Detecting genetic loci for amyotrophic lateral sclerosis / motor neurone disease using homozygosity mapping for recessive loci and copy number variant assessment

Description:

What this research means to you: Although the vast majority of cases of MND are not directly caused by a significant mistake in the genetic code, it is likely that genes do make subtle contribution to the development of the disease. This project will use the latest technology to look for particular types of rare genetic variation in people with MND. Determining subtle genetic causes of MND is important in understanding the nature of the disease and for the development of treatments.

The researchers explain in more detail: Our project aims to make use of recent rapid advances in genetic technology and analysis to look at more subtle ways in which genes may cause MND. Using samples from the MND Association’s DNA Bank, we will analyse DNA samples from patients with early onset MND, which is believed to have a strong genetic component. We will look for genetic variations that are significant only when inherited from both parents. We will also look for the presence of extra or missing genes in the DNA samples of people with MND. We will pay particular attention to areas of the genetic code that have already been associated with MND.

We intend to study DNA from 192 people with MND. This is a relatively small number for a study of subtle genetic variations and as a result our data will probably not allow us to say conclusively that any variations we find are associated with the disease. However, we plan to make our findings publicly available within 3 months of completing our genetic analysis so that our results can be pooled with those of other research groups to draw more definite conclusions.

 The Institute of Neurology Web Page