Transgenomic adds DFCI's Cold-PCR mutation detection technology to its portfolio

Transgenomic, Inc. (OTC Bulletin Board: TBIO). The company announced today that it has licensed a high-sensitivity mutation detection technology called Cold-PCR from the Dana-Farber Cancer Institute (DFCI), Boston, MA. This variation of the standard PCR technology enriches mutations in DNA samples and is a much more sensitive technique for finding low level mutations in tissue and body fluids that are involved with a variety of diseases.

Cold-PCR was invented at DFCI by Dr. Mike Makrigiorgos who has demonstrated its effectiveness in enriching for mutations in cancer-related genes in samples where standard DNA sequencing is not sensitive enough to detect these very low concentration somatic DNA mutations. The licensing terms include exclusive rights to commercialize Cold-PCR technology combined with Sanger sequencing as well as all applications for mitochondrial DNA analysis.

Cold-PCR will have applicability in detection of cancer-related mutations where critical mutations are present at a very low percentage compared to normal DNA. Examples would be in blood and urine or where the tissue collected contains mostly normal cells. This would allow clinicians to use less intrusive methods for genetic analysis or allow more efficient use of tumor tissue samples. Additionally the method could enhance the detection of the emergence of cancer-drug resistance mutations, allowing early detection of relapse.

Transgenomic CEO Craig Tuttle noted: "We believe that Cold-PCR is a critical addition to our high-sensitivity mutation detection portfolio of cutting edge technologies. It will allow us to continue offering affordable, state-of-the-art solutions to challenging areas of genetic analysis and, we hope, allow us to be able to screen patient blood for early detection of cancer, detect cancer drug resistance or relapse earlier as well as expand our mitochondrial DNA analysis toolbox. We have long wanted a technology that would permit us to screen patients earlier in their development of cancer and we hope that Cold-PCR provides us the sensitivity and analytical accuracy to achieve this goal. Discovering cancers at a much earlier phase of development will have a huge impact on cancer diagnosis and treatment."

"During our option period we tested the feasibility of Cold-PCR and developed practical laboratory improvements to the technology," said Dr. Eric Kaldjian, CSO at Transgenomic. "We demonstrated reproducible 30 - 50 fold enrichment of mutant cancer gene DNA, without needing any a-priori information on the position of the mutation. What this means is that one mutant DNA molecule in a hundred is effectively changed to one in two. As a result, we expect that Cold-PCR has significant applications with standard Sanger sequencing methods. Combining Cold-PCR with Transgenomic's WAVE DHPLC and Surveyor Nuclease products may have the potential to detect one mutant copy of DNA out of as many as a thousand normal copies and the sensitivity is likely to keep improving. This will be valuable in cancer-related mutation detection of free DNA in blood and body fluids and in producing a mutation profile of primary tumors to predict resistance to targeted therapies. It could also have application in analysis of mitochondrial DNA mutations, which can be present at very low levels."

"We are delighted to be able to develop jointly the application of Cold-PCR to Transgenomic's existing technologies" said Dr. Mike Makrigiorgos, Director of Medical Physics and Biophysics at Dana-Farber and an Associate Professor of Radiation Oncology at Harvard Medical School. "Together they promise a significant solution to high sensitivity detection of somatic mutations that are key to cancer biology."