PHILADELPHIA—Precision medicine allows physicians to provide the most tailored diagnostic tools and treatments for patients. By knowing the nature of a disease with molecular-level accuracy, doctors can treat that root cause. Penn Medicine uses precision medicine to treat a wide variety of disorders, ranging from preterm birth to cancer to cardiovascular disease. With the newly-launched Molecular Integration in Neurological Diagnosis (MIND) Initiative, Penn is bringing the power of precision medicine to Parkinson’s disease research.
Movement disorders is a large umbrella term for Parkinson’s disease, tremor, Huntington’s disease, and other neurological conditions that affect the speed, quality, and ease of movement. But there is a wide range of characteristics within each of these groups. For example, within Parkinson’s disease, some patients barely progress over a two-year span, where others will have symptoms of Parkinson’s that progress more quickly. The MIND Initiative will bring precision medicine techniques to Parkinson’s research to uncover why this happens, in hopes of uncovering better treatment options for patients.
The initiative is a way to bridge the gap between patient care and cutting-edge research that is happening in the laboratory. The goal is to enroll all patients in the Parkinson’s Disease Center at Penn in order to identify biomarkers and better categorize the diverse disease, aiming to convene about 2,500 people by 2020. This would be the largest Parkinson’s disease research cohort in the world with direct patient contact.
The MIND Initiative, led by Alice Chen-Plotkin, MD, the Parker Family Associate Professor of Neurology, will collect medical information such as family history and personal symptoms of Parkinson’s as well as a blood sample from participants. The purpose is to find out how each subject’s genetic make-up can be analyzed to improve a clinician’s ability to diagnose Parkinson’s and select the right type of therapy for each individual.
“We have long recognized that no two people with Parkinson’s are alike. Patients have big differences in their symptoms, responses to medications, and to the side effects of treatment,” said Chen-Plotkin. “This new initiative aims to define groups of patients based on how one’s genes or other biomarkers contribute to these differences and to improve the diagnosis of Parkinson’s disease and develop better treatments in the future.”
In the short term, this allows the center to identify large numbers of individuals with genetic mutations that may make them eligible for experimental therapies. This type of knowledge is valuable for patients and for researchers—patients may know that they qualify for a clinical trial, and researchers may be able to investigate a subset of Parkinson’s that will respond better to particular treatments. For example, mutations in the GBA gene occur in five to 10 percent of Parkinson’s patients, and treatments targeting this genetic subgroup are already in clinical trials, yet most neurological clinics lack comprehensive ability to find mutation carriers.
The center will not only drive precision medicine research for Parkinson’s disease, but it will keep interested patients updated on Parkinson’s breakthroughs and research—such as specific mutations one might carry—and offer ways to give information back to patients in the context of genetic counseling.
“Right now, patients involved in research give their time, DNA samples, and more, but they usually get very little back beyond the hope that their contributions help find better treatments for people with their condition,” said Tom Tropea, DO, instructor of Neurology and member of the MIND Initiative team. “We’re passionate about this center and our patients, and want to offer them the opportunity to stay engaged with our findings and opportunities for clinical trials. This type of knowledge is valuable for patients and it’s another way to thank them for their time.”
Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation’s first medical school) and the University of Pennsylvania Health System, which together form a $8.9 billion enterprise.
The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $496 million awarded in the 2020 fiscal year.
The University of Pennsylvania Health System’s patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center—which are recognized as one of the nation’s top “Honor Roll” hospitals by U.S. News & World Report—Chester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
Penn Medicine is powered by a talented and dedicated workforce of more than 44,000 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.
Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2020, Penn Medicine provided more than $563 million to benefit our community.