UCL Queen Square Institute of Neurology


Scientists develop refined diagnostic tool for inherited dementias

19 September 2013

Researchers at the MRC Prion Unit and the NIHR Queen Square Dementia Biomedical Research Unit (BRU) have developed and tested an integrated tool (the ‘MRC Dementia Gene Panel’) to diagnose early onset, genetic forms of dementia, bringing together for the first time all 17 genes known to play a substantial role in causing inherited forms of dementia.

Using ‘next generation sequencing’, a modern method of analysing the genetic material or DNA from a patient’s blood sample, they were able to look for abnormalities in all of these genes simultaneously, more efficiently and effectively. Their work, published in the journal Neurobiology of Aging, shows that the technology is highly accurate and comprehensively identified the genetic abnormalities.

Professor Martin Rossor, BRU Director, said, “'This technology will revolutionise our ability to provide a rapid and cost effective diagnosis. It will be particularly important for those patients with a diagnosis of young onset dementia and their families. There is estimated to be over 18,000 people in the UK below the age of 65 with dementia and it is this young onset group that often has a family history of disease.”

Dr Simon Mead, who led the research at the MRC Prion Unit and the NIHR Dementia BRU, said, "We have developed this technology because we know many patients don't get an accurate diagnosis. We hope that this and related technologies will greatly improve the way we identify patients with genetic forms of dementia. Currently the tests for dementia genes are not widely available for doctors and, where they are available, the tests have been very expensive and it is hard sometimes to know who needs to be tested. What is really needed is a simple and cost effective way to screen all genes at the same time, which could be used in a larger proportion of patients. It is likely that screening more patients in this way will pick up genetic causes that might otherwise be missed.”

Read more:

John Beck, et al. Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiology of Aging, Available online 31 August 2013 DOI: 10.1016/j.neurobiolaging.2013.07.017

NIHR Biomedical Research Centre news http://www.uclhospitals.brc.nihr.ac.uk/news/scientists-develop-refined-diagnostic-tool-inherited-dementias