Ashlee R. Stiles | Scholars@Duke

Ashlee R. Stiles
Associate Professor of Pediatrics

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 Research Interests

Biomarkers for Lysosomal Storage Disorders

Current Appointments & Affiliations

Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2022

Contact Information

801-6 Capitola Dr, Durham, NC 27713
801-6 Capitola Drive, Durham, NC 27713
ashlee.stiles@duke.edu

Background
Education, Training, & Certifications
- Clinical Molecular Genetics and Genomics, American Board of Medical Genetics and Genomics 2017 - 2027
- Clinical Biomedical Genetics, American Board of Medical Genetics and Genomics 2015 - 2025
- Ucla, University of California - Los Angeles 2015 - 2016
- Children's Hospital Of Orange County, University of California - Los Angeles 2013 - 2015
- Postdoctoral Fellowship, Dept Of Molecular Genetics, University of Texas Southwestern Medical Center, Medical School 2012 - 2013
- Ph.D., University of Texas Southwestern Medical Center, Medical School 2013
Previous Appointments & Affiliations
- Assistant Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2021 - 2022
- Assistant Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2016 - 2020
Leadership & Clinical Positions at Duke
- Director, Medical Genetics Utilization
Expertise
Subject Headings
Research
Selected Grants
- Biomarker studies in plasma from patients with Gaucher disease awarded by Shire Human Genetics Therapies 2018 - 2024
Fellowships, Supported Research, & Other Grants
- Prospective analysis and continued monitoring of plasma deacylated glucosylceramide (GlcSph) in patients with Gaucher disease awarded by Shire/Takeda 2020 - 2022
- Development of deacylated glucosylceramide (lyso-Gb1) biomarker in plasma samples from Gaucher disease patients and evaluating its’ feasibility in monitoring patients on therapy. awarded by Shire Pharmaceuticals 2018 - 2020
Publications & Artistic Works
Selected Publications
- Academic Articles
  - Barzi, Mercedes, Collin G. Johnson, Tong Chen, Ramona M. Rodriguiz, Madeline Hemmingsen, Trevor J. Gonzalez, Alan Rosales, et al. “Rescue of glutaric aciduria type I in mice by liver-directed therapies.” Sci Transl Med 15, no. 692 (April 19, 2023): eadf4086. https://doi.org/10.1126/scitranslmed.adf4086.
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  - Tayeh, Marwan K., Margaret Chen, Stephanie M. Fullerton, Patrick R. Gonzales, Samuel J. Huang, Lauren J. Massingham, Julianne M. O’Daniel, et al. “The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).” Genet Med 25, no. 3 (March 2023): 100342. https://doi.org/10.1016/j.gim.2022.11.010.
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  - Gayed, Matthew M., Seung-Hye Jung, Erin Huggins, Eleanor Rodriguez-Rassi, Stephanie DeArmey, Priya Sunil Kishnani, and Ashlee R. Stiles. “Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.” Int J Mol Sci 23, no. 23 (November 29, 2022). https://doi.org/10.3390/ijms232314938.
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  - Stiles, Ashlee R., Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, and Priya S. Kishnani. “The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.” Mol Genet Metab Rep 27 (June 2021): 100729. https://doi.org/10.1016/j.ymgmr.2021.100729.
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  - Beasley, James, Patricia McCaw, Haoyue Zhang, Sarah P. Young, and Ashlee R. Stiles. “Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS.” Clin Chim Acta 511 (December 2020): 132–37. https://doi.org/10.1016/j.cca.2020.10.007.
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  - Zhang, Haoyue, Patricia I. Dickson, Ashlee R. Stiles, Agnes H. Chen, Steven Q. Le, Patricia McCaw, James Beasley, David S. Millington, and Sarah P. Young. “Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.” Clin Chim Acta 508 (September 2020): 179–84. https://doi.org/10.1016/j.cca.2020.05.035.
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  - Stiles, Ashlee R., Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha S. Bali, and Sarah P. Young. “A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.” Mol Genet Metab 130, no. 3 (July 2020): 209–14. https://doi.org/10.1016/j.ymgme.2020.04.006.
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  - Young, Sarah, Mireille Tallandier, Olivier Lacombe, Eugeni Entchev, Deeksha Bali, Ashlee Stiles, and Haoyue Zhang. “Characterization of dermatan sulfate and chondroitin sulfate in tissues from a mouse model of mucopolysaccharidosis type VI using UPLC-MS/MS.” Molecular Genetics and Metabolism 129, no. 2 (February 2020): S165–S165. https://doi.org/10.1016/j.ymgme.2019.11.440.
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  - Stiles, Ashlee R., Mariella T. Simon, Alexander Stover, Shaya Eftekharian, Negar Khanlou, Hanlin L. Wang, Shino Magaki, et al. “Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.” Mol Genet Metab 119, no. 1–2 (September 2016): 91–99. https://doi.org/10.1016/j.ymgme.2016.07.001.
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  - Stiles, A. R., L. Venturoni, G. Mucci, N. Elbalalesy, M. Woontner, S. Goodman, and J. E. Abdenur. “New cases of DHTKD1 mutations in patients with 2-ketoadipic aciduria” 25 (January 1, 2016): 15–19. https://doi.org/10.1007/8904_2015_462.
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  - Stiles, Ashlee R., Sacha Ferdinandusse, Arnaud Besse, Vivek Appadurai, Karen B. Leydiker, E. J. Cambray-Forker, Penelope E. Bonnen, and Jose E. Abdenur. “Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.” Mol Genet Metab 115, no. 4 (August 2015): 161–67. https://doi.org/10.1016/j.ymgme.2015.05.008.
