11 months ago

2018 Spring/Summer Highlights of Hope

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  • Hope
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RESEARCH A RARE COMBINATION Science and philanthropy team up to help patients with little-known diseases A bench-to-bedside effort to better understand and treat rare diseases aims to provide answers where there are now only questions. “Rare diseases are often understudied, which is a real problem when it comes to helping patients,” said Dr. Matt Steensma, a scientist at Van Andel Institute, a surgeon at Spectrum Health and an assistant professor at Michigan State University. “It’s very difficult to tell someone, ‘we know what you have, but we don’t know what to do about it.’” More than 7,000 such disorders have been identified to date; some, like Aicardi syndrome, affect only a handful of people, while others, such as neurofibromatosis type 1, affect thousands but still fall below the 200,000-person cap that marks a condition as rare. An estimated 25 million people in the U.S. have a rare disease, a large proportion of whom are children. “These patients deserve the best we can give,” Steensma said. “They deserve answers and effective treatments—that’s what we hope to accomplish.” Going after the outliers About eight years ago, Steensma teamed up with Dr. Bart Williams, a bone disease expert and now director of the Institute’s Center for Cancer and Cell Biology, to create the Outliers Program, a unique research endeavor designed to identify the causes of rare diseases and to find ways to treat them. Their efforts are bolstered by the expertise of the Institute’s Bioinformatics and Biostatistics Core and collaborators at Michigan State University College of Human Medicine. First up on their docket? Oculoectodermal syndrome (OES), an exceedingly uncommon disease first identified in two unrelated patients in Grand Rapids in 1993. When the Outliers Program began in 2009, only 18 “These patients deserve the best we can give. They deserve answers and effective treatments— that's what we hope to accomplish.” - Dr. Matt Steensma patients had ever been diagnosed with the disorder, which causes severe lesions on the scalp and debilitating bone growths on the jaw. Using samples from one of Steensma’s patients, the team identified the cause of the disease—a mutation to KRAS, one of the most heavily studied cancer genes. This discovery placed OES, unquestionably a rare disease, in “the middle of the incredible science and innovation surrounding KRAS," Steensma said. “More importantly, our care of the patient was changed for the better. Now we know that there is an increased risk of cancer, and we can monitor for it appropriately,” Steensma said. “This project was a wonderful collaboration between the strong clinical expertise at Spectrum Health Helen DeVos Children’s Hospital and the scientific expertise at Van Andel Research Institute. There aren’t a lot of places in the country where you can do this type of work—West Michigan is unique in that aspect.” The ripple effect Progress in rare disease research can often be hindered due to a lack of funding, with dollars frequently going to more common diseases such as cancer. Although this is beginning to change, philanthropic support remains critical for propelling this promising work forward. The Outliers Program itself is a prime example. It is completely funded by donations, including a grant from Wells Fargo that helped establish the program, and continuing support from Steensma and Williams’s own colleagues through VAI’s Employee Impact Fund (EIF), which is sustained by the Institute’s employees. “The support our colleagues provide through the Employee Impact Fund makes a world of difference,” Steensma said. “With the OES project, for example, it allowed us to verify our initial results and create a model for the disease that is also now being used in a broader setting to study KRAS in colon and pancreatic cancers.” In May, Steensma’s team was awarded a second round of EIF funding, this time to support research into Aicardi syndrome, a disorder that almost exclusively affects females and that is characterized by developmental problems in the brain and eyes that may lead to seizures, learning disabilities and blindness. There have been fewer than 60 documented cases of the disease in the world. Finding the underlying mutations that cause a rare disease like OES or Aicardi often has broad implications; because the systems that keep our bodies healthy and functioning are so intricately intertwined, a discovery in one disease can directly impact what we know about another. “We call it the ‘ripple effect’—often, the science behind why a rare disease occurs is really the same science as why a cancer occurs,” Steensma said. “By studying rare diseases, we may not only come up with a way to help people battling these conditions but also develop treatments for more common disorders like cancer or hypertension. It really opens the window to studying the underlying biology in a different context.” 2 | VAN ANDEL INSTITUTE HIGHLIGHTS OF HOPE

DR. MATT STEENSMA "...the systems that keep our bodies healthy and functioning are so intricately intertwined, a discovery in one disease can directly impact what we know about another." - Dr. Matt Steensma A TEAM EFFORT Since 2014, the Institute’s Employee Impact Fund has supported many research, education and community outreach initiatives, including: • Establishing Rallying to the Challenge, a meeting designed by and for Parkinson’s advocates to amplify the patient voice and perspective • Exploring epigenetics in a common lung cancer • Supporting Partners in Science, Van Andel Education Institute’s handson scientific research program for high school students • Testing potential new medications for osteoarthritis prevention and treatment • Studying a method for possible breast cancer prevention VAN ANDEL INSTITUTE HIGHLIGHTS OF HOPE | 3

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