Medical Transcript

Building the ‘Miami Gene Team’

The School of Medicine is centralizing and expanding its research in genetics at the new Dr. John T. Macdonald Foundation Center for Medical Genetics. The center will be multidisciplinary but has its origins in the Departments of Pediatrics and Neurology. Recruited to lead the initiative is Louis J. Elsas, M.D., who established Emory University’s acclaimed genetics program. Elsas discussed the promise of genetics and his plans for the center with Christine Morris, associate vice president for communications at the School of Medicine.

CM Why is it important for a medical school to have a strong genetics program?
LE The study of genes in the human system promises to alter the attitude of health care delivery. Medical genetics—a recognized specialty of the American Medical Association—identifies and studies the normal and abnormal mechanisms by which information is transmitted from individual to individual and from cell to cell. With this knowledge we will identify the individual’s and the family’s genetic susceptibility to the environment and develop interventions that will prevent premature morbidity and mortality and maintain optimum health.
      The future of gene-based medicine will be a complete turnabout, from an emphasis on taking care of you after you’re sick and have irreversible damage, to predicting where your susceptibilities lie and intervening to prevent that expected outcome. The needs are vast, and the numbers of certified medical geneticists are small.
      There is a lot of resistance to this predictive-preventive approach in established medicine because society is not prepared for it and the available interventions are few. Western culture promotes the Cassandra myth, suggesting that the ability to foretell the future is bad and that privacy is more important. Genetics must overcome the misconception that its predictive power is bad and, with further research, formulate more interventions that succeed in preventing poor outcomes.

CM Are there disciplines where your formula of prediction, intervention, and prevention is already working?
LE Yes, the screening of all newborns for inherited metabolic disorders is a paradigm for prevention of mental retardation and premature mortality. We are working with the Legislature to expand Florida’s newborn screening program because there are many more disorders that can be prevented in the newborn that we’re not screening for at a public health level. Additionally, common adult-onset disorders—cancer, heart disease, stroke, diabetes—are caused by many genes producing susceptibility on which the environment works to produce disease with increasing time of exposure. Medical genetics will determine these genes, the environmental factors, and appropriate interventions through continued research.

CM How will you go about building a genetics program at the University?
LE I’m here as the developer of a vision. After studying biochemistry at Harvard and medicine at the University of Virginia, and spending several years as a resident, fellow, and assistant professor at Yale, I went home to Atlanta in 1970 to establish a genetics discipline at Emory. In general, during the 1970s medical school faculty did not teach genetics. Over three decades Emory developed a Department of Human Genetics with 27 faculty members. On a national level, by working with people like Rodney Howell [longtime chairman of UM’s Department of Pediatrics] and the American College of Medical Genetics, the discipline of medical genetics became recognized as a specialty of medicine.
      So, at age 65 and having been part of the development of national and university programs, I decided to “retire” from a strong program at Emory and come to the University of Miami and help develop the “Miami Gene Team.” Very few people have had the opportunity to build two programs. The Dr. John T. Macdonald Foundation Center for Medical Genetics will be a multidisciplinary center that will work with existing geneticists at the University and recruit new scientists, who, together, will catalyze an outstanding, internationally recognized program.

CM Do you envision a specific area of focus for the center?
LE My background is in biochemical research and application of “metabolomics.” Genomics, the mapping of the human genome, is complete. Translating that into benefits to society will require that we understand how the products of these genes, the proteins, function in the cells and in the intact organism. When those proteins are impaired by mutation, we need to determine how the organism either compensates or fails. When we understand normal and abnormal function, we can intervene to prevent failure and return homeostasis. We will use the tools of genomics and proteomics, but in building a new program, you need to push the envelope a little further than where the rest of the world is. I think metabolomics is an area we can get into and be a leader fairly fast.
      We’ve made a lot of progress, but the translation of research into practice has been slow. There are a few clear examples of how metabolomics can work: One in 500 individuals has high blood cholesterol levels because of one gene that affects the ability of cholesterol to get into cells. We know from metabolomics, from the study of genes controlling cholesterol metabolism, that the result of that gene is overproduction of cholesterol by the affected cell. If you can stop the overproduction of cholesterol, with consequent disposition in vessels and heart disease, you can reduce the risk that that mutant gene creates for early onset of heart disease. Statin drugs were developed that interfere with the overproduction of cholesterol in affected cells by preventing the response of the affected cell to lower cholesterol in the cell. This is an example of one major gene that causes early onset heart disease, but only for about 10 percent of all causes of heart disease. This shows there is more research to be accomplished.
      Another example is the recent breakthrough in chronic myeloid leukemia. A genetic transformation of a protein called a kinase results in the cell growing out of control, and a drug called Gleevec will interfere with that specific mutated kinase. It’s a cure for one form of cancer caused by a chromosomal variation that produces a “turned on” signal for cell growth.

CM What is the larger educational role of a university genetics center?
LE The community, consumers, educators, and health professionals all are interested in learning about genetics. Conveying information to patients’ families, helping them figure out what to do, and determining appropriate interventions are part of our responsibility as physician-geneticists.
      The Dr. John T. Macdonald Foundation understood this and put a large amount of its revenue into this center’s development. I feel responsible to the Miami-Dade County population to make this work, to bring physician-scientists and educators to campus who work in medical genetics, so the discipline can be advanced and the community benefited. We need a critical mass of investigators, educators, and practitioners to further knowledge and establish laboratory, clinical, and educational services in medical genetics. Then, when a patient has a history of a common, polygenic problem like familial cancer, we can help the family and the physician find resources to diagnose and prevent cancer in the family and patient. We want a resource here that can provide DNA analysis, explain when mutational analysis is appropriate or inappropriate, what the results mean, and how those results can be used to prevent cancer.
      We will work to integrate genetics into the medical curriculum—it’s not an isolated discipline but a knowledge base that should be pervasive in all clinical departments. New faculty will support existing training and offer new human genetics education to graduate programs in arts and sciences, medicine, marine biology, etc.
      We will develop residency programs in medical genetics and integrate this with other clinical disciplines.
We also will recruit investigators and clinicians to carry the knowledge, attitudes, and skills of medical genetics into this century and the next.

Photography: by John Zillioux
University of Miami Medicine Online
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