@article{d1e3c15f512c4686ba9575077328e2cb,
title = "A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases",
abstract = "Every year individuals experience symptoms that remain undiagnosed by healthcare providers. In the United States, these rare diseases are defined as a condition that affects fewer than 200,000 individuals. However, there are an estimated 7000 rare diseases, and there are an estimated 25–30 million Americans in total (7.6–9.2% of the population as of 2018) affected by such disorders. The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Mass spectrometry-based metabolomics and lipidomics analyses could advance the collective understanding of individual symptoms and advance diagnoses for individuals with heretofore undiagnosed disease. Here, we report the mass spectrometry-based metabolomics and lipidomics analyses of blood plasma, urine, and cerebrospinal fluid from 148 patients within the UDN and their families, as well as from a reference population of over 100 individuals with no known metabolic diseases. The raw and processed data are available to the research community so that they might be useful in the diagnoses of current or future patients suffering from undiagnosed disorders.",
author = "{Undiagnosed Diseases Network} and Kyle, {Jennifer E.} and Stratton, {Kelly G.} and Zink, {Erika M.} and Kim, {Young Mo} and Bloodsworth, {Kent J.} and Monroe, {Matthew E.} and Bacino, {Carlos A.} and Hanchard, {Neil A.} and Lewis, {Richard A.} and Rosenfeld, {Jill A.} and Scott, {Daryl A.} and Tran, {Alyssa A.} and Ward, {Patricia A.} and Burrage, {Lindsay C.} and Clark, {Gary D.} and Alejandro, {Mercedes E.} and Posey, {Jennifer E.} and Wangler, {Michael F.} and Lee, {Brendan H.} and Craigen, {William J.} and Bellen, {Hugo J.} and Nicholas, {Sarah K.} and Bostwick, {Bret L.} and Samson, {Susan L.} and Goldman, {Alica M.} and Moretti, {Paolo M.} and Eng, {Christine M.} and Muzny, {Donna M.} and Orengo, {James P.} and Vogel, {Tiphanie P.} and Lalani, {Seema R.} and Murdock, {David R.} and Azamian, {Mahshid S.} and Orange, {Jordan S.} and Emrick, {Lisa T.} and Dhar, {Shweta U.} and Ashok Balasubramanyam and Lorraine Potocki and Shinya Yamamoto and Yaping Yang and Shan Chen and Fariha Jamal and Lefkothea Karaviti and Ronit Marom and Lincoln, {Sharyn A.} and Walsh, {Chris A.} and Beggs, {Alan H.} and Matthew Brush and Melissa Haendel and Koeller, {David M.}",
note = "Funding Information: We are grateful for the participation of patients, family members, and their referring clinicians. We would also like to thank the UDN investigators and the following individuals, institutions and funding sources for the donation of reference samples: Dr. Mary Samuels at Oregon Health Science University (via the Oregon Clinical and Translational Research Institute, supported by the National Center for Advancing Translational Sciences of the NIH under award number UL1TR0000128); Dr. Joseph Quinn at Oregon Health Science University (via the Oregon Alzheimer{\textquoteright}s Disease Center Biorepository, supported by grant number NIA-AG008017 from the NIH National Institute on Aging); Dr. Rizwan Hamid at the Vanderbilt University Medical Center; and Dr. Devin Oglesbee at Mayo Clinic (with support by Mayo Clinic{\textquoteright}s Department of Laboratory Medicine and Pathology). This work was funded by the Undiagnosed Diseases Network (1U01TR001395) supported by the National Institutes of Health Common Fund Program. Mass spectrometry analyses were performed in the Environmental Molecular Sciences Laboratory, a national scientific user facility sponsored by the Department of Energy (DOE) Office of Biological and Environmental Research and located at Pacific Northwest National Laboratory (PNNL). PNNL is operated by Battelle Memorial Institute for the DOE under contract DEAC05-76RLO1830. Publisher Copyright: {\textcopyright} Battelle Memorial Institute 2021.",
year = "2021",
month = dec,
doi = "10.1038/s41597-021-00894-y",
language = "English (US)",
volume = "8",
journal = "Scientific data",
issn = "2052-4463",
publisher = "Nature Publishing Group",
number = "1",
}