OCT 30, 2014 10:30 AM PDT

Genomics in the Clinic: Promises and Challenges

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  • Deputy Director of Basic Science, Professor and Director Integrated Cancer Genomics Division, TGen
      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. Also mutations in the HRPT2 gene, which maps to 1q31, were discovered in the Carpten lab and lead to hyperparathyroidism jaw-tumor syndrome. Dr. Carpten also has an intense focus on understanding the role of biology in disparate cancer incidence and mortality rates seem among minority populations. Through his leadership, the African American Hereditary Prostate Cancer Study (AAHPC) Network was conceived.  This study has become a model for genetic linkage studies in underrepresented populations and led to the first genome wide scan for prostate cancer susceptibility genes in African Americans.  More recently, his group has discovered a number of single nucleotide polymorphisms, which confer increased risk of developing prostate cancer.  He has recently led and co-authored a series articles describing the roles of genetic variants in prostate cancer risk in Genome Research, Journal of the National Cancer Institute, and the New England Journal of Medicine.


    Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. Next generation sequencing platforms are now paving the way to make numerous genomic and transcriptomic measurements including point mutations, copy number alterations, translocation mapping, and exon/allele specific transcriptome profiling with a single technology. We hope to apply this technology and build it out in a clinical setting to help oncologist determine the best course of treatment, currently for end-stage cancer patients. It is our hope that these technologies will be incorporated early in the clinical management of cancer to improve overall outcomes for patients.

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