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Biochem Mol biol J

ISSN: 2471-8084

Volume 3, Issue 2

Metabolomics Conference 2017

August 29-30, 2017 Prague, Czech Republic



International Conference and Exhibition on

Metabolomics and Systems Biology


Page 19

Metabolomics on mouse models of disease

for personalized medicine

Preeti Bais

The Jackson Laboratory for Genomic Medicine, USA


etabolomics is a newer omics technology that can

help in generating a more comprehensive view of

a biological system when combined with the genomic,

transcriptomic and proteomic technologies. In this

seminar, I will discuss the bioinformatics infrastructure

that we have developed at Jackson Laboratory to perform

mass spectrometry based metabolomics experiments on

mouse based studies. I will highlight some case studies

where I have used metabolomics in mouse models of

neuromuscular degeneration and patient derived xenograft

(PDX) for cancer studies and personalized medicine.

Charcot-Marie-Tooth (CMT) disease encompasses a

genetically heterogeneous class of heritable motor and

sensory neuropathies that result in axonal degeneration in

the peripheral nervous system. Charcot-Marie-Tooth type

2D (CMT2D) is caused by dominant mutations in Glycyl

tRNA Synthetase (GARS). Samples from the spinal cord

of GARS mutant mice and littermate control animals were

compared using mass spectrometry based metabolomics.

The changes associated with GARS mutations suggested

possible treatment strategies through supplementation.

In another case study, Gas Chromatography Mass

Spectrometry (GCMS) based analysis was used to

derive a metabolic signature of triple negative breast

cancer (TNBC) by comparing the metabolites present

in three study arms of patient-derived xenograft (PDX)

mouse urine. This analysis not only suggested metabolic

uniformity of the JAX mice but also showed cancer

specific changes in the vehicle (tumor with no treatment)

arm, known drug side effects in the treatment arm (tumor

engrafted and treated) and the age related changes in the

pure (no tumor no treatment) arm.


Preeti Bais is a Scientist at Jackson Lab’s new research institute- JAX

Genomics Medicine (JGM). It is an independent, nonprofit organization

focusing on mammalian genetics research to advance human health. She

holds a PhD degree in Bioinformatics and Computational Biology. She has

worked on projects involving metabolomics analysis of Human Embryonic

Stem (hES) and Induced Pluripotent Stem (IPS) cells based assays for drug

toxicity screening, autism biomarker detection using blood samples, mouse

models of neuromuscular degeneration and cancer drug efficacy testing using

orthotropic mouse models triple negative breast cancer.

[email protected]

Preeti Bais, Biochem Mol biol J, 3:2

DOI: 10.21767/2471-8084-C1-002