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Genetic Link to Parkinson's Disease Is Best Hope for the Future in Rare Disease

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The Spooner Girls Foundation, University of California, Irvine School of Medicine, (UCI) and Population Diagnostics, Inc. (PDx) announced today a collaborative research initiative focused on the NUBPL gene at the Spooner family's annual fundraising event in Irvine. Thanks to breakthroughs in genetic testing, the Spooners learned that their two daughters have a mitochondrial disorder called Complex I Deficiency, an extremely rare disease caused by mutations in the NUBPL gene. The family's decision to go public with their efforts to help their daughters and other patients diagnosed with this rare disease has led to a groundbreaking collaboration between researchers at UCI and PDx.

PDx's proprietary gene discovery platform has revealed an NUBPL mutation that is believed to be linked to Parkinson's disease. Current data indicates that two NUBPL mutations need to be present in order to cause Complex I Deficiency, while the presence of only one NUBPL mutation may increase the risk for development of Parkinson's disease.

"Our discovery of NUBPL mutations in a subset of Parkinson's disease patients is a great example of how a rare disease -- Complex I Deficiency -- intersects with a common disease," said Peggy Eis, PhD, co-founder, chief technology officer, PDx. "This gene-based link provides an opportunity to accelerate research required for precision medicine. In our current worldwide initiative, we are collecting data on a larger number of Parkinson's patients to determine how many have mutations in the NUBPL gene similar to those that affect the Spooners."

"We are seeking funding to determine how the mutated NUBPL gene results in mitochondrial defects and to find novel treatments that correct the defects," said Virginia Kimonis, MD, MRCP, a UC Irvine School of Medicine professor who specializes in genetics and metabolism. "The new discovery that NUBPL mutations may be associated with Parkinson's paves the way for new avenues of research and treatments."

The research findings, and their implication for discovering new treatments for Parkinson's, were shared by Dr. Eis and Dr. Kimonis at the Spooner Girls Foundation event, "Especially Beautiful: A Rare Fashion Event," in conjunction with World Rare Disease Day. The fundraising event hosted at Axis Research & Technologies also featured a fashion show with special needs children and teens afflicted with rare diseases serving as models. For more information about World Rare Disease Day CLICK HERE.

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