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The Fabric of Disease

Precision Medicine: Computational Health Sciences

By Wallace Ravven    |   UCSF.edu | November 15, 2013

The Fabric of Disease

Neil Risch (left) and Pui-Yan Kwok (right) are tracing the genetic and environmental
roots of a range of diseases by tapping into one of the world’s largest collections of
patient health records.

If biology is destiny, then the slightest change in a gene's DNA can become an agent of destiny. About 99.9 percent of the DNA "letters," or chemical bases, that make up genes are identical in everyone. But the remaining sliver of variability can change a life.  

A tweak in just one base out of thousands may make the difference between a healthy old age and an early decline into Alzheimer's disease.

More often, researchers find that a number of diseases and traits – such as prostate cancer, type 2 diabetes, and high body mass index – arise from combinations of DNA variants scattered within and between our genes. In some cases, hundreds of these individual DNA units apparently work in concert with environmental factors to influence the onset and progression of disease.

Identifying the links between slight genetic aberrations and complex diseases is one of modern biology's great challenges.

A team of scientists from UC San Francisco and Kaiser Permanente Northern California is now four years into an ambitious effort to trace the genetic and environmental roots of a range of disorders, from diabetes to cancer. They are doing so by tapping into one of the world's largest and most thorough collections of patient health records.  

They are drawing on the heath histories of more than 100,000 Kaiser member volunteers, each of whom spits for science – providing a saliva sample for genetic analysis.

Kaiser's electronic medical records track up to 25 years of patients' prescriptions, cholesterol levels, mammograms, MRI scans, and disease diagnoses. UCSF and Kaiser researchers have collaborated to create genetic profiles of the Kaiser volunteers and are working together to analyze this rich source of genetic, environmental, and health data.

The analysis and cross-analysis of this mother lode of Kaiser members' health data and their genetic profiles is expected to speed early prediction of many disorders, aid development of treatments and cures, and personalize medicine by allowing physicians to tailor drugs and other therapies to each patient's unique genetic makeup.

"The sheer size and ethnic diversity of the Kaiser population we are studying greatly increase the likelihood that our research will lead to new understanding of the genetic underpinnings of complex diseases," says Neil Risch, PhD, the Lamond Family Foundation Distinguished Professor in Human Genetics, the director of UCSF's Institute for Human Genetics, and co-leader of the collaborative research.

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