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Nanopore-based DNA Sequencing Technology to Diagnose Genetic Disorder Huntington's Disease

Nanopore-based DNA sequencing technology has been developed to diagnose the genetic disorder Huntington’s Diseases, for the first time in the world.

The MinION is a small hand-held device that decodes individual strands of DNA by generating electronic signals as the DNA moves through pores in a membrane.

Sequence changes can be identified in real time and matched to a library of known genetic sequences to detect the presence of the genetic disorder.

MinION DNA sequencing devices provide results much faster than traditional testing methods.
These sequencing devices can meet the stringent, internationally recognised standards for use in clinical laboratories, providing “proof-of-principle” that this new technology can be introduced in the NHS.

Current technologies provide segments of DNA sequence that need to be analysed later which leads to a longer wait for results.

However, the technology must meet stringent quality control standards and produce reliable results on every sample.

Huntington’s disease is an inherited neurodegenerative disorder which stops parts of the brain working properly, with symptoms worsening over time and the disease usually becoming fatal within 20 years.

At present, individuals with symptoms of Huntington’s Disease have a blood test and then wait up to two weeks for the result.

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