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Personal Genome Diagnostics Inc. Licenses Genome-Mapping Technology from Johns Hopkins University and Expands Its Cancer Genome Analysis Business

BALTIMORE, March 7, 2013 /PRNewswire/ -- Personal Genome Diagnostics Inc. (PGDx), a pioneer in conducting patient-specific analyses aimed at identifying genomic alterations in tumors, today announced a number of developments that will support its expanding business.  The company licensed exclusive rights to Digital Karyotyping (DK), an important genome-mapping technology developed by the company's founders at Johns Hopkins University.  PGDx also announced that it is expanding into new facilities and has made a number of key hires, including Genzyme Oncology executive Antony Newton as Chief Commercial Officer.

PGDx's co-founders include Chief Scientific Officer Dr. Victor Velculescu and Chief Medical Officer Dr. Luis Diaz , international leaders in cancer genetics and faculty members at the Johns Hopkins University School of Medicine, who were the first to perform genome-wide sequence analyses of human cancer.  They and colleagues at Johns Hopkins, including Dr. Bert Vogelstein , a recent recipient of the Breakthrough Prize in Life Sciences for his work in colon cancer, established the company in response to requests from cancer researchers and clinicians for commercial access to their specialized genome-mapping services and analyses.  PGDx has licensed rights from Johns Hopkins to proprietary methods based on next-generation sequencing, patented approaches to genetic analysis and proprietary data algorithms, and its scientists have deep expertise in the practical application of these technologies to the study of cancer genomics. 

"At PGDx, we are fortunate to be able to bring the latest advances in cancer genomics such as Digital Karyotyping to cancer researchers and clinicians around the globe," said Antony Newton . "This is an exciting time for cancer genomics, and we expect to be announcing a number of collaborations and partnerships in the coming months as we bring our advanced capabilities to the many researchers and drug developers who are rapidly advancing the field." 

Newton added, "We also are using our CLIA-certified laboratory and our years of genomic know-how to provide information on tumor-specific mutations to cancer patients and their physicians.  As the utility of cancer genomics evolves, we are considering a number of options for expanding our ability to serve the growing demand for patient-specific analyses that can help inform treatment decisions."

As part of its services, PGDx employs cancer exome analysis, an approach the company pioneered, to capture and selectively analyze the coding regions of the genome, enabling the comprehensive and reliable genome-wide identification of cancer-related mutations in all of the approximately 20,000 relevant genes.  PGDx also provides in-depth computational analyses based on its proprietary methodologies to differentiate between unimportant and cancer-associated mutations.  

The patented DK technology enables quantitative analysis of DNA copy number at high resolution with exceptional sensitivity.  This method can identify large chromosomal changes in human cancer cells, along with amplifications and deletions, including those in regions not previously known to have been altered.  DK has enabled a number of landmark discoveries in human cancer, such as identification of gene amplification of the therapeutically targetable OTX2 gene in medulloblastoma, detection of thymidylate synthase amplification as a mechanism of chemotherapy resistance in colorectal cancer and comprehensive copy number analyses in large-scale cancer genome analyses.  The method can also be applied to other conditions, including analyses of chromosomal abnormalities in hereditary disorders.  Digital Karotyping complements other technologies licensed from Hopkins, including the CHASM computational method for identifying cancer-related mutations, which are being applied to both research and diagnostic applications.

Under the terms of its agreement with Johns Hopkins, PGDx has the right to sub-license the DK technology to third parties.

Mr. Newton was recently recruited to PGDx after a 19-year career at Genzyme Corporation, where he held a number of roles in marketing, commercial development and drug development.  He was most recently Vice President in the Oncology Division.

PGDx, which was originally located in the Johns Hopkins Science and Technology Park, has moved into larger laboratory and office facilities along the Inner Harbor area of Baltimore.

For more information on PGDx, visit:

About Personal Genome Diagnostics
Personal Genome Diagnostics (PGDx) provides advanced genome-mapping services and analyses to oncology researchers, clinicians and patients. The company was founded in 2010 by international leaders in cancer genetics at Johns Hopkins University.  PGDx conducts patient-specific analyses aimed at identifying the unique genomic alterations in tumors and linking them to the underlying biology.  PGDx employs cancer exome analysis, which enables comprehensive and reliable genome-wide identification of cancer-related mutations. The company's proprietary methods for genome sequencing and analysis are complemented by its deep expertise in cancer genomics.  PGDx's CLIA-certified facility provides personalized cancer genome analyses to patients and their physicians.  For more information, visit

 Contacts: Corporate

MediaPersonal Genome Diagnostics

BLL Partners, LLC Antony Newton

Barbara Lindheim Chief Commercial Officer

212 584-2276410-849-9189  

SOURCE Personal Genome Diagnostics Inc.
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