Overview
Dr. Stiles is a fellow of the American College of Medical Genetics and Genomics trained in clinical biochemical genetics and molecular genetics. She is co-director of the Duke University Health System Biochemical Genetics Laboratory and external Referral Laboratory. In her work with the Biochemical Genetics laboratory, her research interests focus on improving and developing laboratory diagnostics for rare inborn errors of metabolism. In her role as director of the Referral laboratory, she works closely with hospital leadership on utilization management of genetic send-out tests.
Current Appointments & Affiliations
Associate Professor of Pediatrics
·
2022 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.
Journal Article EBioMedicine · January 2026 BACKGROUND: Pompe disease (PD), caused by acid α-glucosidase (GAA) deficiency, leads to glycogen accumulation in various tissues including the central nervous system. While enzyme replacement therapy (ERT) is lifesaving, it does not cross the blood-brain b ... Full text Link to item CiteTreatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.
Journal Article JIMD Rep · January 2026 Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to sei ... Full text Link to item CiteTimely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Journal Article Mol Genet Metab Rep · December 2025 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is a rare autosomal recessive metabolic disease caused by variants in the HMGCL gene leading to an impairment in leucine catabolism and ketone synthesis. In the United States, HMG-CoA lyase deficien ... Full text Open Access Link to item CiteRecent Grants
Biomarker studies in plasma from patients with Gaucher disease
ResearchPrincipal Investigator · Awarded by Shire Human Genetics Therapies · 2018 - 2025View All Grants
Education, Training & Certifications
University of Texas Southwestern Medical Center, Medical School ·
2013
Ph.D.