Genome Sequence data in search of genes predisposing to hereditary prostate cancer. identification of novel tumor suppressor genes in sporadic cancer using array-based technologies.