World breakthrough for Huntington’s Disease

Researchers at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London have developed a new DNA sequencing technology to diagnose the genetic disorder Huntington’s Disease.

DNAThe technology will drastically cut the waiting time to diagnosis, particularly in the most complicated cases, and has huge potential for application to other genetic disorders in the future.

These findings are a result of a collaboration between King’s College London, Viapath, the National Institute for Health Research (NIHR) Biomedical Research Centre at Guy’s and St Thomas’ NHS Foundation Trust and the South London Genomics Laboratory Hub.

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.

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

The team used MinION DNA sequencing devices made by Oxford Nanopore Technologies that provide results much faster than traditional testing methods. They have shown for the first time that 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.

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

This is the first time, technology of this kind has been used in an NHS laboratory and been credited through the United Kingdom Accreditation Service (UKAS).  In order to become credited, the technology must meet stringent quality control standards and produce reliable results on every sample.

Dr Deborah Ruddy, Consultant Clinical Geneticist at Guy’s and St Thomas’ NHS Foundation Trust, said:

Although there is currently no cure for Huntington’s disease, treatment and support can help reduce some of the problems it causes. The technology can reduce the distress that patients and families experience whilst waiting for results and administer treatments and make support available to patients sooner than previously possible.

The King’s Health Partners Genetics, Rheumatology, Infection, Immunology and Dermatology Clinical Academic Group promotes academic input into the delivery of state-of-the-art clinical services, fuels investigative clinical research, and promotes the translation of basic science discoveries. 

Read more on the King’s College London website.

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