Division of Medical Genetics

The Division of Medical Genetics at the University of Miami Miller School of Medicine is involved in the care of infants, children, adolescents and adults with concerns about heritable or genetic conditions. An excellent team of board-certified medical geneticists led by Division of Medical Genetics chief of service, Dr. Barbouth, provides care to patients with concerns about a wide variety of conditions. Medical Genetics - a specialty recognized by the American Medical Association - is involved in the prevention, diagnosis, and management of a wide variety of conditions. Examples of conditions that fall within the competency of medical geneticists include birth defects, exposure to teratogens and dysmorphology, developmental delay/mental retardation, inborn errors of metabolism and mitochondrial disorders, skeletal dysplasias, and connective tissue disorders. Prenatal diagnosis, in collaboration with obstetricians, radiologists, and perinatalogists is another area of patient care.

The Division is also responsible for retrieval, diagnosis and management of infants with an abnormal newborn screening result - a program initiated by the Florida Department of Health that aims to reduce morbidity and mortality in infants with metabolic disorders. While originating out of Pediatrics, Medical Genetics is not confined to pediatric age groups; local physicians are referring increasing numbers of adults. Conditions seen in adults include areas of cancer genetics, neurodegenerative disorders, as well as cardiovascular disorders, such as arrhythmias and cardiomyopathies. Medical geneticists and genetic counselors in the Division may also be consulted for risk assessment and genetic counseling. The Division of Medical Genetics prides itself in using a family-centered approach, and functions within a team of professionals from areas of Genetic Counseling, Metabolic Nutrition and Family Support.

The Division provides state-of-the-art diagnostic facilities in the areas of Biochemical Genetics and Molecular Genetics.  They also actively collaborate with other subspecialties within Pediatrics, Internal Medicine, and Obstetrics/Gynecology.

General Genetics Clinics are available in UM Mailman Center for Child Development (MCCD), at Jackson Memorial Hospital and at UM Kendall. Specialty clinics include: Metabolic Disorders Clinic, Neuro-Genetics Clinic, Huntington Disease Clinic, Muscular Dystrophy Clinic, Cleft Lip and Palate Clinic, Genodermatoses, Vascular Anomaly Clinic, and Cancer Genetics Clinic. The Division of Medical Genetics aims to accommodate referrals promptly, to provide family-centered care, and to communicate actively with patients, families and the referring physicians.