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 Department of Human Genetics at the University of Miami Leonard M. Miller School of Medicine was created in January 2008 and reflects both the Foundation’s and the Medical School’s commitment to innovative transformational medicine. The focus on genetic research had not been new to either party. In 2000, the Dr. John T. Macdonald Foundation Center for Medical Genetics, through a gift of 6.25 million dollars, was formed. It brought together medical genetics researchers, educators, and clinicians to serve Miami and the wider South Florida community. The Center’s mission was “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” and it paved the way for what was to come. The Center provided funding for research faculty members, the Dr. John T. Macdonald Foundation Fellow in Medical Genetics, professional and public education programs in medical genetics, as well as essential laboratory equipment and supplies. Six new faculty members were 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, in 2005, the Miami GeneCure Diagnostic Laboratory was created. This unique diagnostics resource is a platform for translational research, and offers comprehensive screening and diagnostic testing for prenatal, neonatal, pediatric, and adult diseases and conditions.

In 2007, the Miller School of Medicine was fortunate to attract the highly renowned husband-and-wife geneticists, Margaret Pericak-Vance, Ph.D. and Jeffery Vance, Ph.D., M.D. The Miller School of Medicine subsequently created the Hussman Institute for Human Genomics to house the Vances, along with scores of elite researchers who accompanied them. The Vances have managed to identify genes playing a role in more than 60 human diseases. Dr. Pericak-Vance has more than 400 peer-reviewed papers and has produced milestone genetics findings related to a host of illnesses, including autism, amyotrophic lateral sclerosis, and Alzheimer disease. Dr. Vance is renowned for his expertise in the realm of neurogenetics, as well as human genotyping, cardiovascular genetics, and the molecular aspects of positional cloning of human disease.

In January 2008, the Foundation donated 2 million dollars to fund the Dr. John T. Macdonald Foundation Professor of Human Genomics endowed chair at the Hussman Institute for Human Genomics. Dr. Pericak-Vance was made chair of this new institute. At the same time, the Department of Human Genetics was formed at the University of Miami Leonard M. Miller School of Medicine and was given the name, the Dr. John T. Macdonald Foundation Department of Human Genetics.

Clearly the Foundation’s goal to establish a world class center for medical genetics has come to fruition. We look forward to a continued and expanding relationship with the University Of Miami Miller School Of Medicine and the great work the Vances and their teams are doing. For further information on their work, click here.