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Ashlee R. Stiles

Associate Professor of Pediatrics
Pediatrics, Medical Genetics
801-6 Capitola Dr, Durham, NC 27713
801-6 Capitola Drive, Durham, NC 27713

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


Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.

Journal Article Mol Genet Metab Rep · March 2025 GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1 g ... Full text Link to item Cite

Quantification of Glycosaminoglycans in Urine by Isotope Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry.

Journal Article Curr Protoc · February 2025 Mucopolysaccharidoses (MPSs) are complex lysosomal diseases that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, and tissues. Lysosomal enzymes responsible for GAG degradation are defective in MPSs. GAGs including chondroitin sulfa ... Full text Link to item Cite

Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Journal Article Genet Med · January 2025 Measurement of lysosomal disease (LD) biomarkers can reveal valuable information about disease status. Lyso-globotriaosylceramide (lyso-Gb3), glucosylsphingosine (lyso-Gb1), galactosylsphingosine (psychosine), and glucose tetrasaccharide (Glca1-6Glca1-4Glc ... Full text Link to item Cite
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Recent Grants


Biomarker studies in plasma from patients with Gaucher disease

ResearchPrincipal Investigator · Awarded by Shire Human Genetics Therapies · 2018 - 2025

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Education, Training & Certifications


University of Texas Southwestern Medical Center, Medical School · 2013 Ph.D.