GnuBIO has successfully sequenced a cohort of blinded clinical samples at Montreal Heart Institute
CAMBRIDGE, Mass.–(BUSINESS WIRE)–Jul 19, 2011 – GnuBIO, Inc is a pioneer in the Desktop DNA sequencing market, announced today that it has shipped an Early Access system to the Université de Montréal Pharmacogenomics Centre at the Montreal Heart Institute, where the system was used to accurately sequence a blinded cohort of clinical cardiomyopathy samples. The GnuBIO system will allow researchers and clinicians to sequence patients cost effectively on a per sample basis, thus obviating the need to batch samples. Furthermore, the system will have the ability to provide clinicians with genetic results within a couple of hours, as opposed to weeks.
GnuBIO has stated that the aim of the Early Access program was to demonstrate the robustness of both the instrument and the chemistry, while applying clinical diagnostic requirements on workflow and sample number, in an external laboratory. “The system installation was essentially plug and play, with total installation time of less than 20 minutes, inclusive of reagent set up”, stated Sepehr Kiani, Executive Vice President of Product Development for GnuBIO, www.gnubio.com. “The GnuBIO system is engineered as a stand-alone system, that does not require any external components, thus making installation and operation seamless”, Kiani continued.
The GnuBIO system was used to interrogate the cardiac form of troponin T, the TNNT2 gene, in a blinded cohort of French Canadian clinical samples. The TNNT2 gene is the tropomyosin-binding subunit of the troponin complex and is responsible for regulating cardiac muscle contraction. Mutations of the TNNT2 gene have been associated with familial hypertrophic cardiomyopathy a condition in which the heart, myocardium, becomes thickened and is the most significant cause of sudden unexpected cardiac death in any age group. The GnuBIO system was able to achieve 395bp reads, 10,000X coverage, with a raw (no data was filtered) per base accuracy of 99.94%. Heterozygous mutations were detected at 10X coverage with confidence equivalent to a PHRED score of 40.
“The GnuBIO system has the ability to address an unmet need in the cardiovascular clinic, whereby single patients can be sequenced quickly and in a cost effective manner, in order to quickly procure results that will enable the clinician to take preventative measures that may save lives”, stated Michael Phillips, Canada Research Chair of Translational Pharmacogenomics, and Director of the Université de Montréal Pharmacogenomics Centre at the Montreal Heart Institute. “The GnuBIO technology is the only technology that we have evaluated that really has the capability to satisfy the requirements of the clinical market. With the integration of next generation sequencing technologies into the clinic, we will revolutionize the way we practice medicine, and thereby create a significant paradigm shift in the healthcare landscape”, Phillips continued.
“We are thrilled to be working within the exceptional program and highly professional team that Dr. Phillips has assembled”, stated John Boyce, President and CEO of GnuBIO www.gnubio.com. “The GnuBIO team has worked extremely hard to produce a robust, exportable technology that clinical thought leaders, such as Dr. Phillips, could quickly implement in the clinic.”
GnuBIO, Inc. (www.gnubio.com) is a private company and a pioneer in the field of scalable DNA sequencing technology for the Diagnostic and Applied Markets. Utilizing its proprietary microfluidic and emulsion technologies, GnuBIO will work within these markets to develop nucleic acid analysis based systems that scale as a function of both patient sample and genomic region. The GnuBIO system has the capability of running numbers of samples that are in line with diagnostic and applied market requirements for a cost that is orders of magnitude lower than with current technology. The same system also has the headroom to compete in the high throughput market, and will achieve a comparable output, in hours, to what the leading technology takes weeks to produce.
About the Beaulieu-Saucier Université de Montréal’s Pharmacogenomics Centre
The Beaulieu-Saucier Université de Montréal’s Pharmacogenomics Centre at the Montreal Heart Institute is a cutting-edge GLP clinical genotyping laboratory that supports clinical trial work and consists of two parallel components: a technology development platform and a clinical operations platform. Its aim is to develop and integrate genomic biomarkers into healthcare. The Centre is primarily focused on personalized medicine offering specialized pharmacogenomics services and technologically advanced tools to clinical, industrial and academic projects. The Centre brings together a multidisciplinary team of specialized researchers and students in genomic sciences, bioinformatics and clinical research studies. From a technological standpoint, the Centre was designed to meet the highest operating and security standards in the field and is the only such centre of its kind to be part of a Canadian academic setting and one of the few around the world.
Contact: GnuBIO, Inc.
Susie Truong Harborth, 617-446-6742
Senior Vice President, Business Operations