Study of rare genetic variants in Alzheimer's disease

Research project: Powerful study of rare variants in Alzheimer's disease

Lead researcher: Dr Rebecca Sims
Institution: Cardiff University
Grant type: Fellowship
Duration: 3 years
Amount funded: £211,281
Start Date: April 2012
End Date: February 2016

What was the project, and what did the researchers do?

The likelihood of developing Alzheimer's disease is partly genetic, with almost 30 genes identified that have particular changes (or variants) associated with the risk of developing the condition. Most of the gene changes that contribute to this risk are common, and unsurprisingly, this is where most research has focused.  Genes that are not very common (called rare genetic variants) are understudied, even though some of these may have a greater effect on a person's risk of Alzheimer's. 

This project used information from 69,255 research participants to search for new genes that strongly modify the risk of Alzheimer's disease. 

What were the key results and how will this benefit people with dementia?

The primary outcome of this project was to identify rare variants of genes that affect a person's risk of developing Alzheimer's disease. Dr Sims was able to identify two risk genes that had not been previously linked to the condition and further work confirmed these findings.  Both of the genes discovered were predicted to function in the immune system. 

The second objective was to develop novel analytical techniques for data analysis. Dr Sims achieved this through completing an MSc in Genetic Epidemiology and Bioinformatics, passing with Distinction. Throughout the project, existing methods were adapted and developed to meet the specific needs of the study. 

An additional objective of the project was to develop a dataset that could be used in future work. This dataset is now complete and will be made available to researchers following publication. 

What happened next? Future work and additional grants

The funding received from this Alzheimer's Society fellowship allowed Dr Sims to successfully secure a tenured position at Cardiff University, which provides the platform to continue her research.

How were people told about the results? 


This work was presented at five research conferences, and to lay audiences in three Alzheimer's Society meetings