Understanding the genetic link between dementia and Down's Syndrome

Lead Investigator: Dr Emma Jones
Institution: Wolfson Centre for Age-Related Diseases, KCL
Grant type: Fellowship
Duration: 3 years
Amount: £196,680

Scientific Title: Functional genetic analysis: mechanisms of dementia in people with Down's Syndrome 

What do we already know?

People with Down's Syndrome make up the second largest group of people with dementia under the age of 60. However, they have been largely neglected by research in the past.

In 2007 Alzheimer's Society campaigned for the rights of people with Down's Syndrome to have access to dementia drugs such as donezepil.

Research has identified genes that are linked to the development of the toxic plaques and tangles that develop in Alzheimer's disease.

Some of these genes are located on chromosome 21. People with Down's Syndrome have an extra copy of this chromosome. This presents a fascinating opportunity for research into early onset dementia.

What does this project involve?

Dr Jones will perform a genetic screen of people with Down's Syndrome and Alzheimer's disease. This will identify the most common forms of three important genes linked to dementia.

She will use a groundbreaking new stem cell technology. A person's skin cells (fibroblasts) can be transformed into stem cells that contain that person's DNA. These can then be used to make nerve cells.

In-depth analysis of nerve cells produced from people with dementia will be used to study how their genes cause the condition.

How will this benefit people with dementia?

This exciting project will shed light on the processes that take place during early onset dementia. It will improve our understanding of how genetics cause the changes that occur in the brain.

This will improve our understanding of the high incidence of dementia in people with Down's Syndrome.

In the future this work could enable clinicians to identify people who are likely to develop dementia by examining their genetic makeup.

This project has been generously supported by the Henry Smith Charity.