Today is the 5^th 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 clinical genetics and diagnostic solutions to advance molecular medicine, has recently announced a dedicated rare disease version of its Genefficiency^TM 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 and clinicians 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. Clinicians and 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 about its unique reporting software.