The promise of the Human Genome Project continues to be realized with successes such as targeted therapeutics or genomic based medicine yet challenges still remain. The causes of genetic disorders continue to be discovered but for many cures remain elusive. This in part due to the complexity that underlies genome function from epigenetics to functions being uncovered in the noncoding regions of the genome. Examples of genetic variation will be discussed and the role of variation in human health. Advances in treating genetic disorders ranging from genomic editing to immuno- oncology will be presented. Genomic knowledge is changing medicine and hopefully this knowledge will lead to a comprehensive understanding of an individuals’ risk for disease and the development of preventative strategies.
Norma Nowak is executive director of the New York State Center of Excellence in Bioinformatics & Life Sciences. She is an acclaimed researcher – a recognized leader in the human genomics field – and an entrepreneur. Her research contributed directly to the Human Genome Project, as well as to genomic-based approaches to understanding heritable disorders and cancer. Nowak is also the founder and chief scientific officer of Empire Genomics, LLC, a molecular diagnostics firm focused on enabling personalized medicine.