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Clinical Biochemical Genetics Fellowship

last modified 2014-07-22 16:10 — by Mark Malcolm
Contact Info

Coordinating Faculty: Nicola Longo, M.D., Ph.D.  Marzia Pasquali, Ph.D. 

Phone Number: (801) 585-3329

Location: ARUP Laboratories

Supporting Staff: Diane Meyer, B.S.  

About Clinical Biochemical Genetics Fellowship

The Department of Pediatrics Division of Medical Genetics in collaboration with the Department of Pathology and ARUP Laboratories offers a two-year fellowship program (with the possibility of an additional year of research) in clinical biochemical genetics. This fellowship provides training in laboratory testing for the diagnosis and follow-up of patients with inherited metabolic disorders. Physicians and Ph.D. scientist fellows participate in the testing conducted by the Biochemical Genetics and Newborn Screening laboratories of ARUP Laboratories, learning chromatographic and mass-spectrometry techniques. Fellows rotate in clinical and laboratory departments to become familiar with medical genetics and inborn errors of metabolism. Research is directed toward the elucidation of the molecular bases/pathophysiology of inborn errors of metabolism and the development of new diagnostic tests for metabolic disorders. Fellows assume progressive independence in conducting and interpreting biochemical laboratory tests in the course of training and need to maintain a logbook of cases for certification.

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


Applicants must hold an M.D. or Ph.D. or other doctoral degree in genetics, biochemistry, chemistry or closely related field from an accredited institution. Previous clinical laboratory experience or a postdoctoral fellowship in genetics or training in medical genetics (for physicians) is highly recommended. Individuals with an M.D. or Ph.D. earned outside of the United States or Canada must have their degree reviewed by the ABMG Credentials Committee prior to entering this training program.

J-1 Visa

The J-1 visa is the required visa for international trainees. This policy is governed by the University of Utah Office of Graduate Medical Education and applies to all Department of Pathology fellowships, regardless of program accreditation or associated degree type.


2 positions


Stipend is commensurate with year of postgraduate training.


D. Hunter Best, Ph.D.
Lorenzo D. Botto, M.D.
John C. Carey, M.D., M.P.H.
Irene De Biase, M.D., Ph.D.
Nicola Longo, M.D., Ph.D., Fellowship Co-Director
Elaine Lyon, Ph.D.
Rong Mao, M.D.
Marzia Pasquali, Ph.D., Fellowship Co-Director
Sarah South, Ph.D.
Reha M. Toydemir, M.D., Ph.D.
David H. Viskochil, M.D., Ph.D.
Tatiana N. Yuzyuk, Ph.D.

Current Fellows

Judith A. Hobert, Ph.D.


Application should be made before December 1 for positions beginning in July. Address inquiries to:

Nicola Longo, M.D., Ph.D.
University of Utah Dept. of Pediatrics
Rm 2C412, 50 N. Medical Drive
Salt Lake City, UT 84132
nicola.longo ~at~
(801) 581-8943

Diane Meyer
Fellowship Coordinator
diane.meyer ~at~
(801) 585-3329
fax (801) 585-7252

The University of Utah School of Medicine does not discriminate on the basis of gender, gender identity/expression, sexual orientation, race, age, religion, color, national origin, disability, genetic information, or veteran’s status.