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

Autor: Matthew Monroe, Chloe Reuter, Richard Lewis, Erika Zink, Kelly Stratton, Patrick Allard, Mahshid Azamian, Tom Metz, Emilie Douine, Jennifer Louise Patrick Murphy, Young-Mo Kim, Katrina Waters, Bobbie-Jo Webb-Robertson, Nicholas Stong
Rok vydání: 2021
Předmět:
Male
Data Descriptor
Datasets as Topic
Diseases
Disease
Mass Spectrometry
0302 clinical medicine
Research community
Medicine
Reference population
Child
0303 health sciences
education.field_of_study
Middle Aged
Computer Science Applications
Child
Preschool

Female
Statistics
Probability and Uncertainty

Information Systems
Statistics and Probability
Adult
medicine.medical_specialty
Adolescent
Science
Population
Library and Information Sciences
Undiagnosed Diseases
Education
03 medical and health sciences
Young Adult
Metabolic Diseases
Clinical Research
Common fund
Lipidomics
Humans
Metabolomics
Intensive care medicine
education
Preschool
Metabolic and endocrine
030304 developmental biology
Mass spectrometry
business.industry
Infant
Newborn

Infant
Diagnostic markers
Undiagnosed Diseases Network
Newborn
Metabolomics data
business
Healthcare providers
030217 neurology & neurosurgery
Zdroj: Scientific data, vol 8, iss 1
Scientific Data
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Popis: 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.
Measurement(s) Metabolomics • Lipidomics Technology Type(s) gas chromatography-mass spectrometry • Ultra High-performance Liquid Chromatography/Tandem Mass Spectrometry Factor Type(s) age group • sex Sample Characteristic - Organism Homo sapiens Sample Characteristic - Environment blood plasma material • urine material • cerebrospinal fluid material Sample Characteristic - Location United States of America Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.13656581
Databáze: OpenAIRE