Areeg Hassan El-Gharbawy
Associate Professor of Pediatrics

I am an Associate Professor in the Department of Pediatrics, Division of Medical Genetics at Duke University; pursuing a career in clinical/translational research with 70% protected time for research. My clinical background is broad encompassing residency and fellowship training in internal medicine, endocrinology, diabetes, nutrition, metabolism, and clinical and biochemical genetics. This uniquely positioned me to evaluate and study pediatric and adult patients with inborn errors of metabolism, mitochondrial disorders, and lysosomal storage diseases. I transitioned from clinical medicine to a career in translational research to address the needs of patients with rare inherited metabolic disorders due to the paucity of therapies and biomarkers. My strength comes from my experience in managing patients with different inborn errors of metabolism and optimizing their treatment based on their underlying clinical, molecular, and biochemical phenotypes. In the era of precision medicine and big data analysis, my aim is to utilize my clinical skills and available tools at Duke University to conduct studies with implications for new drug, mechanism, and biomarker discovery. Studies are and will be conducted at Duke clinical research center in collaboration with clinical and basic scientists including Priya Kishnani, MD, Dwight Koeberl MD, Ph.D., and Karl-Dimiter Bissig MD, Ph.D. who are well established and funded clinical and basic science investigators at Duke. This collaboration allows me to integrate clinical data generated from natural history studies, with result from animal models, and metabolomics. This has implications for discovering innovative therapies, mechanisms, and biomarkers that serve and optimize patient care. I am currently analyzing metabolomics data on patients with Glycogen storage diseases and new therapeutics. I hold an IND on a PI initiated (industry-funded) clinical trial (pilot study) for using triheptanoin an anaplerotic compound that promotes energy through the Krebs cycle in patients with glycogen storage disease type 1.

Current Research Interests

Glycogen Storage diseases type I, III, IV
Fabry disease
Severe Infantile Liver Failure Syndrome Type 1 caused by mutations in Leucine-tRNA Synthetase 
Glutaric aciduria type 1 
Fatty acid oxidation defects and Barth syndrome
Areas of interest
Novel therapies for genetic disorders 
Metabolomics and biomarkers

Current Appointments & Affiliations

Contact Information

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