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Population Diagnostics, Inc. Appoints Sir Walter Bodmer

Published: Tuesday, September 27, 2011
Last Updated: Tuesday, September 27, 2011
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Population Diagnostics, Inc. announces the appointment of Sir Walter Bodmer, one of the world’s preeminent human geneticists, to its Scientific Advisory Board.

Sir Walter Bodmer, knighted for his contributions to science, is currently Head of the Cancer and Immunogenetics Laboratory in the Weatherall Institute of Molecular Medicine at the University of Oxford. He is the recipient of more than twenty Honorary Degrees and Fellowships including the Royal Society (FRS), the Royal College of Pathologists (FRCPath) and the Royal College of Surgeons and Physicians. He is the recipient of the William Allan Memorial Award from the American Society of Human Genetics, the Neil Hamilton-Fairly Medal from the Royal College of Physicians, the Michael Faraday Award from the Royal Society and many other awards of distinction. Professor Bodmer completed his PhD at Cambridge University working with Sir R.A. Fisher, who laid the foundations of modern statistical genetics. He is also recognized for major contributions in the improvement of public awareness and understanding of science and technology. Today, Professor Bodmer’s interest resides in the field of human genetic diversity and he has a very strong interest in revealing the missing heritability of common complex diseases, the primary objective of PDx.

In 2008, Professor Bodmer authored a seminal paper (Bodmer W & Bonilla C, 2008 Nat. Genet. 40:695-701) that posited the importance of rare variants in common disease. Additionally, he recognized that the industry-wide adoption of gene discovery methods predicated on finding common variants (the Common Disease - Common Variant hypothesis) was flawed. This paradigm shifting paper was the first formal affirmation of the concepts underlying PDx’s patented rare variant discovery methods developed in 2006 and represented the turning point for the broader adoption of the Common Disease – Rare Variant hypothesis, which PDx is now leading.

“Walter has a keen appreciation for the role of rare variants in common and complex human genetic disorders,” stated PDx’s Chief Scientific Officer Dr. Eli Hatchwell MD PhD, “and he brings a lifetime of experience in population genetics and fundamental mechanisms of human genetic disease to support our quest to uncover the genetic causes of a broad range of human disorders in addition to understanding the genetic basis of serious adverse effects of certain drugs.”

“I am very impressed by how Population Diagnostics’ targeted sequencing method initially looks at the genome through the lens of copy number variants as a means for uncovering the broader mutational spectrum including rare sequence variants which can be pathogenic,” stated Professor Bodmer. “In addition to solving the genetics of common diseases, I am very excited by the prospect of this approach being used to develop companion tests intended to identify patients who will experience a serious adverse effect to a particular drug before it is administered to them.”

Population Diagnostics now holds two US patents (7,702,468, and 7,957,913) that compare copy number variants (CNVs) in subjects with a given condition to the CNVs in a cohort comprised of healthy individuals. By eliminating benign and irrelevant CNVs in such a comparison, one is quickly led to genes that are pathogenic, which can then be interrogated using higher resolution techniques. The claims not only describe this fundamental approach, but also apply it to patient stratification methods, such as genetically differentiating a drug responder from a non-responder (efficacy), or selecting individuals most likely to experience a serious adverse effect to a given drug. Also described is the use of the CNV comparative method applied to clinical trial optimization, drug rescue, drug repositioning, or monitoring the efficacy and safety of drugs already on the market (post-market surveillance).

“We have a tremendous opportunity to automate, systematize and accelerate the field of personalized medicine using our platform technology,” stated Jim Chinitz, CEO of PDx. “Support from preeminent thought leaders, newly issued patents to protect our innovations, an abundance of compelling demonstrations of the core technology, the establishment of our bioinformatics center in the United Kingdom, and our recent venture financing, each represent a milestone and collectively are indicative of the direction in which we are heading.”


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