The Royal Society estimates that dementia and neurodegenerative diseases will affect over 135M people globally by 2050. Many forms of dementia currently have no effective treatments available.
This study (Genes and Cognition) will increase our understanding of the role genetic variation plays in neurodegenerative disorders, including Alzheimer's Disease.
Available treatments are often used too late because people are not being diagnosed early enough. As a result, there is a real need to understand the early stages of the disease – before people develop symptoms – so that treatments can be tested at the earliest possible time.
The Genes and Cognition study (running from 2019 to 2022) is funded in part by the Alzheimer’s Society. It is led by Professor Patrick Chinnery, Head of Clinical Neuroscience from the University of Cambridge.
The key question is how neurodegenerative diseases like Alzheimer’s develop. It is already clear that development of these diseases is complicated and many participants will be needed to help unpick the causes and contributions.
More participants mean more powerful science. Rare or subtle contributions to dementia development can only be detected if many people take part in the study.
The aim of the Genes and Cognition study is to measure ‘age related penetrance’ (when memory and thinking are affected). The team compare tests of brain function (including memory) to a person’s genetics to look for genetic variants associated with disease.
They are also:
- Looking at known genetic risk factors and age related information
- Identifying those people at risk (low or high) of developing dementia or other neurodegenerative diseases
- Creating a cohort of 100,00 volunteers from the members of the NIHR BioResource.
This study is different from previous studies for a number of reasons.
Firstly, its size and scale; the team are recruiting 100,000 participants while most include only around 1000 people. Secondly, its age range; the team are recruiting people aged 20 – 80 while most studies only recruit people over the age of 50.
The study capitalises on the unique resources of the NIHR BioResource. It has a large panel of recallable members who have already completed a detailed heath questionnaire and who can be invited to join the Genes and Cognition study. In the future it is hoped that people at risk of dementia will be invited to join clinical trials of new treatments.
“We have an opportunity to capitalise on the power of the BioResource to develop our understanding of dementia and other neurodegenerative diseases and improve early diagnosis" said Professor Chinnery.
“Our aim is to tackle the major healthcare problems and, we hope, develop effective treatments in the future.”