Development and validation of a novel pre-clinical assay to detect triplet repeat expansions (TRXassay)

Challenge #4: Pre-clinical assay to detect instability of micro-satellite repeat


At least 30 inherited neurological diseases are caused by a genetic defect called a triplet repeat expansion. Individuals in families affected by Huntington’s disease, myotonic dystrophy type 1 or the other diseases in this category typically suffer debilitating symptoms, leading to severe loss in quality of life and, in some  cases, premature fatality. Unfortunately, there are no real cures or effective treatments yet. However, recent scientific discoveries point to potential treatment approach that may be effective not just for one of these diseases, but several and perhaps many of them. Pharmaceutical companies have expressed great interest in developing drugs for this potential treatment approach, but the lack of suitable laboratory measurements of triplet repeat expansions has largely  stymied  this  drug  discovery activity. This proposal is to develop a new, improved laboratory test for triplet repeat expansions that would be suitable for pre-clinical drug testing. Three research groups at public universities in Ireland and the United Kingdom have joined forces with a small company in the UK to offer a new way forward for laboratory measurements of triplet repeat  expansions. If successful, this new measurement method can be utilized by corporate sponsors of this research in their drug discovery efforts.


Name & Nationality

Applicant Category

  • LAHUE, Robert (Coordinator), National University of Ireland


  • MONCKTON, Darren, University of Glasgow


  • DION, Vincent, UK Dementia Research Institute (UKDRI) at Cardiff Universit

    Research Centre