• 1826 Citations
19992020

Research output per year

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Personal profile

Research interests

My research interests focus on three areas: 1) Identification of new biomarkers using liquid chromatography-tandem mass spectrometry (LC-MS/MS) metabolomics 2) Development and implementation of LC-MS/MS clinical laboratory tests 3) Development and validation of LC-MS/MS methods for quantification of biomarkers and drugs to support clinical trials I have discovered long chain ceramides as biomarkers for diabetic cardiovascular disease and bile acid markers for NPC disease. I have developed and implemented an oxysterol diagnostic blood test for NPC disease, and 24-hydroxycholesterol and 2-hydroxypropyl-ß-cyclodextrin assays for a Phase 1 clinical trial. One of current efforts is to develop diagnostic test and newborn screening method for NPC disease using the bile acid markers.

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Research Output

  • 1826 Citations
  • 56 Article
  • 2 Comment/debate
  • 2 Review article
  • 1 Chapter

Alterations in plasma triglycerides and ceramides: Links with cardiac function in humans with type 2 diabetes

Peterson, L. R., Jiang, X., Chen, L., Goldberg, A. C., Farmer, M. S., Ory, D. S. & Schaffer, J. E., Jul 2020, In : Journal of lipid research. 61, 7

Research output: Contribution to journalArticle

  • A novel gene editing system to treat both Tay–Sachs and Sandhoff diseases

    Ou, L., Przybilla, M. J., Tăbăran, A. F., Overn, P., O’Sullivan, M. G., Jiang, X., Sidhu, R., Kell, P. J., Ory, D. S. & Whitley, C. B., May 1 2020, In : Gene therapy. 27, 5, p. 226-236 11 p.

    Research output: Contribution to journalArticle

  • 6 Scopus citations

    Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

    Sidhu, R., Kell, P., Dietzen, D. J., Farhat, N. Y., Do, A. N. D., Porter, F. D., Berry-Kravis, E., Vite, C. H., Reunert, J., Marquardt, T., Giugliani, R., Lourenço, C. M., Bodamer, O., Wang, R. Y., Plummer, E., Schaffer, J., Ory, D. S. & Jiang, X., Apr 2020, In : Molecular genetics and metabolism. 129, 4, p. 292-302 11 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease)

    Corado, C. R., Pinkstaff, J., Jiang, X., Galban, E. M., Fisher, S. J., Scholler, O., Russell, C., Bagel, J. H., ODonnell, P. A., Ory, D. S., Vite, C. H. & Bradbury, A. M., Jan 2020, In : Molecular and Cellular Neuroscience. 102, 103451.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Krabbe disease successfully treated via monotherapy of intrathecal gene therapy

    Bradbury, A. M., Bagel, J. H., Nguyen, D., Lykken, E. A., Salvador, J. P., Jiang, X., Swain, G. P., Assenmacher, C. A., Hendricks, I. J., Miyadera, K., Hess, R. S., Ostrager, A., ODonnell, P., Sands, M. S., Ory, D. S., Shelton, G. D., Bongarzone, E. R., Gray, S. J. & Vite, C. H., Sep 1 2020, In : Journal of Clinical Investigation. 130, 9, p. 4906-4920 15 p.

    Research output: Contribution to journalArticle