The Mayo Clinic and Illinois Alliance has awarded seed funding to four collaborative Mayo Clinic and Illinois research teams. Proposals were submitted in response to a call that was issued in conjunction with the Pharmacogenomics Workshop held in January 2013, and these proposals were selected from a pool of highly competitive applicants.
Research Teams and Project Descriptions Include:
Genetic Patient Polymorphisms and Molecular Mechanisms of Vitamin D Metabolism
Research team: Stephen G. Sligar, Ph.D. (Illinois), Mary A. Schuler, Ph.D. (Illinois), and Rajiv Kumar, M.D. (Mayo)
Through this partnership between clinical and basic research, the team plans to seek the linkage between patient
polymorphisms and their origins related to the structure and function of metabolic gene products. Researchers will
focus on characterizing defects in two cytochrome P450 mono-oxygenases responsible for the synthesis (CYP27B1)
and catabolism (CYP24A1) of vitamin D metabolites. They will map patient-specific amino acid variants on predicted
protein structures and verify these in purified enzyme systems allowing the determination of the most deleterious
effects that will be used in genetic screening of patient populations and to begin predicting inhibitors for hyperactive
variants of these critical enzymes.
Using the Widely Available Glucometer for Point-of-Care Monitoring of Lactic Acid
Research team: Yi Lu, Ph.D. (Illinois) and Ananda Basu, M.D. (Mayo)
The team plans to develop and validate a method of using the widely available glucometer for point-of-care (POC)
testing for lactic acid in humans. The method, once developed and validated, could be applied to monitor patients
with diabetes to prevent lactic acidosis. To translate this method into clinical practice, the researchers will work to: a)
demonstrate solution assays for lactic acid/lactate; b) develop simple lateral flow device to interface with glucometers
to enable patient self-diagnosis; and c) test the methods using clinical samples to validate clinical utility. By
repurposing the widely available glucometers for detecting many non-glucose targets and placing such tests in the
hands of millions of patients with diabetes, this project advances the possibilities of individualized diagnostics and
medicine.
A Strategy for Rapid Analysis of Bcl2 Mutants Associated with Follicular Lymphoma
Research team: David Kranz, Ph.D. (Illinois) and Scott Kaufmann, M.D. (Mayo)
This team is focused on an important aspect of follicular lymphoma (FL), a cancer that has an incidence of 14,000
new cases in the US per year. Mutations in the BCL2 gene correlated with reduced survival of FL patients. Using a
high-throughput approach, researchers will examine the impact of these mutations on the binding of the Bcl-2 protein
to its key ligands.
Using Electronic Health Records to Predict Heart Failure Therapy Response
Research team: Chenxiang Zhai, Ph.D. (Illinois), Jiawei Han, Ph.D. (Illinois), Jyotishman Pathak, Ph.D. (Mayo) and
Naveen Pereira, M.D. (Mayo)
The project will apply advanced data mining and machine learning algorithms to analyze electronic health records to
discover patterns of potentially different individual responses to heart failure therapy, and use the discovered
knowledge to predict optimal treatment and enable personalized medicine of heart failure patients.
