Sequenom, Inc. revealed that it plans to develop a third-generation single molecule nucleic acid analysis technology based on exclusive license rights from Harvard University that covers a readout system technology for single DNA molecules based on simultaneous optical probing of multiple nanopores.

The technology recently received a National Institutes of Health (NIH) three-year award for the development of a next-generation sequencing technology aiming at a sub-thousand dollar genome. Nanopore-based single molecule readout technology is a method that can detect a single strand of DNA as it passes through a pore that is more than a thousand times smaller than the diameter of a human hair and should enable ultra-high throughput DNA analysis such as sequencing, genotyping, and RNA and epigenetic analysis on a whole genome scale. Financial terms of the agreement include up-front fees, milestone payments and royalties on future product sales, said the company in a press release.

"We are excited to have an opportunity to collaborate with such world class institutions and researchers in developing this potentially disruptive technology. This technology should enable us to provide highly competitive large-scale genotyping, and RNA analysis and ultimately sequencing-based solutions to the market. Our MassARRAY platform is the leading fine mapping/translational solution and as we continue to expand and develop new applications for the platform, we also plan to expand our market penetration into the complementary whole genome analysis/single molecule sequencing markets with this potentially redefining nanopore technology. Near term we expect this nanopore technology to deliver large scale genotyping solutions and long term we believe it has the potential to provide a commercially viable, rapid, sub-thousand dollar human genome sequencing solution," said, Harry Stylli, Ph.D., chief executive officer, Sequenom.

"As nucleic acid sequencing costs become progressively lower, it will become cost effective to replace more aspects of DNA and RNA analysis by sequencing. It is strategically important for Sequenom to be able to offer customers a cost-effective sequencing option and we do not believe the new second-generation sequencing methods will achieve the needed cost effectiveness," said, Charles Cantor, Ph.D., chief scientific officer, Sequenom.

"The synergy between the required manpower skills needed to develop nanopore sequencing and our current science and engineering expertise behind our MassARRAY technology is noteworthy. Optimising molecular biology tools for sample preparation and optimising software tools for fast signal processing are key requirements for nanopore sequencing and Sequenom currently has great strength and experience in these areas," Dr. Cantor added.

"This Nanopore-based single molecule readout technology combines solid-state nanopores and optical detection to overcome the major challenges associated with directly measuring electrical current differences between traversing molecules, challenges such as the need to wire every single pore and the very high flow rate and electrical noise that can prevent discrimination between single bases. This technology also avoids the uncertainties associated with the development of new chemical compounds required in other approaches and does not rely on the relatively slow enzymatic incorporation of nucleotides allowing for an extremely high-throughput of millions of bases per second," said inventor and development partner Amit Meller, Ph.D., Associate Professor at the Boston University Department of Biomedical Engineering.

"We are delighted that Sequenom will be developing this technology, which may enable the coming revolution in personalized medicine, which will greatly benefit the public's health," said Isaac Kohlberg, chief technology officer, Harvard University and head of Harvard's Office of Technology Development.