Functional Genomics

Our genetic code holds the instructions for building everything in our body, from determining your eye colour to the intrinsic details of how waste is taken out of a cell. Each gene holds the instructions for building a specific protein in our body which have particular functions, such as transporting cargo from one side of the motor neurone to the other. However, if the gene holds a mistake (mutation) or spelling difference (variation) then this could have an effect on the capability of the protein to fulfil its regular function. This session is therefore devoted to informing us what functions may become faulty in MND due to mistakes or spelling differences in the genetic code.



In this session, we were told of a new advance that was published in a journal last night! Prof Julien discussed that his research group have found a genetic spelling mistake in both people with the randomly occurring, sporadic form as well as the inherited, familial form of MND. This spelling mistake appears to bring forward the age at which a person first experiences symptoms of MND by almost a decade. The variation also increases the overall risk of somebody developing the disease. As we feel that this is quite an important finding, we have written a news in research article on this finding so for more information on this please visit:
http://www.mndassociation.org/research/news_in_research/gene_variation_leads.html