The completion of the Human Genome Project has triggered worldwide excitement and enthusiasm that no medical advancement in recent history could come close to matching. Knowledge of the human genome sequence has signaled that the field of genetics will move forward at a rapid pace. Medicine as we know it will never be the same again.

The global medical community almost simultaneously recognized what geneticists had known all along: Genetics will have a dramatic effect on health care by vastly improving diagnosis, thus enabling intervention, and ultimately prevention of disease. It is unusual that a single discipline could reach into every area of human health and disease, yet every single human condition has a significant genetic component.

The Dr. John T. Macdonald Foundation Center for Medical Genetics, one of the Foundation’s two signature program initiatives, is the fulcrum of genetics activity at the University of Miami School of Medicine. It brings together medical genetics researchers, educators, and clinicians to serve Miami and the wider South Florida community. The Center’s mission is “to establish an international center of excellence at the University of Miami for the discipline of Medical Genetics that will advance research, offer education, and provide service.” For a complete list of faculty and programs, and for educational materials on genetics and genetic conditions,  please visit the Center’s website here.

The Center is under the leadership of Dr. Louis J. (Skip) Elsas, a world authority on the genetics of birth defects, particularly those affecting metabolism. The $6.25 million grant provides funding for several new research faculty members from both the clinical and basic sciences, the Dr. John T. Macdonald Foundation Fellow in Medical Genetics, as well as professional and public education programs in medical genetics, and essential laboratory equipment and supplies. Our long-term vision is that this seed money will attract other notable donations and enable the establishment of a preeminent center for genetics research and services in this country. Six new faculty members have been recruited to the Center, with research interests in biochemistry, neurology and bioinformatics.

With an additional $5 million grant from The Dr. John T. Macdonald Foundation, Dr. Elsas has established the Miami GeneCure Diagnostic Laboratory. This is a unique diagnostics resource, being the only local platform for translational research, and offering comprehensive screening and diagnostic testing for prenatal, neonatal, pediatric, and adult diseases and conditions. The Molecular Cytogenetics Laboratory is headed by Dr. Yao-Shan Fan, a world-renowned cytogeneticist, and we are excited about our newest recruit, Dr. Carla Cuthbert, as director of the Biochemical Genetics Laboratory. The Miami GeneCure Diagnostic Laboratory is quickly becoming a focal point for translational research and genetics services for South Florida.

The Miami Gene Team was created by Dr. Elsas to bring together the significant number of established and respected genetics programs already at the University of Miami. The active, multidisciplinary membership includes scientists from the Sylvester Comprehensive Cancer Center, the Department of Cardiology, the Department of Pediatrics, the Bascom Palmer Eye Institute, and the Diabetes Research Institute as well as marine and plant geneticists from the Coral Gables and Marine Biology campuses.

As important advances in genetics research take place and enormous amounts of new information become available, one of the greatest challenges will be to translate these discoveries into clinical practice. The Dr. John T. Macdonald Foundation Center for Medical Genetics and the Miami GeneCure Diagnostic Laboratory are leading the momentum in South Florida for research, education and service in Medical Genetics. The translation of basic science from the bench to the bedside will be greatly enhanced and nurtured under the auspices of this Center.