Undiagnosed Diseases Network Metabolomics Core
EMSL Project ID
49184
Abstract
A state of the art metabolomics core will be a vital part of the Undiagnosed Diseases Network (UDN). However, in order for the UDN to realize it’s the full potential it is essential that the metabolomics core doesn’t simply function as a high tech referral lab. We propose the formation of a partnership that will combine the state of the art analytical capabilities of the Pacific Northwest National Laboratory (PNNL), with clinical, genetic, and bioinformatics expertise from Oregon Health & Science University (OHSU), to create a metabolomics core that functions as a fully integrated component of the network. The integration of this combined expertise will facilitate the linkage of novel metabolites or patterns of metabolites identified by the metabolomics core to the underlying metabolic and genetic derangements, as well as clinical signs and symptoms, and to translate this knowledge into specific clues regarding the genetic etiology of the patient’s disorder. The following specific aims describe the approach we will use to create the UDN Metabolomics Core (UDNMC).
Project Details
Start Date
2015-11-02
End Date
2018-09-30
Status
Closed
Released Data Link
Team
Principal Investigator
Team Members
Related Publications
Blanco-Sanchez B., A. Clément, S.J. Stednitz, J.E. Kyle, J.L. Peirce, M. McFadden, and J. Wegner, et al. 2020. "yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development." PLoS Genetics. PNNL-SA-147624. doi:10.1371/journal.pgen.1008841
06/16/2020
Nakayasu E.S., F. Syed, S. Tersey, M.A. Gritsenko, H.D. Mitchell, C. Chan, and J. Turatsinze, et al. 2020. "Comprehensive proteomics analysis of stressed human islets identifies GDF15 as a target for type 1 diabetes intervention." Cell Metabolism 31, no. 2:363-374.e6. PNNL-SA-150166. doi:10.1016/j.cmet.2019.12.005
Oláhová M, WH Yoon, K Thompson, S Jangam, L Fernandez, JM Davidson, JE Kyle, ME Grove, DG Fisk, JN Kohler, MJ Holmes, AM Dries, Y Huang, C Zhao, K Contrepois, Z Zappala, L Fresard, D Waggott, EM Zink, YM Kim, HM Heyman, KG Stratton, BJM Webb-Robertson, D Adams, ME Alejandro, P Allard, MS Azamian, CA Bacino, A Balasubramanyam, H Barseghyan, GF Batzli, M Snyder, JD Merker, SR Beck-Montgomery, PG Fisher, RG Feichtinger, JA Mayr, J Hall, IA Barbosa, MA Simpson, C Deshpande, KM Waters, D Koeller, TO Metz, A Morris, S Schelley, T Cowan, MW Friederich, R Mcfarland, LL Van Hove, G Enns, S Yamamoto, EA Ashley, ME Wangler, RW Taylor, HJ Bellen, J Bernstein, and M Wheeler. 2018. "Biallelic Mutations in ATP5D, a Subunit of ATP Synthase, Cause a Metabolic Disorder." American Journal of Human Genetics 102(3):494-504. doi:10.1016/j.ajhg.2018.01.020
Webb-Robertson B.M., K.G. Stratton, J.E. Kyle, Y. Kim, L.M. Bramer, K.M. Waters, and D. Koeller, et al. 2020. "Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network." Analytical Chemistry. PNNL-SA-145014. doi:10.1021/acs.analchem.9b03522