A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
Authors: Kyle Jennifer E. , Stratton Kelly G. , Zink Erika M. , Kim Young-Mo , Bloodsworth Kent J. , Monroe Matthew E. ,   Undiagnosed Diseases Network, Bacino Carlos A. , Hanchard Neil A. , Lewis Richard A. , Rosenfeld Jill A. , Scott Daryl A. , Tran Alyssa A. , Ward Patricia A. , Burrage Lindsay C. , Clark Gary D. , Alejandro Mercedes E. , Posey Jennifer E. , Wangler Michael F. , Lee Brendan H. , Craigen William J. , Bellen Hugo J. , Nicholas Sarah K. , Bostwick Bret L. , Samson Susan L. , Goldman Alica M. , Moretti Paolo M. , Eng Christine M. , Muzny Donna M. , Orengo James P. , Vogel Tiphanie P. , Lalani Seema R. , Murdock David R. , Azamian Mahshid S. , Orange Jordan S. , Emrick Lisa T. , Dhar Shweta U. , Balasubramanyam Ashok , Potocki Lorraine , Yamamoto Shinya , Yang Yaping , Chen Shan , Jamal Fariha , Karaviti Lefkothea , Marom Ronit , Lincoln Sharyn A. , Walsh Chris A. , Beggs Alan H. , Rodan Lance H. , Stoler Joan M. , Berry Gerard T. , Cobban Laurel A. , MacRae Calum A. , Krier Joel B. , Silverman Edwin K. , Fieg Elizabeth L. , Maas Richard L. , Loscalzo Joseph , Aday Aaron , Korrick Susan , Goldstein David B. , Stong Nicholas , Sullivan Jennifer A. , Spillmann Rebecca C. , Pena Loren D. M. , Tan Queenie K.-G. , Walley Nicole M. , Jiang Yong-hui , McConkie-Rosell Allyn , Schoch Kelly , Shashi Vandana , Cope Heidi , Holm Ingrid A. , Kohane Isaac S. , McCray Alexa T. , Esteves Cecilia , LeBlanc Kimberly , Might Matthew , Kelley Emily , Worthey Elizabeth A. , Dorset Daniel C. , Boone Braden E. , Levy Shawn E. , Birch Camille L. , Jones Angela L. , Brown Donna M. , Bick David P. , Newberry J. Scott , Lazar Jozef , May Thomas , Sweetser David A. , Briere Lauren C. , Pallais J. Carl , Cooper Cynthia M. , High Frances , Walker Melissa , Colley Heather A. , Mamounas Laura A. , Manolio Teri A. , Burke Elizabeth A. , Godfrey Rena A. , Groden Catherine A. , Gahl William A. , Wolfe Lynne A. , Markello Thomas C. , Lau C. Christopher , Draper David D. , Gould Sarah E. , Nehrebecky Michele E. , Wahl Colleen E. , Batzli Gabriel F. , Macnamara Ellen F. , Dayal Jyoti G. , Eckstein David J. , Mulvihill John J. , Tifft Cynthia J. , Urv Tiina K. , Wise Anastasia L. , Murphy Jennifer L. , Gropman Andrea L. , Howerton Ellen M. , Krasnewich Donna M. , Johnston Jean M. , Pusey Barbara N. , Adams David R. , Maduro Valerie V. , Malicdan May Christine V. , Davids Mariska , Estwick Tyra , Novacic Donna , Sharma Prashant , Toro Camilo , Yu Guoyun , Behnam Babak , D’Souza Precilla , Ferreira Carlos , Morimoto Marie , Baker Eva H. , Yang John , Gourdine Jean-Philippe F. , Brush Matthew , Haendel Melissa , Ashley Euan A. , Bernstein Jonathan A. , Sampson Jacinda B. , Zastrow Diane B. , Friedman Noah D. , Merker Jason D. , McCormack Colleen E. , Fisher Paul G. , Davidson Jean M. , Dries Annika M. , Enns Gregory M. , Majcherska Marta M. , Reuter Chloe M. , Waggott Daryl M. , Kohler Jennefer N. , Coakley Terra R. , Smith Kevin S. , Wheeler Matthew T. , Bonner Devon , Fernandez Liliana , Hom Jason , Huang Yong , Marwaha Shruti , Zhao Chunli , Martínez-Agosto Julian A. , Dell’Angelica Esteban C. , Papp Jeanette C. , Douine Emilie D. , Nelson Stan F. , Martin Martin G. , Palmer Christina GS. , Parker Neil H. , Butte Manish J. , Yoon Amanda J. , Loo Sandra K. , Fogel Brent L. , Dipple Katrina M. , Sinsheimer Janet S. , Allard Patrick , Barseghyan Hayk , Dorrani Naghmeh , Lee Hane , Vilain Eric , Eskin Ascia , Renteria Genecee , Signer Rebecca , Wan Jijun , Zheng Allison , Westerfield Monte , Phillips John A. , Cogan Joy D. , Newman John H. , Robertson Amy K. , Hamid Rizwan , Bican Anna , Brokamp Elly , Duncan Laura , Kozuira Mary , Rives Lynette , Shakachite Lisa , Waters Katrina M. , Webb-Robertson Bobbie-Jo M. , Koeller David M. , Metz Thomas O. 
Published: April 2021

AbstractEvery 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.