Birkbeck in £2.5m consortium to investigate link between Alzheimer's and Down's syndrome
A consortium of research institutions, has been awarded £2.5m from the Wellcome Trust
A consortium of four major London research institutions including Birkbeck has been awarded £2.5m from the Wellcome Trust to research the links between Down’s syndrome, learning disabilities and dementia.
The unique five-year inter-disciplinary research project by the London Down Syndrome Consortium (LonDownS) brings together leading geneticists, psychiatrists and neuroscientists from Birkbeck, UCL’s Institute of Neurology, the Blizard Institute at Queen Mary, University of London and the National Institute for Medical Research (NIMR).
Unique project aims for earlier diagnosis
Down’s syndrome is the most common condition involving learning disability, and arises when someone has an extra copy of chromosome number 21. The LonDownS project aims to understand why people with Down’s syndrome are much more likely than the general population to develop Alzheimer’s disease (dementia). It will also look for markers that can identify those people with Down’s syndrome who go on to develop dementia. Researchers are hoping to identify risk factors for dementia during infancy, which will help to target preventative treatments.
Professor Annette Karmiloff-Smith (pictured, right), from Birkbeck’s Centre for Brain and Cognitive Development, said: “Our aim is to understand how learning disabilities develop in people with Down’s syndrome, and to identify the processes involved in the decline that often occurs as people with Down’s syndrome age. We want to understand why some people with Down’s syndrome go on to get dementia, and others do not, despite having Alzheimer’s brain pathology.”
Early intervention
The researchers will work with US and European colleagues to develop similar assessments for babies and adults with Down’s syndrome, focusing on individual differences and sub-groups within Down’s syndrome. The research will examine these groups at cellular, genetic and cognitive levels to explain why the Down’s syndrome behavioural and cognitive profile varies so much.
Prof Karmiloff-Smith said: “It would be a huge step forward in Down’s syndrome research if we could identify as early as infancy those individuals with Down’s syndrome whose genetic, cellular and neuro-cognitive makeup suggests that they may go on to develop dementia, and those who will not. In that way we can start to research very early interventions through clinical trials aimed at circumventing later dementia. This is one of the most exciting projects in which I have been involved during my entire research career.”
The scope of the LonDownS project is unique in encompassing different age cohorts and integrating human cognitive development, ageing, neurobiology, genetics and cellular modelling, as well as mouse models.
Dr Andre Strydom, of UCL Mental Health Sciences Unit and Principal Investigator, said: “Our Consortium will use a variety of disciplines to help us investigate the link between Down’s syndrome and Alzheimer’s disease. We hope the insights this provides will help us diagnose the disease sooner and design novel treatments to benefit people with Down’s syndrome as well as those with Alzheimer’s disease in the general population.”
Testing infants
Working with Down’s syndrome organisations in the UK, Prof Karmiloff-Smith will be testing 150 infants aged six months to three years – a period of major cognitive and brain changes – using behavioural, eye-tracking and electrophysiological measures, alongside parental questionnaires. This work will broaden the focus of Birkbeck’s Centre for Brain and Cognitive Development, which looks at both typical and atypical development, including work on infant siblings of children with Autism Spectrum Disorders to identify biological and behavioural markers of autism earlier than normally diagnosed. The LonDownS project has the full support of the Down’s Syndrome Association.
If you have a baby or toddler with Down’s syndrome and would like to participate in the research (all travel and overnight hotel costs reimbursed), please email downsyndrome@bbk.ac.uk or a.karmiloff-smith@bbk.ac.uk for details.