Collaboration
Announced Between Researchers at University of California Irvine and Population
Diagnostics, Inc. at Rare Disease Event in Southern California
02/29/16
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.
FIRST
IMAGE PLACEHOLDER
"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 www.rarediseaseday.org.
ABOUT
THE UNIVERSITY OF CALIFORNIA, IRVINE
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 www.uci.edu.
ABOUT
POPULATION DIAGNOSTICS,INC.
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 www.populationdiagnostics.com.
ABOUT
THE SPOONER GIRLS FOUNDATION
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 www.spoonergirls.com.
Contact:
Regina Reynolds
Population
Diagnostics
Veriscomm
(323)
929-9938
Kim
Sherman
Echo
Media Group
(714)
573-0899 ext. 222
http://health.einnews.com/pr_news/314138235/genetic-link-to-parkinson-s-disease-is-best-hope-for-the-future-in-rare-disease
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