Assistant Professor of Clinical Human Genetics

About the Department 

The Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine is a nationally recognized center for clinical genetics, genomic research, and medical education. The Department houses the Medical Genetics Residency Program, the South Florida Newborn Screening Program, and a broad research portfolio spanning genetic disorders, neurogenetics, and inborn errors of metabolism. Faculty provide clinical care through University of Miami Hospital and Clinics/UHealth and Jackson Memorial Hospital, serving a large and diverse South Florida patient population. 

Position Summary 

The Department seeks a board-certified (or board-eligible) Clinical Geneticist to join our Division of Clinical and Translational Genetics, with a clinical and academic focus on inborn errors of metabolism and metabolic genetic disease. This faculty member will help lead metabolic patient care alongside our existing metabolic genetics team, manage a mixed pediatric and adult caseload, and contribute to resident education, newborn screening follow-up, and clinical research. 

This role is modeled on the scope of practice of our current faculty, including responsibility for a substantial portion of the Department's metabolic genetics patients, and offers the opportunity to build a clinical and academic niche within an established, highly collaborative division. 

Key Responsibilities 

• Provide outpatient and inpatient clinical genetics consultation, with an emphasis on but not limited to inborn errors of metabolism (e.g., lysosomal storage disorders, galactosemia, urea cycle disorders, and related conditions) across the pediatric-to-adult lifespan 

• Evaluate, diagnose, and manage patients referred through the Newborn Screening Program, coordinating follow-up testing and long-term management 

• Participate in multidisciplinary clinics and collaborate with specialists in general and specialty genetics clinics and metabolism, biochemical genetics, dietetics/nutrition, neurology, and related fields 

• Order and interpret molecular and biochemical diagnostic testing, and provide treatment, prevention, genetic counseling, and family risk assessment 

• Contribute to teaching and supervision within the Medical Genetics Residency Program, including didactics, case conferences, and bedside/clinic teaching 

• Engage in clinical or translational research, with opportunities to contribute to ongoing studies in rare disease diagnosis (e.g., Undiagnosed Diseases Network-type work) and publish in peer-reviewed journals 

• Participate in departmental committees, quality initiatives, and community/professional education as needed 

Qualifications 

Required: 

• M.D. degree 

• Board certification (or eligibility) in Clinical Genetics through the American Board of Medical Genetics and Genomics (ABMGG), or equivalent 

• Eligible for medical licensure in the State of Florida 

• Strong clinical, communication, and interpersonal skills for working with patients, families, and multidisciplinary teams 

Preferred: 

• Additional training in Pediatrics, Internal Medicine, or Clinical Biochemical Genetics 

• Prior clinical experience managing genetic disorders including inborn errors of metabolism or biochemical genetic disorders 

• Experience with newborn screening follow-up and long-term metabolic disease management 

• Demonstrated interest or experience in resident/fellow teaching 

• Record of scholarly activity (publications, abstracts, presentations) 

Academic Appointment 

Appointment rank (Clinical Assistant Professor, Clinical Associate Professor, or higher) will be commensurate with experience, within the Division of Clinical and Translational Genetics, Department of Human Genetics, University of Miami Miller School of Medicine.