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Professor Atul Butte presents at Biomedical Forum

Using bioinformatics to make health discoveries

16 July 2009

Over the past few decades, rapid developments in genetics, genomics and molecular biological research have combined to produce a tremendous amount of data related to disease pathophysiology. At the Biomedical Research Centre’s (BRC) July Biomedical Forum, Professor Atul Butte from Stanford University gave an enlightening presentation about the impact that analytical, storage and interpretive methods are having on our understanding and the classification of complex diseases.

International data repositories, such as the Gene Expression Omnibus and the Database of Genotypes and Phenotypes are giving researchers unprecedented access to information on gene activity. Similarly, it is getting easier to purchase online gene chips that measure which genes are active or expressed in a cell. These chips can be used to test candidate biomarkers for disease detection.

Professor Atul Butte said: “Recently we had a candidate biomarker for acute myeloid leukaemia and we needed to test it, but we needed serum from the cells of patients with this disease. Rather than painstakingly collecting the serum ourselves, we were able to purchase the serum from existing stores elsewhere, with very little effort. Improved accessibility to the material we need to conduct studies should benefit patients, as any discoveries should be accelerated.”

Genome wide association (GWA) studies that involve rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease, are leading to the discovery of new genes associated with diseases. Professor Butte argued that researchers should establish which genes are showing up most often across many kinds of molecular studies into a disease to be most confident of their results.

He explained: “The number of patients recruited into GWA studies and the criteria researchers use to select patients and controls for a specific disease can vary, and this can lead to inconsistent results. For example, whether or not we include obese patients in a control group for a GWA study into type 2 diabetes could potentially have a significant impact on the genetic differences identified. A good approach is to use analytical tools to identify the genes that show up most frequently across all molecular studies into type 2 diabetes and other complex disorders and test those further. By integrating studies, the findings gain power, and results are more likely to be true positive findings.”

Professor Butte is confident that recently published work on obesity and soon to be published work on type 2 diabetes has led to the identification and validation of new genes associated with these complex disorders. He continued: “Genes we find in common across publicly available studies are potential therapeutic targets for future studies.”

In the second half of his presentation, Professor Butte discussed how he uses publicly available data from gene chips to map diseases in a new and exciting way - based on similarities in their patterns of gene activity.

He said: “Potentially this leads to a completely different way of classifying diseases, and therefore also opens up new approaches to finding new treatments. Diseases and conditions that look extremely different at a symptom level, may actually be quite similar at a molecular level and may potentially respond to similar treatments. For example, molecular level studies have revealed that there are genetic similarities between muscular dystrophy and heart attack patients. So, the next step could be to test some of the 40 drugs used for heart attacks in mouse models for muscular dystrophy.”

Professor Richard Trembath, who chaired the July Biomedical Forum, said: “Professor Atul Butte’s Biomedical Forum was outstanding. I am sure he has inspired many to ask new questions of publicly available data, to think about disease classification in a slightly different way and to take forward our own strategies to integrate clinical information in our electronic patient record systems with the high-throughput translational research data being generated within the BRC and its partners.”

To find out more about the Biomedical Research Centre, visit: www.biomedicalresearchcentre.org

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