The Human Genome Project has been instrumental in creating reference datasets, of DNA sequence, genetic variation, expression and rudimentary function, that have begun to provide an unprecedented view of genome structure and function. Increasingly, however, datasets of the same magnitude and breadth are being assembled from individuals with specific disease phenotypes and medically relevant intermediate traits. These studies are not only providing important clues to the underlying disease susceptibility genes but also how alterations in genome structure may affect genome function.

Numerous studies are not only providing specific hypotheses regarding disease pathophysiology that need to be tested but is raising the specter of individualized risk assessment. The success of the first area is assured even though progress in the second area may require considerably more development to enable a personalized genetic medicine.

Dr. Chakravarti is the Director of Center for Complex Disease Genomics and Professor of Medicine, Pediatrics, Molecular Biology & Genetics, and, Biostatistics at the Johns Hopkins University School of Medicine and the Bloomberg School of Public Health. He is the 2008 President of the American Society of Human Genetics, a member of the US National Academy’s Institute of Medicine and an Honorary Fellow of the Indian Academy of Sciences. He has been a key participant and architect of the Human Genome, HapMap and 1000 Genomes project.

He received his doctoral degree in human genetics from the University of Texas Health Science Center in Houston in 1979 and continued postdoctoral training at the University of Washington in Seattle during 1979-80. He started his faculty career at the University of Pittsburgh (1980 – 1993), was the James H. Jewell Professor of Genetics at Case Western Reserve University (1994-2000), and the inaugural Director and Henry J. Knott Professor of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins (2000-2007). Dr. Chakravarti is one of the founding Editors-in-Chief of Genome Research, and serves on the Advisory and Editorial Boards of numerous national and international journals, boards, academic societies, the NIH and biotechnology companies. His research is aimed at genomic-scale analysis of the human genome and computational analysis of gene variation and function to understand the molecular genetic basis of human disease.

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