Company claims that its approach will identify rare variants in multiple genes rather than common but risk-related SNPs.
Population Diagnostics (PDx) has been awarded an undisclosed grant by the National Institute of Neurological Disorders and Stroke to support research into the genetic causes of Parkinson disease. The project will exploit the firm’s gene discovery platform to identify rare variants within multiple genes.
“Historically, Parkinson’s patients have been lumped together as a diagnosis based on clinical observations, but there may actually be dozens of subtypes of Parkinson’s that can be delineated as genetic subgroups,” remarks Jim Chinitz, PDx’ CEO. “This grant will allow us to systematically reveal the genes that harbor disease-causing mutations for Parkinson’s disease.”
PDx’ focus on the hunt for rare genetic variants is in direct contrast to more frequently applied approaches that center on identifying common genetic variants, the firm explains. The “common disease/common variant” hypothesis underlying the search for common variants basically assumes that such a set of mutations would cause Parkinson disease and also explain why there is so much variation between the onset and severity of the disease among different patients.
However, PDx believes that most common SNPs identified as a result of this hypothesis actually have negligible clinical value as diagnostic biomarkers as they can generally only be linked to increases in risk of developing a disease. In contrast, the firm claims that many complex but common disorders such as Parkinson disease will ultimately be classified by a collection of rare variants within multiple genes, each of which will be capable of independently causing the common set of symptoms that define the diagnosis of Parkinson disease.
“Our approach to revealing causative, rare variants will result in the identification of multiple genes that affect different biological pathways,” adds Eli Hatchwell, M.D., Ph.D., co-founder of PDx and associate professor at Stony Brook University Medical Center. “It isn’t surprising that traditional therapeutics research has been disappointing, given that a particular drug molecule design is unlikely to be effective in more than one relevant pathway at a time. In the future when a comprehensive set of causative rare variants collectively explain a far greater percentage of Parkinson’s patients, rational therapeutic development strategies targeted toward the correct pathways can be effectively applied.”
PDx’ technology has been designed to interpret human genomes by considering the vast spectrum of normal variation within an ethnically diverse population to separate the small fraction of variants unique to a disease or drug profile. The company is applying its platform to uncover the genetic causes of diseases like autism, diabetes, and Alzheimer and to speed the development of accurate early-detection diagnostics. The technology is also being applied to aid the biotech and pharma industries in developing targeted therapeutics and companion diagnostics.