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A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

2021; Nature Portfolio; Volume: 8; Issue: 1 Linguagem: Inglês

10.1038/s41597-021-00894-y

2052-4463

Jennifer Kyle, Kelly G. Stratton, Erika Zink, Young‐Mo Kim, Kent Bloodsworth, Matthew Monroe, Carlos A. Bacino, Neil A. Hanchard, Richard A. Lewis, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Patricia A. Ward, Lindsay C. Burrage, Gary Clark, Mercedes E. Alejandro, Jennifer E. Posey, Michael F. Wangler, Brendan Lee, William J. Craigen, Hugo J. Bellen, Sarah K. Nicholas, Bret L. Bostwick, Susan L. Samson, Alica M. Goldman, Paolo Moretti, Christine M. Eng, Donna M. Muzny, James P. Orengo, Tiphanie P. Vogel, Seema R. Lalani, David R. Murdock, Mahshid S. Azamian, Jordan S. Orange, Lisa Emrick, Shweta U. Dhar, Ashok Balasubramanyam, Lorraine Potocki, Shinya Yamamoto, Yaping Yang, Shan Chen, Fariha Jamal, Lefkothea Karaviti, Ronit Marom, Sharyn A. Lincoln, Chris A. Walsh, Alan H. Beggs, Lance H. Rodan, Joan M. Stoler, Gerard T. Berry, Laurel A. Cobban, Calum A. MacRae, Joel B. Krier, Edwin K. Silverman, Elizabeth L. Fieg, Richard L. Maas, Joseph Loscalzo, Aaron W. Aday, Susan Korrick, David B. Goldstein, Nicholas Stong, Jennifer A. Sullivan, Rebecca C. Spillmann, Loren D.M. Peña, Queenie K.‐G. Tan, Sophie Nicole, Yong‐hui Jiang, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Heidi Cope, Ingrid A. Holm, Isaac S. Kohane, Alexa T. McCray, Cecilia Esteves, Kimberly LeBlanc, Matthew Might, Emily G. Kelley, Elizabeth A. Worthey, Daniel C. Dorset, Braden Boone, Shawn Levy, Camille L. Birch, Angela Jones, Donna M. Brown, David Bick, J. Scott Newberry, Jozef Lazar, Thomas May, David A. Sweetser, Lauren C. Briere, J. Carl Pallais, Cynthia M. Cooper, Frances A. High, Melissa Walker, Heather A. Colley, Laura A. Mamounas, Teri A. Manolio, Elizabeth A. Burke, Rena A. Godfrey, Catherine Groden, William A. Gahl, Lynne A. Wolfe, Thomas C. Markello, C. Christopher Lau, David D. Draper, Sarah E. Gould, Michele Nehrebecky, Colleen E. Wahl, Gabriel F. Batzli, Ellen F. Macnamara, Jyoti G. Dayal, David J. Eckstein, John J. Mulvihill, Cynthia J. Tifft, Tiina K. Urv, Anastasia L. Wise, Jennifer L. Murphy, Andrea Gropman, Ellen M. Howerton, Donna M. Krasnewich, Jean M. Johnston, Barbara N. Pusey, David R. Adams, Valerie V. Maduro, May Christine V. Malicdan, Mariska Davids, Tyra Estwick, Donna Novacic, Prashant Sharma, Camilo Toro, Guoyun Yu, Babak Behnam, Precilla D’Souza, Carlos Ferreira, Marie Morimoto, Eva H. Baker, John Yang, Jean-Philippe F. Gourdine, Matthew Brush, Melissa Haendel, Euan A. Ashley, Jonathan A. Bernstein, Jacinda B. Sampson, Diane B. Zastrow, Noah D. Friedman, Jason D. Merker, Colleen E. McCormack, Paul G. Fisher, Jean M. Davidson, Annika M. Dries, Gregory M. Enns, Marta M. Majcherska, Chloe M. Reuter, Daryl Waggott, Jennefer N. Kohler, Terra R. Coakley, Kevin S. Smith, Matthew T. Wheeler, Devon Bonner, Liliana Fernández, Jason Hom, Yong Huang, Shruti Marwaha, Chunli Zhao, Julián A. Martínez-Agosto, Esteban C. Dell’Angelica, Jeanette C. Papp, Emilie D. Douine, Stan F. Nelson, Martín G. Martín, Christina G.S. Palmer, Neil H. Parker, Manish J. Butte, Amanda J. Yoon, Sandra K. Loo, Brent L. Fogel, Katrina M. Dipple, Janet S. Sinsheimer, Patrick Allard, Hayk Barseghyan, Naghmeh Dorrani, Hane Lee, Éric Vilain, Ascia Eskin, Genecee Renteria, Rebecca Signer, Jijun Wan, Allison Zheng, Monte Westerfield, John A. Phillips, Joy D. Cogan, John H. Newman, Amy K. Robertson, Rizwan Hamid, Anna Bican, Elly Brokamp, Laura Duncan, Mary Kozuira, Lynette Rives, Lisa Shakachite, Katrina M. Waters, Bobbie‐Jo Webb‐Robertson, David M. Koeller, Thomas Metz,

Genetic Associations and Epidemiology

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.