SOURCE: Population Diagnostics, Inc.

March 19, 2008 09:50 ET

Population Diagnostics, Inc. Mutation Discovery Technology Is Used to Find Autism Gene

MELVILLE, NY--(Marketwire - March 19, 2008) - Population Diagnostics, Inc. announced today that its mutation discovery technology was used to reveal genetic biomarkers associated with autism, a prevalent developmental disorder affecting 1 child in 150. Dr. Eli Hatchwell, MD PhD, an Associate Professor at the State University of New York at Stony Brook, led the research team. The results of this study were published March 18th in the Online Journal of Medical Genetics, a prominent peer reviewed journal. The study identified mutations in the CNTN4 gene on chromosome 3 as the cause of autism in some children. These findings will contribute to the development of DNA-based diagnostic tests for the early detection of autism, which will enable parents of affected children to pursue earlier intervention treatments. Knowledge of CNTN4 mutations will also pave the way for research into future medicines for this severe disorder.

Population Diagnostics' core technology is an essential tool for the rational interpretation of the human genome, a prerequisite for the analysis of mutations that may be associated with any disease. Population Diagnostics was the first to appreciate that humans are not 99.9% genetically similar, a view that was in sharp contrast to that held by scientists throughout the genetic revolution. Most research tools, methods and databases in genetic research today are based on the 99.9% assumption, and it is only now becoming clear that this is a significant error. Instead, Population Diagnostics is generating the definitions for what "normal" means genetically, and is doing so in large ethnically diverse populations so that the genomes of those people with a disease can be intelligently compared and interpreted. This new technology, called "Normal Human Variation," is a means for the rapid, systematic and cost-effective identification of causative genetic biomarkers, without the need to sequence the whole genomes of large populations.

"The vast majority of mutations found in humans have no effect in people. Years can be spent analyzing benign mutations," stated Dr. Eli Hatchwell. "The technology being developed by Population Diagnostics can quickly make obvious those mutations which have a high likelihood of being pathological."

"The autism discovery reported in this paper has medical relevance and is indicative of the success expected when applying our platform to other diseases," commented James Chinitz, CEO of Population Diagnostics. "In general, mutation discoveries are being reported more frequently, so it has become increasingly important to differentiate them on the basis of their commercial application. Most mutations indicate only a slightly higher statistical risk of a disease and are being marketed by companies as tests aimed at affluent hobbyists. In sharp contrast, Population Diagnostics' technology reveals mutations with very strong associations to a disease so that when used as biomarkers in a medical test, they will indicate certainty to the patient. Our medically relevant mutations, which are proprietary, will be used by physicians and pharmaceutical companies to improve the human condition."

About Population Diagnostics, Inc.

Population Diagnostics, Inc. (PDx, is applying its discoveries in human genetics to the development of DNA-based diagnostics and personalized medicine tests. PDx's technology, which reveals the genetic causes of complex diseases such as autism, diabetes, Parkinson's & Alzheimer's, can be used to predict pre-symptomatically why some individuals will suffer from debilitating diseases while others will live healthy lives. When applied to personalizing medicine, the technology enables pharmaceutical companies to generate clinically useful genetic profiles for prescreening and segregating patients for targeted medicines. Its novel technology and exclusive products will place PDx in a prime position to (i) transform how physicians diagnose and manage disease in their patients and (ii) enable pharmaceutical companies to market drugs with higher efficacy and safety.

Contact Information