Institute of Metabolic Disease

The Institute of Metabolic Disease (IMD), part of Baylor Scott & White Research Institute, develops analytical tests for clinical diagnosis, performs clinical testing and research testing and explores therapeutic approaches that encompass the complementary fields of metabolomics and metabolic disease.

Metabolomics is the quantitative measurement of small-molecule metabolites (metabolic Intermediates, hormones and other signaling molecules, and secondary metabolites) found in a biological sample. Metabolomes are considered to be down stream of both gene and protein expression and reflect both transcriptional and translational processes. Metabolic profiling provides insight into intra- and extra-cellular regulatory processes involved in metabolic adaption for each individual phenotype.

Our Approach

Within our center, we apply liquid chromatography and gas chromatography mass spectrometry techniques to perform targeted and general metabolomic studies.

Targeted metabolomics

Targeted metabolomics enables the systematic quantitation of a wide range of metabolites in cells, tissues or clinically relevant fluids. This analytical approach has the advantage of being highly specific and sensitive, providing high quality data on the molar concentrations of multiple metabolites involved in a pathway. Targeted metabolomic analysis generally requires a hypothesis-driven type of experiment, where there is a recognized rationale for the determination of a group of metabolites.

General metabolomics

General metabolomics (also known as untargeted metabolomics) is an analytical approach used to determine potential biomarkers in a disease group in comparison to a non-disease or control group.


Research within this center is directed at understanding the primary mechanisms involved and developing novel therapies for specific genetic diseases with a focus on Fabry disease.

Dr. Schiffmann performs clinical research in Fabry disease; he is the principal investigator in treatment trials of novel therapies for Fabry disease. Treatment trials for novel therapies of neuronopathic Gaucher disease are planned.

He also studies a number of other rare but devastating genetic diseases including mucolipidosis type IV, and investigates disorders of unknown cause using a variety of tools including next-generation sequencing (http://www.neuroundiagnosed.com/Pages/default.aspx). Together with international collaborators, he finds the causal genetic defects in some of these disorders.


Raphael Schiffmann, MD

Principal Investigator

Contact Us

Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease
3812 Elm St.
Dallas, Texas 75226