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  - Stiles, Ashlee R., Julia Kozlitina, Bonne M. Thompson, Jeffrey G. McDonald, Kevin S. King, and David W. Russell. “Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels.” Proc Natl Acad Sci U S A 111, no. 38 (September 23, 2014): E4006–14. https://doi.org/10.1073/pnas.1413561111.
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  - McDonald, Jeffrey G., Daniel D. Smith, Ashlee R. Stiles, and David W. Russell. “A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma.” J Lipid Res 53, no. 7 (July 2012): 1399–1409. https://doi.org/10.1194/jlr.D022285.
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  - Stiles, A. R., and D. W. Russell. “SRD5A3: A Surprising Role in Glycosylation.” Cell 142, no. 2 (January 1, 2010): 196–98. https://doi.org/10.1016/j.cell.2010.07.003.
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  - Stiles, Ashlee R., Jeffrey G. McDonald, David R. Bauman, and David W. Russell. “CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.” J Biol Chem 284, no. 42 (October 16, 2009): 28485–89. https://doi.org/10.1074/jbc.R109.042168.
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- Conference Papers
  - Hemmingsen, M. G., M. Barzi, T. Chen, S. Collias, J. Beasley, G. Zhang, Y. Ma, et al. “Validation of therapeutic strategies in a novel compound heterozygote model of Methylmalonic Acidemia.” In Human Gene Therapy, 33:A174–A174, 2022.
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  - Coker, Jennifer, Ashlee R. Stiles, Deeksha Bali, Sara P. Young, Marie T. McDonald, and Areeg El-Gharbawy. “Phenotypic target organ and biomarker variation within a family with late onset Fabry disease.” In Molecular Genetics and Metabolism, 132:S27–S27. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.045.
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  - Mendez, Roberto, Deeksha Bali, Ashlee Stiles, Haoyue Zhang, Cindy Li, Janet Blount, Catherine Rehder, Priya Kishnani, and Sarah Young. “Urinary glucose tetrasaccharide correlates with phenotype in Pompe disease in the newborn period.” In Molecular Genetics and Metabolism, 132:S11–12, 2021.
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  - Stiles, Ashlee, Kari Ryan, and Michael Datto. “Utilization of in-patient genetic testing services at Duke University Health System.” In Molecular Genetics and Metabolism, 132:S338–39, 2021.
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  - Young, Sarah, Haoyue Zhang, James Beasley, Patricia McCaw, Deeksha Bali, Seung-Hye Jung, Priya Kishnani, and Ashlee Stiles. “EVALUATION OF PLASMA GLUCOSYLSPHINGOSINE AND GALACTOSYLSPHINGOSINE IN PATIENTS WITH GAUCHER DISEASE.” In Molecular Genetics and Metabolism, 127:312–13. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.
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  - Young, Sarah, Haoyue Zhang, James Beasley, Patricia McCaw, Deeksha Bali, Seung-Hye Jung, Priya Kishnani, and Ashlee Stiles. “EVALUATION OF PLASMA GLUCOSYLSPHINGOSINE AND GALACTOSYLSPHINGOSINE IN PATIENTS WITH GAUCHER DISEASE.” In Molecular Genetics and Metabolism, 126:336–336. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019.
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  - Stiles, Ashlee, Deeksha Bali, Haoyue Zhang, James Beasley, Patricia McCaw, and Sarah Young. “Quantification of glucosylsphingosine in plasma/serum by UPLC-MS/MS.” In Molecular Genetics and Metabolism, 126:S139–40. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.359.
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  - Young, Sarah, Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Denise Peterson, Ashlee Stiles, Marie McDonald, Dwight Koeberl, and Deeksha Bali. “Plasma lyso-Gb3 as a diagnostic marker for Fabry disease.” In Molecular Genetics and Metabolism, 123:S151–S151. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.421.
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Teaching & Mentoring
Advising & Mentoring
- Medical Biochemical Genetics Fellows
Teaching Activities
- Didactic lectures to ACGME fellows at the medical genetics case conference in: clinical genetics, laboratory genetics and genomics, medical biochemical genetics, clinical biochemical genetics as well as residents and rotating students.
  Lecture Topics:
  Fatty Acid Oxidation
  Peroxisomal Metabolism
  Purines and Pyrimidines
Scholarly, Clinical, & Service Activities
Presentations & Appearances
- Utilization of Urine Organic Acid Analysis in the Diagnostic Work-up of Patients with AADC Deficiency. Exposing a neurotransmitter disorder in hiding using urinary organic acid analysis. PTC Therapeutics. March 24, 2020 - May 8, 2020 2020
- Challenges in the Referral Laboratory. NCMGA. October 6, 2017 2017
Service to the Profession
- ACMG Laboratory Quality Assurance Committee. American College of Medical Genetics and Genomics. April 16, 2019 2019
Service to Duke

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Education, Training, & Certifications

Previous Appointments & Affiliations

Leadership & Clinical Positions at Duke

Subject Headings

Selected Grants

Fellowships, Supported Research, & Other Grants

Selected Publications

Academic Articles

Conference Papers

Advising & Mentoring

Teaching Activities

Presentations & Appearances

Service to the Profession

Service to Duke