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Sarah Phyllis Young, PhD

Associate Professor of Pediatrics
Campus mail: 801 Capitola Drive, Suite 6, Durham, NC 27713
Phone: (919) 684-4259
Email address: sarah.young@duke.edu

As a clinical biochemical geneticist and a director of the Duke Biochemical Genetics laboratory, my research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. I am actively involved in the development of assays using mass spectrometry and other analytical techniques. My current research on biomarkers for lysosomal storage disorders, such as Fabry and Pompe disease and the mucopolysaccharidoses includes monitoring the response to novel therapies in patients. I also have an interest in neurometabolic disorders such as the creatine deficiency syndromes and sulfite oxidase and molybdenum cofactors. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine. Guanidinoacetate methyltransferase deficiency is a disorder that can be detected in the newborn period and is amenable to dietary therapy, and is thus a good candidate for newborn screening.

Education and Training

  • Ph.D., Institute of Child Health (UK), 1997

Publications

Taylor, Jennifer L., Kristin Clinard, Cynthia M. Powell, Catherine Rehder, Sarah P. Young, Deeksha Bali, Sara E. Beckloff, et al. “The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening..” J Pediatr 211 (August 2019): 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027.

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Halaby, Carine A., Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K. Clinton, Brian Smith, et al. “Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring..” Genet Med, July 2, 2019. https://doi.org/10.1038/s41436-019-0561-7.

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Kang, Hye-Ri, Lauren Waskowicz, Andrea M. Seifts, Dustin J. Landau, Sarah P. Young, and Dwight D. Koeberl. “Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia..” Mol Ther Methods Clin Dev 13 (June 14, 2019): 265–73. https://doi.org/10.1016/j.omtm.2019.02.002.

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Wang, Gensheng, Sarah P. Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, and Dwight D. Koeberl. “Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease..” Mol Ther Methods Clin Dev 13 (June 14, 2019). https://doi.org/10.1016/j.omtm.2019.05.001.

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Van Hove, Johan L. K., Cynthia L. Freehauf, Can Ficicioglu, Loren D. M. Pena, Kerrie L. Moreau, Thomas K. Henthorn, Uwe Christians, et al. “Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial..” J Inherit Metab Dis 42, no. 3 (May 2019): 424–37. https://doi.org/10.1002/jimd.12085.

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Waskowicz, Lauren R., Jin Zhou, Dustin J. Landau, Elizabeth D. Brooks, Andrea Lim, Zollie A. Yavarow, Tsubasa Kudo, et al. “Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia..” Hum Mol Genet 28, no. 1 (January 1, 2019): 143–54. https://doi.org/10.1093/hmg/ddy343.

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Sharer, J Daniel, Irene De Biase, Dietrich Matern, Sarah Young, Michael J. Bennett, Adviye A. Tolun, and Adviye A. ACMG Laboratory Quality Assurance Committee. “Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)..” Genet Med 20, no. 12 (December 2018): 1499–1507. https://doi.org/10.1038/s41436-018-0328-6.

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Nasca, Carla, Benedetta Bigio, Francis S. Lee, Sarah P. Young, Marin M. Kautz, Ashly Albright, James Beasley, et al. “Acetyl-l-carnitine deficiency in patients with major depressive disorder..” Proc Natl Acad Sci U S A 115, no. 34 (August 21, 2018): 8627–32. https://doi.org/10.1073/pnas.1801609115.

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Sharer, J Daniel, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M. C. Wamelink, and Sarah Young. “Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics..” Genet Med 19, no. 2 (February 2017): 256–63. https://doi.org/10.1038/gim.2016.203.

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Sampat, Radhika, Sarah Young, Ami Rosen, Douglas Bernhard, David Millington, Stewart Factor, and H. A. Jinnah. “Potential mechanisms for low uric acid in Parkinson disease..” J Neural Transm (Vienna) 123, no. 4 (April 2016): 365–70. https://doi.org/10.1007/s00702-015-1503-4.

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