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Sarah Young, PhD

Sarah Young, PhD   
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(919) 549-0445 Main Office

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Biochem Lab
Diagnostic Lab Director

Centers & Contact Information
Sarah Young is an Assistant Professor in the Department of Pediatrics, in the Duke School of Medicine, and Co-Director of the Duke Biochemical Genetics Laboratory. She graduated from the Manchester University, UK with a degree in Biochemistry in 1993 and completed a Ph.D. in Biochemistry in 1998 at the Institute of Child Health, University College London. She has worked at the Duke School of Medicine since 1999, completing a fellowship in Clinical Biochemical Genetics in 2005. Her main research interest is the development and application of biomarker assays for rare, inherited metabolic disorders that will improve diagnosis of these conditions, and are useful for monitoring treatments. This includes neurometabolic disorders such as the creatine deficiency syndromes. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine and plasma. Additionally, more rapid methods have been developed using tandem mass spectrometry that can be used for newborn screening.


1993 Biochemistry B.Sc. (Hons) University of Manchester, U.K.

1998 Biochemistry Ph.D. University College London, U.K.

2005 ABMG certification in Clinical Biochemical Genetics

Selected Publications
  1. El-Gharbawy A.H., Goldstein J.L., Millington D.S., Vaisnins A.E., Schlune A., Barshop B.A., Schulze A.,Koeberl D.D., Young S.P. (2013) Elevation of Guanidinoacetate in Newborn Dried Blood Spots and Impact of Early Treatment in GAMT Deficiency, Mol Genet Metab. 109:215-7.
  2. Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J and Venditti CP (2013) Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. . Proc Natl Acad Sci USA. 110:13552-7. doi: 10.1073/pnas.1302764110.
  3. Farah BL, Madden L, Li S, Nance S, Bird A, Bursac N, Yen PM, Young SP and Koeberl DD (2014) Adjunctive beta2-agonist treatment reduces glycogen independently of receptor-mediated acid alpha-glucosidase uptake in the limb muscles of mice with Pompe disease. FASEB J 28:2272-80.
  4. Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D and Kishnani PS (2014) Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J 28:2171-6
  5. Houten SM, Denis S, te Brinke H, Jongejan A, van Kampen AHC, Bradley EJ, Baas F, Hennekam RCM, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M and Wanders RJA (2014) Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet.23:5009-16.
  6. Zhang H, Wood T, Young SP, Millington DS. (2015) A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses. Mol Genet Metab.114:123-8
  7. Prasun P, Young S, Salomons G, Werneke A, Jiang YH, Struys E, Paige M, Avantaggiati ML, McDonald M. (2015) Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. JIMD Rep.19:111-5.
  8. Chien Y-Y, Goldstein JL, Hwu W-L, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP. (2015) Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile and Late-Onset Pompe Disease Identified by Newborn Screening JIMD Rep.19:67-73.
  9. Nilsson MI, MacNeil LG, Kitaoka Y, Suri R, Young SP, Kaczor JJ, Nates NJ, Ansari MU, Wong T, Ahktar M, Brandt L, Hettinga BP, Tarnopolsky MA Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease. Free Radic Biol Med. 2015 May 19. pii: S0891-5849(15)00230-0. doi: 10.1016/j.freeradbiomed.2015.05.019. [Epub ahead of print]PMID: 26001726

SERN Highlights
March 2018

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
JELILI OJODU, MPH | Director, Newborn Screening and Genetics
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