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
LAHUE, Robert (Coordinator), National University of Ireland
MONCKTON, Darren, University of Glasgow
⇾ UNITED KINGDOM
DION, Vincent, UK Dementia Research Institute (UKDRI) at Cardiff Universit
⇾ UNITED KINGDOM