Pioneering technology platform rapidly uncovers the genetic causes of unsolved diseases and redefines the understanding of rare and complex genetic diseases.
Melville, NY, (February 28, 2017) Population Bio (PB) – a global leader in gene discovery announced, in support of World Rare Disease Day, its continued investment in its CNV Beacon® gene discovery platform which delivers new knowledge about rare diseases.
The CNV Beacon® platform can discern subtypes of common diseases such as Parkinson’s and Alzheimer’s and show that they are actually an amalgam of rare diseases masquerading as one disease. Such newly defined genetic rare subtypes in common diseases may be informative to a rare disease when the causal genes are the same.
As presented at the American Society of Human Genetics (ASHG) last October, “NUBPL Mutations Link Parkinson’s Disease and Other Movement Disorders to Recessive Complex I Deficiency”, the research describes PB’s discovery that some Parkinson’s disease patients carry mutations in the NUBPL gene, which is known to cause an ultra-rare mitochondrial disorder in children called Complex I Deficiency (CID).
"Our linking of NUBPL mutations in Parkinson’s Disease (PD) to CID in children is analogous to the connection found many years ago between Gaucher disease and Parkinson’s,” said Dr. Eli Hatchwell, Chief Scientific Officer, Population Bio. "The Gaucher/PD connection has resulted in an active area of pharmaceutical research and our hope is that the NUBPL/PD connection will follow a similar path and lead to a new class of therapeutics.”
Population Bio’s patented approach to gene discovery in populations has also been adapted to find causative variants in individuals with developmental delay and intellectual disabilities. PB’s clinical studies in conjunction with a leading US genetics center have demonstrated that the CNV Beacon® technology is able to identify rare variants that are not detected using standard test methods such as chromosomal microarrays and exome sequencing.
"With almost 5 percent of the world’s population – an estimated 350 million people – living with a rare condition, we understand the challenging diagnostic odyssey experienced by people with rare diseases," said Jim Chinitz, CEO Population Bio. “World Rare Disease Day raises awareness and solidarity, and our company is thrilled to be a year-round stakeholder by defining new rare diseases, improving diagnostics, generating new biological knowledge and inspiring novel targeted drug strategies.”
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About Population Bio
Population Bio, Inc. (PB) is a privately held global gene discovery company leading the field of precision medicine. Built on extensive intellectual property, PB is empowering pharmaceutical companies to develop targeted therapies and companion diagnostics faster and more cost effectively. Addressing critical health concerns, PB’s patented technology is currently in clinical studies, collaborations and partnerships addressing complex neurological diseases, such as Autism, Parkinson’s and Alzheimer’s, in addition to other common conditions having a genetic component such as endometriosis and peanut allergy. For more information go to: www.populationbio.com
Media contact: Regina M Reynolds, VERISCOMM, LLC