Faster, More Accurate Diagnosis For Genetic Disease Reaches Patients


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Faster, More Accurate Diagnosis For Genetic Disease Reaches Patients


Date: 10/06/2015

10,000 new patients a year are treated by the Manchester Centre for Genomic Medicine (MCGM) for a range of rare diseases including cancers, developmental disorders and disabilities including hearing and vision loss - diagnosis can be time-consuming and invasive. This is set to change as Manchester becomes the first NHS genetics service in the country to use genome DNA sequence analysis supported by SapientiaTM, a technology developed by UK company Congenica; a recent spinout from the Wellcome Trust Sanger Institute.

Congenica has just signed an agreement with the MCGM Laboratories at Central Manchester University Hospitals NHS Foundation Trust (CMFT) that will see Sapientia adopted into clinical service. 

Professor Graeme Black, Professor of Genetics and Ophthalmology at CMFT, says the new approach to diagnosis will have an immediate benefit for patients and further improve the existing services. 

He says; “Understanding why some changes in DNA cause disease and others have no impact is really challenging. Until now much of the analysis has been manual and done on a step-by-step basis, being able to automate the process so that it is easier for clinicians to reach a diagnosis is really exciting.  With Sapientia you can look at the whole genome and see more quickly which single genes are associated with disease, this offers the opportunity to offer a diagnosis to more people, more quickly.”

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Source: One nucleus

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