Although Parkinson’s disease (PD) is the second most common neurodegenerative disease—it affects nearly one million people in the United States—there’s yet to be a way to diagnose it. Boston Medical Center is driven to change that. Thanks to generous support from the John F. Cogan, Jr. Parkinson’s Disease Research Grant, BMC is setting out to identify a diagnostic molecular biomarker. The interdisciplinary team of neurologists and bioinformaticians at BMC and Boston University School of Medicine believes their innovative approach will one day bring hope and help to the 60,000 people who are diagnosed with PD each year.
For BMC neurologist Stephanie Bissonnette, DO, MPH, and so many others in the field, patients who come to her office under the suspicion of having PD may have already been experiencing symptoms for years. “Parkinson’s is probably a balance between your genetic code and environmental exposure. It can present in different ways in different people,” she explains, noting vague symptoms—like tremor or slowness of movements—can progress slowly and sometimes lead patients in several directions throughout the health care orbit. “We get referrals from all over, including physical therapists, surgeons and primary care doctors.”
Even when patients do reach the right place, making a diagnosis can be a challenge and highly subjective.
“There is no ‘gold standard’ test to tell me a patient definitely has Parkinson’s,” Bissonnette says. “There are so many things that can look like PD, such as exposure to chemicals or stroke. It’s hard at the beginning to help prepare a patient for what’s to come and what we should be doing [without having the exact diagnosis in hand]. All we have right now is a clinical exam and ruling out other diseases and conditions.”
Not only would a molecular biomarker help with diagnosis, but it also could prove beneficial in several other capacities, from being able to diagnose and start treatment much earlier to monitoring disease progression. The latter could help advance treatments since doctors would have an objective lens into how someone is or is not responding to therapies. “Having a grant of this caliber really helps us to say to our patient population this is important to us and that we are really seeking to help them with their disease course,” Bissonnette says. “This is something that we think will actually change the way we deliver care at BMC, which is huge.”
Boston Medical Center already has a robust body of PD research, much of which has been made possible by the longstanding support of the Cogan Family Foundation. The foundation was established by Jack Cogan, who formerly served as chairman of Boston University Hospital and was named a trustee emeritus of BMC. Although Cogan was a lawyer by profession, his family describes him as someone who was deeply interested in medicine—in fact, he was admitted to both medical school and law school. “Jack was not interested in having buildings named after him,” says his wife, Mary Cornille, of Jack’s philanthropic motivations. “He was always interested in having our foundation support medical research projects.”
Managing Trustee Pamela Cogan Riddle, Jack’s daughter, explains the foundation’s dedication to PD research, specifically at BMC, is a combination of her father’s decades-long history of being involved with the hospital and the way the cutting-edge nature of the studies aligns with their mission. “The earlier people can figure out and diagnose [Parkinson’s], it is going to set them on a better course for treatment, action and outcomes. The fact that BMC is doing this type of research is what draws us to it,” she adds. “It’s the right place for it.”
The progress made to date by BMC’s PD research has contributed to building a better understanding of the disease, and support from the foundation has helped lay the groundwork for this next exciting chapter.
“We can find changes in the RNA or the DNA of the brain [to confirm PD] after death but because the brain is in such a protected area of the body, it’s really hard to find something in the blood or the rest of the body that we can easily access to look for these kinds of markers,” Bissonnette notes. “What we’ve been trying to do is see whether or not spinal fluid contains some sort of hint that would separate out people with Parkinson’s compared to healthy controls. The Cogan Family Foundation sponsored our initial pilot studies over the last three years where we were able to collect spinal fluid from patients and healthy people. We were able to find RNA in the spinal fluid that we’ve been analyzing to see if there is any sort of signal there. So far, the results look promising. The new grant allows us to validate those studies by testing hundreds more samples available through collaborations with other labs and foundations.”
Bissonnette is co-leading the effort with neurodegenerative disease researcher and bioinformatician Adam Labadorf, PhD. Labadorf notes the grant supports a full time bioinformatic staff scientist, “which is amazing and critical to bringing the work to fruition.” The team is designing a novel pipeline and analysis plan to better characterize the complexity of PD. In some ways, they’re breaking the mold for previous approaches to PD research.
“What we are doing calls for a paradigm shift because we are looking for something that is a precursor to disease—it may look very different in the developmental course of the disease than what manifests at the end,” explains Labadorf. “Such a complex disease is going to require a rethinking of finding signals using a more complex framework. That is the approach I’m taking with the data we’re generating. I’m expanding out the possibilities of what we define as a profile. A challenge in our current clinical setting is tests that are designed for very specific things—you only measure the things that you look for, which is appropriate, but if you’re not looking for the right thing, or if you don’t know what to look for, then those tests aren’t predictive as they seem to be. We have to rethink the problem.”
Labadorf describes the nature of the research as high risk, high reward—which makes it less of a candidate for traditional funding mechanisms. “The Cogan Family Foundation is critical to this type of investigation, because it facilitates bringing new ideas to the table,” he explains. Labadorf also highlights a larger commitment to increasing representation in research. “This support allows us to increase sample sizes so we have a better notion of the diversity of disease profiles across many different people.”
For the Cogan family, they know all too well how significant it can be to transform the diagnostic and treatment landscape for PD—Jack had suffered from the disease. While they understand firsthand the challenges and stress of reaching a diagnosis and seeing a loved one struggle with PD, they are quick to note Jack’s enduring grit. “Jack was an incredible fighter,” Mary says. “He did everything possible to delay the disease’s advancements.”
It’s that same fighting demeanor that underscores the foundation’s grant—to give everyone with PD a fighting chance.
“This initiative is personal in that Parkinson’s has touched our family but this work is not just for us. This grant is such a great gift to share with everybody,” Pamela concludes. “We want to advance medicine for the good of humanity. My father’s generosity is allowing us to help so many people.”
