AFCR - CityU Innovation Series in Biomedicine

Abstract

Genetics plays a very important role in human health and disease. There are several lines of evidence that support this view. There are several thousands of human disorders that are the result of genetic mutations that are inherited from the parents. Mutations in some genes such as BRCA1 or APC cause predisposition to cancer. For adult-onset disorders such as diabetes, family history is one of the most risk factors. If the genetic lesions that are responsible for these disorders can be identified, it is possible to prevent or treat the disease at its early stages to improve the quality of life of the population.

Since the completion of the human genome project that provided the sequence of the human genome and the subsequent advances in genome sequencing technologies, it is now possible to sequence parts of human genome or the entire sequence at an affordable cost.

Women that become pregnant after the age of 35 have a high risk of having babies that have chromosomal abnormalities resulting in disorders such as Down syndrome. It is now known that maternal blood carries some fetal DNA and therefore, it is possible to obtain DNA from maternal blood and assess if the fetus has any chromosomal abnormalities. There are several thousand childhood disorders and more than 5% of newborns have genetic defects. Sequencing fetal DNA can accurately diagnose the disease in a relatively short period of time and provide an accurate diagnosis that drives the treatment plan. Certain genetic disorders such as hypertrophic cardiomyopathy are the result of dominant acting genetic changes leading to possible sudden death. Genetic testing can identify adolescents or young adults with such disorders and prevent fatalities. Families that have a history of early onset cancer can be tested for mutations in cancer susceptibility genes. It is now well established that cancer is a genetic disease and tumors can be classified based on the genetic changes that are critical to the initiation, progression and maintenance of cancer. Genetic testing provides an opportunity to determine the optimal treatment for each cancer patient.

Speaker Bio

Since 2001 Dr Kucherlapati is the Paul C. Cabot Professor of Genetics and Professor of Medicine at Harvard Medical School and was the first Scientific Director of the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG).

Raju Kucherlapati received his Ph.D. from the University of Illinois at Urbana and did his post-doctoral work at Yale University. He was assistant professor in the Department of Biochemical Sciences at Princeton University, and then became professor in the Department of Genetics at the University of Illinois College of Medicine. In 1989 Dr Kucherlapati went to the Albert Einstein College of Medicine where he was the Lola and Saul Kramer Professor of Molecular Genetics and University Chairman of the Department of Molecular Genetics, a position he held for eleven years.

Dr Kucherlapati contributed to several different areas of research in genetics and genomics. He was a part of the Human Genome Program and the Cancer Genome Atlas Program. He served on the editorial board of the New England Journal of Medicine and was editor in chief of the journal Genomics. He is a fellow of the American Association for the Advancement of Science and a member of the National Academy of Medicine. Dr Kucherlapati was a member of the Presidential Commission for the Study of Bioethical Issues during the Obama administration. He also served as an advisor to the Center for Medicare and Medicaid Services (CMS) for reimbursement of laboratory developed tests.