Lead researcher: Professor Henry Houlden
Institution: University College London
Grant type: Project
Duration: 2 years
Scientific title: Whole genome sequencing in patients and families with dementia: building an open access UK resource
Why did we fund this project?
Comments from the Research Network:
'It is a pleasure to give full support to this open access study which should provide material for several research projects over ensuing years and is a great opportunity.'
'The findings and outcomes of this project will, in the future, make a difference to individuals and carers.'
'This appears to be an exciting and innovative project that may yield critical information in the future.'
What do we already know?
The causes of dementia are complex but most forms of the condition are thought to have at least some genetic component. The most common form of Alzheimer's disease has several known risk genes, the strongest of which is called ApoE4. Other forms of dementia, including some cases of young-onset Alzheimer's disease (usually classed as developing before the age of 65) and frontotemporal dementia, have known changes in certain genes that are linked to the development of the condition.
The 100,000 Genomes project aims to understand more about the genetic causes of cancer and various rare conditions. The project, run by Genomics England, will carry out in-depth analyses of the entire genetic makeup of people who have or may be at risk of these conditions. Advances in techniques and technology mean that researchers are able to pick up tiny changes in someone's genes and analyse whether these changes could contribute towards the development of a disease or condition.
The project sources genetic information by asking participants to donate blood samples. The donors will be people living with one of the conditions being studied; in some cases members of their immediate family, such as parents or siblings, will also be asked to donate.
What does this project involve?
The researchers on this project aim to make use of the resource to understand more about the genetics of the rarer forms of dementia. This grant will support a research nurse to source potential participants by liaising with clinicians along with organising the required consent from participants and sending blood samples for testing.
The project aims to collect samples from people affected by the rarer forms of dementia that are thought to have a strong genetic component. Samples will also be collected from unaffected family members. This will help the researchers to understand which genetic changes are likely to be linked to the development of the condition.
People will be sourced for the project through their doctor or through patient organisations, including Alzheimer's Society.
The data from this project will be made available to clinicians and researchers to be used in other projects exploring the genetics of different forms of dementia.
How will this benefit people affected by dementia?
By analysing a large number of genes from many different people, the 100,000 Genomes project will allow researchers to gain a greater understanding of the genes that lie behind certain conditions. Making this data available to researchers across the country will allow for many different teams to use high-quality samples in their research.
When we have a clearer picture of which genes contribute towards the development of dementia, we will be able to better identify who is most at risk. Understanding the genetic basis of a disease will also allow researchers to investigate molecular pathways related to these gene changes and identify potential targets for future treatments.