Overview
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 Appointments & Affiliations
Recent Publications
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Journal Article Mol Genet Metab · March 2023 Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads t ... Full text Link to item CiteBeyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Journal Article Mol Genet Metab Rep · June 2022 INTRODUCTION: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of t ... Full text Open Access Link to item CiteA retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Journal Article Mol Genet Metab Rep · December 2021 INTRODUCTION: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients ... Full text Open Access Link to item CiteRecent Grants
An Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Dose of mRNA-3745 in Participants with Glycogen Storage Disease Type 1a (GSD1a)
Clinical TrialPrincipal Investigator · Awarded by Moderna Therapeutics, Inc. · 2022 - 2025A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8-mediated Gene Transfer of Glucose-6-phosphatase in Patients With Glycogen Storage Disease Type Ia
Clinical TrialPrincipal Investigator · Awarded by Ultragenyx Pharmaceutical · 2021 - 2025Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX
ResearchInvestigator · Awarded by Kriya Therapeutics · 2022 - 2024View All Grants