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2004 World Technology Awards Winners & Finalists
Please describe the work that you are doing that you consider to be the most innovative and of the greatest likely long-term significance.
Molecular genetics of human cancer
It is now widely accepted that cancer is a genetic disease mediated by alterations in specific genes. However, many of the key suppressor genes and oncogenes responsible for cancer initiation and progression remain to be identified. My laboratory is focused on developing and applying genome-wide approaches to identify molecular differences between human cancer cells and normal cells. These alterations can exist at the level of the genome, involving mutations of specific genes underlying tumorigenesis, or at the level of the transcriptome, involving differential expression of genes in cancer cells. Using genomic tools I have developed over the past several years, including high throughput sequencing approaches, serial analysis of gene expression (SAGE), and Digital Karyotyping, we have begun to elucidate the genetic and gene expression differences important in neoplasia. My group has recently identified frequent activating mutations in protein and lipid kinases not previously linked to human cancer. For example, we have found genetic alterations in PIK3CA in ~30% of colon, brain and breast cancers, providing a rational target for therapy in a large fraction of common malignancies. Future work will focus on characterizing the role of these genes in tumorigenesis as well as systematically using these technologies to identify previously undiscovered oncogenes and suppressor genes. The identification of such genetic alterations will provide insight into the pathogenesis of cancer and open up unprecedented possibilities for diagnostic and therapeutic intervention.
Dr. Victor Velculescu is internationally known for developing technologies that have been instrumental in the molecular analysis of human cancer. Dr. Velculescu developed SAGE (serial analysis of gene expression), a revolutionary method for global gene expression profiling. This approach led him to coin the word “transcriptome" to describe comprehensive gene expression patterns that could now be analyzed. He has devised equally powerful technologies for analysis of the human genome. Using these approaches, his work has begun to provide insights into the molecular differences between cancer cells and normal cells. He recently led an effort that described the first mutational analysis of an entire gene family in human cancers. These findings provide novel targets for therapeutic intervention and open the door to individualized analysis and treatment of cancer.
Dr. Velculescu attended Stanford University where he graduated with Honors and Distinction in Biological Sciences. He obtained his M.D. and Ph.D. in Human Genetics and Molecular Biology at the Johns Hopkins University (JHU) School of Medicine. He remained at JHU for a postdoctoral fellowship in Oncology, focusing on novel genomic methods for analysis of colorectal cancer. He is currently an Assistant Professor of Oncology at The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins.
Although just 33, Dr. Velculescu has already received a variety of honors for his work in genomic technologies and cancer research. These include the Grand Prize Winner of the Amersham/Pharmacia & Science Young Scientist Prize, The Johns Hopkins University Michael A. Shanoff Award, and the Dynal Literature Award. In the lay press, Dr. Velculescu has been recognized by Popular Science as one of the “Brilliant 10” young scientists of the year and by Biography magazine as one of “10 Future Classics.” He has given numerous invited lectures and has organized international conferences on a topics related to his work.
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