Fifth annual Rare Disease Day highlights the need for more research
Today is the 5th annual Rare Disease Day, designed to raise global awareness amongst the general public and policy makers about rare diseases and their impact on patient’s lives. Information recently released by EURORDIS, the organiser of Rare Disease Day 2012, suggests that “due to the low prevalence of each disease, medical experts are rare, knowledge is scarce, care offering inadequate, and research limited.” To meet the need for further research into this area, Oxford Gene Technology (OGT), a provider of innovative genetics research and biomarker solutions to advance molecular medicine, has recently announced a dedicated rare disease version of its Genefficiency™ Targeted Sequencing Service, as many rare diseases have a genetic basis that is best studied using high resolution molecular tools. By utilising the service, it is now faster and easier than ever before for researchers to investigate the biological nature of a given disease, so that more effective treatment strategies can be designed and implemented.
OGT’s Chief Executive Officer, Dr Mike Evans, commented: “The Rare Disease Day campaign plays a significant role in raising the awareness of debilitating and life-threatening diseases. Although in combination these diseases affect millions worldwide, their individual rarity combined with the relative complexity of carrying out in-depth genomic analysis has meant that these diseases have not traditionally attracted extensive research efforts. To help promote research in this area, our Genefficiency Targeted Sequencing Service includes an optimised offering for investigating rare diseases. Researchers can now assess the genetic basis of any disease, without the need for expensive in-house hardware, or internal technical and bioinformatics expertise. By making such research easier to carry out, we hope to help improve the quality of life for rare disease patients.”
OGT’s Genefficiency Targeted Sequencing Service utilises OGT’s independently accredited laboratory and quality control procedures, high-throughput capabilities, and easy-to-use analysis software to generate high quality data and rapid biological insight. Results are intelligently filtered, a feature unique to OGT’s Genefficiency service, generating a user-friendly HTML report that places features such as insertions, deletions and single nucleotide polymorphisms into biological context. The report also includes links to external databases, providing the clear identification of affected genes and proteins, as well as potential disease associations.
For more information on Rare Disease Day, visit www.rarediseaseday.org
Visit OGT’s website to learn more about its Rare Disease Sequencing Service and to watch a video of its unique reporting software.
For further information, please contact:
Notes for editors:
About Oxford Gene Technology
Founded by Professor Ed Southern, Oxford Gene Technology (OGT) provides innovative genetics research and biomarker solutions to advance molecular medicine. The company has two trading businesses: Genomics comprises of CytoSure™ cytogenetics array, labelling and interpretation software products and services for the detection of chromosomal abnormalities, and Genefficiency™ Genomic Services, a unique combination of platforms, expertise and processing capabilities to deliver rapid, relevant genomic data. The Biomarkers business utilises proprietary next generation technologies to build a rich patent-protected portfolio of promising biomarkers for early stage cancer detection including advanced programmes in colorectal and prostate cancer plus the autoimmune disease systemic lupus erythematosus.
CytoSure™ and Genefficiency™ NGS browser: For Research Use Only; Not for Use in Diagnostic Procedures
CytoSure: This product is provided under an agreement between Agilent Technologies, Inc., and OGT. The manufacture, use, sale or import of this product may be subject to one or more of U.S. patents, pending applications, and corresponding international equivalents, owned by Agilent Technologies, Inc. The purchaser has the non-transferable right to use and consume the product for RESEARCH USE ONLY AND NOT for DIAGNOSTICS PROCEDURES. It is not intended for use, and should not be used, for the diagnosis, prevention, monitoring, treatment or alleviation of any disease or condition, or for the investigation of any physiological process, in any identifiable human, or for any other medical purpose.