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

Collaboration Announced Between Researchers at University of California Irvine and Population Diagnostics, Inc. at Rare Disease Event in Southern California

IRVINE, CA--(Marketwired - Feb 29, 2016) - 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 visit

Currently celebrating its 50th anniversary, UCI is the youngest member of the prestigious Association of American Universities. The campus has produced three Nobel laureates and is known for its academic achievement, premier research, innovation and anteater mascot. Led by Chancellor Howard Gillman, UCI has more than 30,000 students and offers 192 degree programs. It's located in one of the world's safest and most economically vibrant communities and is Orange County's second-largest employer, contributing $4.8 billion annually to the local economy. For more on UCI, visit

Population Diagnostics, Inc. (PDx) is a privately held gene discovery company pioneering the discovery of the genetic causes of disease and predictive drug response. PDx applies its proprietary core competency in gene discovery to unravel the complexity of the human genome for the purpose of revealing novel biomarkers that define disease sub-types that are currently elusive within the ethnically diverse patient populations across the globe. Built on extensive intellectual property, the PDx patented platform is empowering pharmaceutical companies (Rx) to develop targeted therapies and companion diagnostics (CDx) faster and more cost effectively by delivering best-in-class medically actionable data for precision medicine.

Addressing critical health concerns, PDx's platform is currently in clinical studies and strategic discovery alliances to solve complex diseases such as Autism, Peanut Allergy, Endometriosis, neurological diseases such as Parkinson's, and Alzheimer's, and rare diseases such as PML (Progressive Multifocal Leukoencephalopathy). PDx is also engaged in finding protective (healthy) genetic variations such as those that extend human longevity. For more information about PDx visit

The Spooner Girls Foundation funds research toward treatments and a cure for Mitochondrial Complex I Deficiency. Rick and Cristy Spooner spent 14 years searching for a diagnosis for their daughters Calyn and Ryann's unexplained physical challenges until UC Irvine researcher Dr. Virginia Kimonis diagnosed their rare genetic condition. Fewer than 20 individuals have been diagnosed with this deficiency which causes cognitive delays and challenges with motor control. The documentary, "The Life We Live" tells the inspiring story of the Spooner family and their journey of hope, perseverance & scientific discovery. For more information visit

Contact Information:

Regina Reynolds
Population Diagnostics
(323) 929-9938

Kim Sherman
Echo Media Group
(714) 573-0899 ext. 222