Discovery of metabolite biomarkers in rare diseases

Study code

Lead researcher
Dr Leonardo Bottolo

Study type
Data only

Institution or company
University of Cambridge

Researcher type

Speciality area
Genomics and Rare Diseases


Metabolites are the end-products of gene expression, which are closely related to protein and enzymatic reactions. With the advent of metabolomics as a powerful tool for both biomarker discovery and understanding functional consequences, the identification of specific differences between complex metabolite profiles is becoming an important step in the data analysis pipeline. So far metabonomic profiles have provided potential biomarkers for screening complex disorders such as cardiovascular diseases, kidney disorders, type 2 diabetes, etc. and they enhance accuracy of diagnosis of hyperlipidemia and atherosclerosis. However little is known about the discriminatory power of metabonomic profiles for differential diagnosis of several rare diseases.

We are investigating if metabonomic profiles can be used as a discovery tool for precision medicine to test whether it can increase the diagnostic yield significantly.

This in turn could lead to better treatment choice for patients, and the selected metabolites can serve as biomarkers to improve diagnosis and therapeutic intervention.

We hope to reveal new metabolic pathways by a fully data-driven network representation, and investigate network differences that allow the identification of “common” and “specific” metabolites footprints across rare diseases.

Organisation: This study is organised by Dr Leonardo Bottolo of the department of Medical Genetics at the University of Cambridge.

Participation: Over 15,000 rare disease patients provided data for this study.