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
GenefficiencyTM 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.
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