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This year's BWH Biomedical Research Institute BRIght Futures Prize finalists are addressing cutting-edge themes in their research. Each of the three finalists hopes to receive the first-ever $100,000 BRIght Futures Prize, which will be awarded on BWH Research Day. Read about their work below, and beginning Sept. 17, vote for your choice here.
Philip De Jager, MD, PhD, BWH Department of Neurology, and Elizabeth Karlson, MD, BWH Division of Rheumatology, Immunology and Allergy, Department of Medicine
What is your research project about?
Imagine that your doctor could use your unique genetic profile and medical history to help make treatment decisions when you are sick. We want to use the wealth of information on more than four million patients in the Partners HealthCare electronic health record system to help us predict how people will respond to medicines used to treat diseases with symptom flare-ups, such as multiple sclerosis (MS).
There are around 400,000 people in the United States with MS. Worldwide, the number jumps to more than 2.1 million people. Focusing on this far-reaching disease in our project, we will create a tool that sifts through millions of electronic health records to find disease activity in people who were taking MS medications. Then we will analyze this data to find out why some people with MS respond to certain medications while others do not.
Specifically, we will link MS disease activity documented in the electronic health records with genetic and clinical data from more than 5,000 consented patients with MS. In doing so, we plan to test a model that can predict how a patient with MS responds to treatment.
Ultimately, this project will have two goals.
The first goal is to help MS clinicians choose the best treatment based on a patient's genetic profile. Our second goal is to distribute our computer tool to other researchers at BWH and elsewhere. By sharing our tool with other researchers, we can help them identify genetic profiles that predict treatment response for other diseases such as heart failure, seizures and many other conditions where patients experience symptom flare-ups.
What is the most exciting aspect of your research project?
Partners HealthCare is a pioneer in personalized medicine with its adoption of advanced technologies. The abundance of data in the Partners HealthCare electronic health record system provides us with a unique opportunity to perform large-scale studies on how our genes influence our response to drugs. Knowing more about this may lead to individually tailored therapy.
How will your research benefit people?
Health care is shifting from a one-size-fits-all approach to an individualized model. Our work addresses an important unmet need in personalized medicine-guidance for optimized treatment. We hope to meet this need by using genetic profiles and data from electronic health records to develop an algorithm that can predict how patients will respond to treatment.
The world of medicine has been successful in applying predictive models, such as the Framingham Risk Score for heart disease and the Gail model for breast cancer. We want to be able to extend this success to chronic diseases, such as MS.
Our project may provide clinicians with important new tools for improving the way they select treatments for their patients. It will also make it easier to study genetic factors that influence how patients respond to treatment in cardiovascular, neuropsychiatric and other chronic diseases with symptom flare-ups. Overall, this project is an exciting research venture that may yield innovative tools that will move personalized medicine forward.
Click here to learn more about the other BRIght Futures Prize finalists >>