Summary  

Dr Rebecca Sims and her research team are looking at repeated parts of the human genome to find links between specific mutations and the risk of Alzheimer’s disease. 

What do we already know?  

All the information about what makes living things function is stored in the genome. This is made up of over 20,000 genes which can carry information about specific traits or functions in the body.  

Some of these genes are known to be linked to Alzheimer’s disease. This means that if somebody has variations in these genes, they are more likely to develop the condition.  

Around half of all the genes in humans contain regions that are repeated tens or hundreds of times, these are called repeated elements. Some of these repeated elements reside in genes that carry information about part of the immune system called the complement system, which has been found to play a role in Alzheimer’s disease.  

If long repeated elements such as those involved in the complement system are mutated, they are known as structural variants. Structural variants in the complement system have been linked to some genetic conditions and may play a role in Alzheimer’s disease too. 

These structural variants are difficult to study because really long sequences of genes must be looked at in detail. However, recent improvements in technology have made it easier. 

What is this project trying to find out?  

In this project, Dr Rebecca Sims and her research team will analyse a large database of long sequences of genes in the complement system using a tool called SMRT-Link Structural Variant caller. By using this tool, they will study if there is any difference between structural variants in people with and without Alzheimer’s. 

The researchers hypothesise that variation in genes which carry information about the complement system are involved in Alzheimer’s disease and aim to identify these variants. 

Why is this important?

Researching the genetics of Alzheimer’s disease could allow earlier diagnosis for those living with the condition and potentially identify those likely to develop Alzheimer’s later in life. This could increase the likelihood of early treatments for those living with Alzheimer’s disease. This research can also open the door for new treatments against the condition and, overall, positively impact the lives of those with Alzheimer’s disease.