Medical Biochemical Genetics is a subspecialty of Medical Genetics that encompasses the evaluation, prevention, treatment, and discovery of diseases due to genetic defects in human biochemical processes. This area of genetics is recognized as a subspecialty by the American Board of Medical Specialties (ABMS). A Medical Biochemical Genetics Fellowship is designed to train a clinical geneticist physician to effectively run a Metabolic Genetics clinic with a focus on the evaluation and treatment of patients with inborn errors of metabolism (IEM). Upon successful completion of training, fellows are eligible to sit for the American Board of Medical Genetics and Genomics (AMBGG) board exams for Medical Biochemical Genetics.

During a Medical Genetics residency, trainees have exposure to Metabolic genetics; however, the allotted time within the metabolic clinic and exposure to metabolic patients is not enough to appreciate the full breath of disorders covered under this specialty nor gain competency in caring for these patients, especially in acute situations. The OHSU Medical Biochemical Genetics Fellowship will offer an additional immersive year in metabolism, such that, upon completion of the fellowship, a trainee has the knowledge and experience of metabolic disorders needed to treat patients in both the acute setting and outpatient clinic. The addition of this fellowship will make our residency program one of only twenty-two Medical Genetics Residencies who also train fellows in medical biochemical genetics.  We expect this new program addition to be available for applicants AY 2024-2025, pending Accreditation Council of Graduate Medical Education (ACGME) accreditation.

Dr. Cary Harding is Program Director and Dr. Kim Kripps is Associate Program Director of the biochemical genetics fellowship training.

Mission Statement

The Medical Biochemical Genetics program at OHSU provides fellows with an immersive year dedicated to the recognition and management of patients with inborn errors of metabolism. Following completion of the fellowship, the fellow will have a comprehensive understanding of the underlying pathways and deficits contributing to inborn biochemical errors and be equipped to diagnose, treat, and counsel these patients, both during times of acute decompensation and in times of stability.

Program Aims

1. To provide fellows experience in both acute and chronic management of patients with inborn errors of metabolism (IEM) including urea cycle defects, organic acidemias, fatty acid oxidations defects, lysosomal storage disorders, and mitochondrial diseases.

2. To give fellows experience with the interpretation, follow-up, and management of abnormal metabolic newborn screens, with the goal to diagnose infants with IEMs early, in the first days of life, so as to prevent acute and sometimes devastating sequelae of their conditions.

3. To further the fellow’s knowledge of the methods and interpretation of biochemical testing which is crucial to the diagnosis of many metabolic conditions.

4. To give the fellow opportunities to engage and participate in research aimed at better understanding and treating inborn errors of metabolism and imparting skills for future incorporation of research in their practice.