Scientific Medical Advisory Board (SMAB)

The members of the Scientific Medical Advisory Board (SMAB) for the Association for Creatine Deficiencies are leaders in their respective fields. Their vast knowledge of molecular and biochemical genetics research translation to clinical application, cannot be overstated. Their contributions make them a vital resource to the ACD by providing important accounts relating to metabolic disorders of creatine transport and synthesis.

Dr. Nicola Longo, M.D., Ph.D.

Dr. Nicola Longo, M.D., Ph.D.

Chief, Division of Medical Genetics
University of Utah Health Care
Pediatrics Medical Genetics

Dr. Longo received his M.D. and Ph.D. in molecular biology and pathology from the University of Parma, School of Medicine in Italy. He trained in Pediatrics, Medical and Biochemical Genetics at Emory University in Atlanta, Georgia, USA. Currently, Dr. Longo is Professor of Pediatrics and Pathology at the University of Utah, Chief of the Division of Medical Genetics, Director of the Metabolic Service in the Department of Pediatrics, Director of the Training Program in Medical Genetics and in Clinical Biochemical Genetics and Medical Co-Director of the Biochemical Genetics and Newborn Screening Laboratories at ARUP laboratories in Salt Lake City. His research concerns the molecular basis of metabolic disorders and their identification through newborn screening. He has an active clinical research program directed toward the development of new therapies for patients with metabolic disorders.

He has a long standing interest in membrane transporters for which he became interested in brain creatine transporter deficiency and disorders of creatine synthesis. He follows several patients with brain creatine deficiency and has an active interest in improving current therapies and facilitating their early identification through newborn screening.

Dr. Bruce Barshop, M.D., Ph.D.

Dr. Bruce Barshop, M.D., Ph.D.

Metabolic and Mitochondrial Medicine
Pediatrics, Rady Children’s Specialty
University of California, San Diego

Bruce Barshop, M.D., Ph.D. is Co-Director of the Biochemical Genetics Laboratory at UCSD. He is a board certified pediatrician and board certified
clinical biochemical and molecular geneticist. He received his A.B. degree from Brandeis University, where he graduated with high honors in the very first class of undergraduates majoring in that Department of Biochemistry. He completed his medical and graduate training at Washington University in St. Louis. His thesis research was with Dr. Carl Frieden, centering on physical biochemistry, pre-steady state enzyme kinetics and computer simulation of chemical kinetics. His pediatric residency training was at UCSD, and he remained for fellowship training under Dr. Nyhan in the Division of Biochemical Genetics. His research activities include disorders of mitochondrial metabolism, and specifically kinetic studies with stable isotope tracers. He has been a practicing physician since 1984.

Dr. Sarah Young, Ph.D.

Dr. Sarah Young, Ph.D.

Assistant Professor, Department of Pediatrics-Medical Genetics
Duke University School of Medicine
North Carolina

Sarah Young is an Assistant Professor in the Department of Pediatrics, in the Duke School of Medicine, and Co-Director of the Duke Biochemical
Genetics Laboratory. She graduated from the Manchester University, UK with a degree in Biochemistry in 1993 and completed a Ph.D. in Biochemistry in 1998 at the Institute of Child Health, University College London. She has worked at the Duke School of Medicine since 1999, completing a fellowship in Clinical Biochemical Genetics in 2005. Her main research interest is the development and application of biomarker assays for rare, inherited metabolic disorders that will improve diagnosis of these conditions, and are useful for monitoring treatments. This includes neurometabolic disorders such as the creatine deficiency syndromes. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine and plasma. Additionally, more rapid methods have been developed using tandem mass spectrometry that can be used for newborn screening.

Dr. Denise Morita, MD

Dr. Denise Morita, MD

Pediatric Neurologist
Granger Medical Clinic, Riverton, Utah

Denise Morita, MD is a Pediatric Neurologist in private practice in Riverton, Utah. She received her B.A. from the University of Washington and completed medical school there as well. She completed Pediatric Neurology residency at the University of Utah. After residency she was on the faculty at the University of Utah School of Medicine, where she was director of the Pediatric Neurology residency program and medical director of the Primary Children’s Hospital Pediatric Education Services. In 2014, she started in private practice in order to devote all her time to providing clinical care to patients and families. She works closely with families of children with seizures due to creatine deficiencies and other causes.