The discovery of rare genetic faults or ‘mutations’ that cause Alzheimer’s and frontotemporal dementia have revolutionised our understanding of these diseases. This includes identifying key molecular processes involved in the diseases that cause dementia.
Research is working to develop new treatments to target these processes.
Families with these mutations are now involved in clinical studies across the world, allowing us to understand the very first changes in these diseases that can power progress for everyone affected.
Identifying hallmark biological changes underpinning diseases like Alzheimer’s kick-started a drive to develop innovative detection techniques. These could significantly improve the accuracy and timeliness of diagnosis.
New techniques include state-of-the-art brain scans to distinguish different forms of dementia. Spinal fluid and blood tests can help predict the course of diseases and determine the effectiveness of new treatments.
Many of these are being tested in people as we speak, with some being used to help how a diagnosis is made in the clinic today.
Thanks to donated human brain tissue in the 1970s and 80s, researchers discovered people with Alzheimer’s lose a brain chemical called acetylcholine. This finding, followed by years of laboratory research, led to the development of drugs for Alzheimer’s called cholinesterase inhibitors.
These work by boosting the levels of acetylcholine in the brain. They can help to improve people’s thinking, memory, communication, or day-to-day activities for a short time.
These drugs include donepezil (Aricept), rivastigmine (Exelon), and galantamine (Reminyl).
Unfortunately, these drugs are not a cure. But they have helped millions of people manage their symptoms and have a better quality of life for longer.
Nobel-prize winning stem cell techniques have allowed researchers to turn skin cells from people with dementia into working nerve cells in the laboratory. This is fast-tracking research into the molecular causes of diseases like Alzheimer’s.
Researchers are also using this approach as an innovative way to screen for new drug treatments.
This technology is being harnessed in the Alzheimer’s Research UK Stem Cell Research Centre at the University of Cambridge.
An explosion in genetic technologies over the past three decades has powered the discovery of over 20 risk genes linked to Alzheimer’s. This has opened up important new avenues of research.
In 2012, Alzheimer’s Research UK funding led to the discovery of the risk gene TREM2. This triggered new research into the role inflammation plays in Alzheimer’s.
This finding influenced the work of over 1,000 research teams across the world and led to new Alzheimer’s drugs in clinical trials today.
Research is now showing inflammation to be a key early feature of Alzheimer’s and this is a major focus at the Alzheimer’s Research UK Drug Discovery Alliance.
A clinical trial demonstrated the dangers of long-term use of antipsychotic drugs in people with dementia. These findings kick-started a national campaign to reduce the use of antipsychotics, which has now fallen by over 52%.
Alzheimer’s Research UK has since launched a Global Clinical Trials Fund to support more vital clinical trials like this one.
Population studies, including the Aberdeen Birth Cohorts Studies and the Cognitive Function and Ageing Studies, are providing important clues to the risk factors for dementia. These risk factors include high blood pressure, smoking, depression, low physical activity, hearing loss, and education.
Alzheimer’s Research UK helped to fund a comprehensive 2017 report from the Lancet Commission highlighting dementia risk factors. The report estimated that around 35% of dementia cases could be prevented by eliminating nine risk factors.
The findings from these important studies are already driving public messaging campaigns around healthy brain ageing and informing clinical trials of preventative interventions.
Following the report, Alzheimer’s Research UK launched The Mike Gooley Trailfinders Charity Prevention and Risk Reduction Fund. This fund is the UK’s largest charitable investment in dementia risk reduction research. It currently supports four innovative research projects, taking up some of the biggest challenges in risk reduction research.
If we had a treatment that could delay the onset of dementia in people by 5 years, there would be:
- 469,000 (36%) fewer people with dementia.
- 399,000 (36%) fewer informal carers.
- £14.1 billion savings in the annual cost of dementia to the UK economy.