Skip to main content


Metabolomics of disease

Guest editor: Dr Timothy Veenstra

Rapid advances have been made in the prediction, detection, understanding and monitoring of human disease using metabolomic technologies. Genome Medicine presents a special issue devoted to metabolomics of disease, with specially commissioned comment and review articles, plus original research, to provide a state-of-the-art overview of this fast moving area and its clinical applications.

Learn more about the applications of metabolomics with our interactive graphic.

This collection of articles has not been sponsored and articles have undergone the journal’s standard peer-review process. The guest editor declares no competing interests.

  1. Research

    Serum metabolomic profile as a means to distinguish stage of colorectal cancer

    Presently, colorectal cancer (CRC) is staged preoperatively by radiographic tests, and postoperatively by pathological evaluation of available surgical specimens. However, present staging methods do not accura...

    Farshad Farshidfar, Aalim M Weljie, Karen Kopciuk, W Don Buie, Anthony MacLean, Elijah Dixon, Francis R Sutherland, Andrea Molckovsky, Hans J Vogel and Oliver F Bathe

    Genome Medicine 2012 4:42

    Published on: 14 May 2012

  2. Research

    Multi-platform characterization of the human cerebrospinal fluid metabolome: a comprehensive and quantitative update

    Human cerebral spinal fluid (CSF) is known to be a rich source of small molecule biomarkers for neurological and neurodegenerative diseases. In 2007, we conducted a comprehensive metabolomic study and performe...

    Rupasri Mandal, An Chi Guo, Kruti K Chaudhary, Philip Liu, Faizath S Yallou, Edison Dong, Farid Aziat and David S Wishart

    Genome Medicine 2012 4:38

    Published on: 30 April 2012

  3. Review

    Metabolomics of human breast cancer: new approaches for tumor typing and biomarker discovery

    Breast cancer is the most common cancer in women worldwide, and the development of new technologies for better understanding of the molecular changes involved in breast cancer progression is essential. Metabol...

    Carsten Denkert, Elmar Bucher, Mika Hilvo, Reza Salek, Matej Orešič, Julian Griffin, Scarlet Brockmöller, Frederick Klauschen, Sibylle Loibl, Dinesh Kumar Barupal, Jan Budczies, Kristiina Iljin, Valentina Nekljudova and Oliver Fiehn

    Genome Medicine 2012 4:37

    Published on: 30 April 2012

  4. Research

    Metabolomic analysis of rat serum in streptozotocin-induced diabetes and after treatment with oral triethylenetetramine (TETA)

    The prevalence, and associated healthcare burden, of diabetes mellitus is increasing worldwide. Mortality and morbidity are associated with diabetic complications in multiple organs and tissues, including the ...

    Marta Ugarte, Marie Brown, Katherine A Hollywood, Garth J Cooper, Paul N Bishop and Warwick B Dunn

    Genome Medicine 2012 4:35

    Published on: 30 April 2012

  5. Research

    Cancer detection and biopsy classification using concurrent histopathological and metabolomic analysis of core biopsies

    Metabolomics, the non-targeted interrogation of small molecules in a biological sample, is an ideal technology for identifying diagnostic biomarkers. Current tissue extraction protocols involve sample destruct...

    Meredith V Brown, Jonathan E McDunn, Philip R Gunst, Elizabeth M Smith, Michael V Milburn, Dean A Troyer and Kay A Lawton

    Genome Medicine 2012 4:33

    Published on: 30 April 2012

  6. Review

    Genome-wide association studies with metabolomics

    Genome-wide association studies (GWAS) analyze the genetic component of a phenotype or the etiology of a disease. Despite the success of many GWAS, little progress has been made in uncovering the underlying me...

    Jerzy Adamski

    Genome Medicine 2012 4:34

    Published on: 30 April 2012

  7. Research

    Differential effects of dietary supplements on metabolomic profile of smokers versus non-smokers

    Cigarette smoking is well-known to associate with accelerated skin aging as well as cardiovascular disease and lung cancer, in large part due to oxidative stress. Because metabolites are downstream of genetic ...

    Robert C Spitale, Michelle Y Cheng, Kimberly A Chun, Emily S Gorell, Claudia A Munoz, Dale G Kern, Steve M Wood, Helen E Knaggs, Jacob Wulff, Kirk D Beebe and Anne Lynn S Chang

    Genome Medicine 2012 4:14

    Published on: 23 February 2012

  8. Research

    Phospholipids and insulin resistance in psychosis: a lipidomics study of twin pairs discordant for schizophrenia

    Several theories have been proposed to conceptualize the pathological processes inherent to schizophrenia. The 'prostaglandin deficiency' hypothesis postulates that defective enzyme systems converting essentia...

    Matej Orešič, Tuulikki Seppänen-Laakso, Daqiang Sun, Jing Tang, Sebastian Therman, Rachael Viehman, Ulla Mustonen, Theo G van Erp, Tuulia Hyötyläinen, Paul Thompson, Arthur W Toga, Matti O Huttunen, Jaana Suvisaari, Jaakko Kaprio, Jouko Lönnqvist and Tyrone D Cannon

    Genome Medicine 2012 4:1

    Published on: 18 January 2012