Biochemical Fellowship

The Department of Pediatrics' Division of Medical Genetics offers an ACGME-accredited one-year fellowship in Medical Biochemical Genetics. Fellows spend one years in clinical rotations, including training in the general outpatient genetics clinics, inpatient consultations, along with rotations in the Biochemical Genetics Laboratory at ARUP. Opportunities exist within the subspecialty for exposure to all types of metabolic disorders and to active clinical research trials in these conditions. Fellows receive significant experience in the acute and chronic management of patients with metabolic disorders, laboratory, and diagnostic evaluation of unknown metabolic conditions.

Areas of expertise among the faculty include inborn errors of amino acid metabolism (phenylketonuria, homocystinuria, maple syrup urine disease, urea cycle disorders), disorders of carbohydrate metabolism, fatty acid oxidation defects, organic acidemias, lysosomal disorders, disorders of metabolism affecting the brain, and mitochondrial disorders. There is also an Undiagnosed Diseases Program with emphasis on exome/genomic sequence analysis. This educational experience is enriched by the great diversity of presentations and interaction with faculty that hold the practice of mentoring as a priority.

This training program satisfies the requirements for the American Board of Medical Genetics and Genomics examination in Medical Biochemical Genetics.

Clinical Experience

Training sites include Primary Children's Hospital, Primary Children's Eccles Outpatient Services, University of Utah Hospital, ARUP Laboratories (Clinical Cytogenetics, Clinical Molecular Genetics and Clinical Biochemical Genetics training), and Huntsman Cancer Institute at the University of Utah (HCI).

Research

The Pediatrics Medical Biochemical Genetics Fellowship Program collaborates with the Clinical Genetics Research Program (Phenotype Core) and the Utah Genome Program. Both laboratory-based and clinical research experiences are available in multiple metabolic disorders.