Gynecology & Obstetrics
Open Access

Marta Frigeni

Biography

I was born and educated in Italy, where I was awarded the title of Doctor in Medicine and Surgery (M.D.) after completing a Master's course in Medicine and Surgery at the University of Milan, Faculty of Medicine. During my basic science years in Medical School, I became particularly interested in biochemistry and metabolism. In 2012 I was awarded a scholarship to carry out a medical rotation in the Division of Medical Genetics at the University of Utah in Salt Lake City (USA), where I attended the Metabolic and Genetics Clinics under the mentorships of world-class experts in the field, soon becoming interested in inborn errors of metabolism. I was impressed to see the profound effect of dietary and other types of therapies on the outcome of patients with rare inborn error of metabolism, many of which can be diagnosed early in life by the national newborn screening. After my graduation in July 2013, I completed a Medical Research Scholar program at the University of Utah, Division of Medical Genetics, working on Fatty Acid Oxidation Defects. I was soon offered a Post-Doctoral Research Fellow position that I started in March 2014. My research focuses on genetic defects of intracellular-membrane transport, such as Primary Carnitine Deficiency and Creatine Transporter Deficiency. My experience in both the clinic and laboratory settings has been determinant in making the decision to continue my career in Pediatrics and Medical Genetics in the United States. My goal is to continue my training as a physician, and to keep doing research on rare inherited metabolic disorders in order to find new therapies for them.

Research Interest

Rare inherited metabolic disorders