Medical Biochemical Genetics Fellowship

• Metabolic, Continuity and Therapeutic Lysosomal Disease Clinic – Monday, Thursdays. Urgent NBS follow up-clinics.
• Metabolic consults
• Follow up of positive newborn screening results
• Daily review of plasma amino acids, acylcarnitine profiles and urine organic acids results in the in-house biochemical laboratory.
• Weekly lectures on metabolic pathways and a management of patients with inborn errors of metabolism.
• Weekly metabolic rounds
• Weekly general genetics conference
• Weekly pediatric grand rounds
• Monthly journal clubs
• Monthly fellow case presentation
• 3-week laboratory rotation
• The Ohio Newborn Screening Advisory Committee meetings (Three times a year)
• The North American Metabolic Academy sponsored by the Society for Inherited Metabolic Disorders (If not previously attended)

The fellow will work directly with the attending for acute inpatients, and the attending will expect the fellow to make an initial attempt at suggesting the diagnostic and treatment plan. Over the course of the year the faculty will gradually shift from direct supervision to indirect supervision. In the final 1-2 months of the fellowship, the trainee will provide care with faculty providing oversight.

Fellows will participate in metabolic clinics to learn from the attending physicians, as well as the rest of the comprehensive metabolic team (including the nurse, nurse practitioners, dietician, and genetic counselor).  Later in the training, the trainee will take primary responsibility for determining the management/treatment plan for the patients and providing continuous care. Fellows will have hand-on learning opportunities in enzyme replacement therapy and liver transplant/HSCT as treatment options. 

Fellows will receive broad exposure to the spectrum of IEMs screened in Newborn screening, common false positives, interpretation of extended datasets from the state NBS lab, use of the predictive algorithms to determine relative risk of true positives.

Fellows are expected to provide monthly 30 minute didactic lectures to the Medical Genetics residents and pediatric inpatient ward team on the evaluation and treatment of common metabolic disorders.