• E-mail
• Print
• Comment
• Font Size
• Digg
• del.icio.us
• Discuss article

Polycystic Kidney Disease Assay at Cornell University Uses Transgenomic's Surveyor Nuclease & WAVE Technology

Posted on: Thursday, 2 April 2009, 16:01 CDT

OMAHA, Neb., April 2 /PRNewswire-FirstCall/ -- Transgenomic, Inc. (OTC Bulletin Board: TBIO). In a peer-reviewed paper published in the February 2009 issue of the journal Human Mutation, a team at Weill Cornell Medical College New York describes in detail the key advantages of using Transgenomic's Surveyor Nuclease technology for mutation scanning of PKD1 and PKD2, two important genes used in the diagnosis and prognosis of autosomal dominant polycystic kidney disease (ADPKD). The assay showed 100% concordance with the current standard, DNA sequencing, but decreased sequencing requirements by 80%, significantly reducing analysis time and cost.

"This paper is further validation of scanning technology based upon Surveyor Nuclease and the WAVE System." said Dr. Eric Kaldjian, CSO for Transgenomic. "Scanning to identify presence of mutations limits the amount of DNA sequencing required, since it is only necessary for confirmation of identified mutations. This rationale provides a logical and cost-effective improvement to the workflow for analyzing large genes such as PKD1 and PKD2, which Hanna Rennert's team demonstrated elegantly in their paper."

"We have been able to make effective use of Transgenomic's DNA analysis technologies to develop a screening assay for PKD1 and PKD2 that is comparable in sensitivity and specificity to DNA sequencing" said Dr Hanna Rennert, Assistant Professor of Pathology and Laboratory Medicine at Weill Cornell Medical College. "Moreover, the Surveyor assay is highly sensitive, enabling it to detect heterozygous changes not readily detected by sequencing. Indeed we were even able to establish that some samples incorrectly scored as homozygous mutations by DNA sequencing were shown by Surveyor Nuclease to be heterozygous."

ADPKD occurs at a rate of 1/1000 in the US population, affecting 500,000 people in the US and, worldwide, about 10 million. It is the most commonly inherited kidney disease. In 85% of ADPKD cases, the disease is caused by altered polycystin proteins, encoded by the PKD1 and PKD2 genes. As diagnosis in young people can be ambiguous, genetic analysis gives a strong indication of disease prognosis. Current analysis by DNA sequencing alone is very complex and expensive due to the size of the genes and the variety of mutations involved.

Transgenomic CEO Craig Tuttle said: "The WAVE System continues to prove to be an important platform in genetic analysis throughout the world. With the added functionality that Surveyor Nuclease brings in combination with the WAVE platform we are continuing to strengthen our position in high sensitivity genetic analysis. Important publications such as this validate the research and development that we have invested in these technologies."

Technical Information

Transgenomic's SURVEYOR Nuclease is a proprietary mismatch-specific endonuclease that efficiently detects any mismatches in double-stranded DNA and cleaves at the site of DNA mutations. It identifies all base substitutions, insertions and deletions and can detect multiple mutations in a single fragment, in individual or even pooled PCR samples. By pre-screening with Surveyor Nuclease, the complexity, cost and time for analysis is significantly reduced. Additionally, information is gained about the site of a mutation, allowing more accurate DNA sequence analysis when any given mutant allele is present at below 25% compared to the normal allele. SURVEYOR Nuclease's effectiveness in disease specific mutation discovery has been well documented in many peer-reviewed publications.

About Transgenomic

Transgenomic is a global biotechnology company that provides unique products and services for automated high sensitivity genetic variation and mutation analysis. Their offerings include systems, products, discovery and laboratory testing services to the academic and medical research, clinical laboratory and pharmaceutical markets in the fields of Pharmacogenomics and personalized medicine. Specific offerings include WAVE(R) DHPLC Systems, related consumables and assay kits, Cytogenetics automated systems, and Transgenomic Pharmacogenomics and Reference Laboratory Services. Transgenomic Pharmacogenomics and Laboratory Services utilize their technology and expertise to provide a menu of mutation scanning tests for over 700 cancer-associated genes and more than 60 validated diagnostic tests to meet the needs of pharmaceutical and biotech companies, research and clinical laboratories, physicians and patients. For more information about the innovative systems, products and services offered by Transgenomic, please visit: www.transgenomic.com.

Cautionary Statements

Certain statements in this press release constitute "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, which involve known and unknown risks, uncertainties and other factors that may cause actual results to be materially different from any future results, performance or achievements expressed or implied by such statements. Forward-looking statements include, but are not limited to, those with respect to management's current views and estimates of future economic circumstances, industry conditions, company performance and financial results, including the ability of the Company to grow its involvement in the diagnostic products and services markets. The known risks, uncertainties and other factors affecting these forward-looking statements are described from time to time in reports to the Securities and Exchange Commission. Any change in such factors, risks and uncertainties may cause the actual results, events and performance to differ materially from those referred to in such statements. Accordingly, the company claims the protection of the safe harbor for forward-looking statements contained in the Private Securities Litigation Reform Act of 1995 with respect to all statements contained in this press release.

SOURCE Transgenomic, Inc.

Source: PR Newswire

More News in this Category