2005 Public Lecture Series
Genetic Variation: Context and Content Matter
The Human Genome Project has been completed and it is now possible to study the manifestations of genetic variation on several levels. First, by looking around the room at any gathering, the most obvious form of genetic variation is easily observed. Differences in the physical appearance of individuals are not difficult to miss. By probing deeper the study of DNA variation has been used to better understand why individuals with changes in the same gene can have very different disease symptoms. For example, cystic fibrosis can result from any of 1,300 different mutations. Similarly, different genes can cause the same disease, e.g. macular degeneration. Lastly, DNA variation may be used as a tool to map susceptibility to diseases caused by changes in several genes. Several companies have begun direct-to-consumer marketing of genetic tests with the promise to determine susceptibility and provide lifestyle changes for better health outcomes. This lecture will provide a basis for understanding genetic variation and will help separate fact from fiction and the hype revolving around genetic testing.
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Dr. Caggana received her doctoral degree from the Harvard School of Public Health and completed post-doctoral work in clinical molecular genetics at the Mt. Sinai School of Medicine. She is board certified in clinical molecular genetics by the American Board of Medical Genetics and a faculty member in the American College of Medical Genetics. Dr. Caggana directs the Newborn Screening Molecular Laboratory and is the deputy director for the Newborn Screening Program. She is the section head for genetic testing at the Wadsworth Center. Dr. Caggana's laboratory uses molecular genetics techniques to study frequencies of specific gene mutations in dried blood spots received as specimens for newborn screening.