The Cancer Genomics Unit (CGU) focuses on applying emerging genomic technologies to understand the molecular basis of genetic diseases. In the past, CGU has been involved in generating physical maps for several disease regions, such as the 5q deletion in myeloid disorders, translocation t(3;8) in renal cell carcinoma, and early onset breast cancer (BRCA1) at 17q. CGU has employed state-of-the-art technologies towards successful positional cloning of multiple endocrine neoplasia type 1 (MEN1) and Alagille syndrome, and contributed to collaborative cloning projects for Menkes disease, Parkinson's disease, Bardet-Biedl syndrome 1, and zebrafish genes headless and mind bomb.
Through the use of mouse, zebrafish and drosophila model systems, CGU's efforts led to uncovering biological functions of the novel tumor suppressor gene responsible for MEN1 and its role in tumorigenesis. CGU also developed and employed BAC CGH arrays for copy number evaluation in breast cancer and colon cancer. Currently, CGU studies the genetics and genomics of a cancer susceptibility syndrome, Fanconi anemia (FA). Understanding the molecular diagnosis of FA is critical for clinical management of the disease. Mutations in 16 known genes in a DNA repair pathway cause FA, and there are novel FA genes yet to be identified. CGU employs next-generation sequencing technologies, comparative genomic hybridization, as well as high-density SNP arrays to profile the mutation spectrum and other genomic changes in FA patients. CGU is also exploring the contribution of FA gene mutations in patients with early onset head and neck cancer. Through the application of advancing genomic technologies, CGU investigates the genetic basis of FA to better understand DNA repair, genomic instability, maintenance of hematopoietic stem cells and cancer.
Dr. Settara Chandrasekharappa obtained his B.Sc. and M.Sc. from Bangalore University, and Ph.D. from The Indian Institute of Science, India in 1983. He completed his postdoctoral training at the University of Illinois at Chicago in molecular virology, and at the University of Chicago in molecular genetics. In 1991, Dr. Chandrasekharappa joined the Human Genome Center at the University of Michigan. As the director of the Library Core, he focused on employing genomic and cDNA libraries for genome research in genetic diseases. In 1993, Dr. Chandrasekharappa joined the National Human Genome Research Institute (NHGRI), and currently serves as director of the Genomics Core. Dr. Chandrasekharappa's group is essential in providing resources and services related to genomic research for NHGRI investigators.
As head of the Cancer Genomics Unit, his research efforts led to the identification of genes, and exploring the biological functions of the encoded proteins, responsible for Alagille syndrome and multiple endocrine neoplasia type 1. His current efforts are centered on the genetics and genomics of Fanconi anemia (FA). He employs novel approaches to study the molecular pathogenesis in FA.
Last Updated: January 5, 2015