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The LonDownS Consortium

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Why conduct this research?

DNA

The genetic, biological and environmental reasons for the large individual variations in those with DS are not fully known.

Our studies will help to determine those factors which influence the cognitive profiles of both adults and infants with DS, and the developmental origins of these individual differences. 

The results of these studies will therefore help us to understand more about individual differences between individuals with DS.

We are looking for dementia-related pathogenic and protective mechanisms and predictors of these mechanisms for better prevention, diagnosis, management, and ultimately, treatment of Alzheimer's disease in people with Down syndrome.

Our research comprises an inter-disciplinary group of researchers looking to find useful and novel therapy targets for later development, in partnership with industry in clinical trials, to improve the individual prevention and treatment of AD in DS.

Aims of study

  • Contribute to the development of earlier predictors and treatments for AD primarily for people with Down syndrome but also for the increasing numbers of the general population affected by this disease
  • To develop collaborations with other research teams with similar interests
  • To foster links with US and European colleagues to develop standardised assessments for babies and adults with DS to allow us to reliably share our results with our colleagues
  • To focus on individual differences and subgroups at the cellular, genetic and cognitive levels to explain why the DS phenotype varies so much
  • To correlate cognitive/genetic profiles with defects in neurogenesis, neurite/synapse plasticity, mitochondrial dysfunction, A-beta accumulation within participants' neurons, differentiated from induced pluripotent stem cells (iPSCs)
  • To create a biobank and genotype/phenotype database as platforms for add-on pharmacologic/metabolomic/imaging projects, and clinical trials

Uniqueness of study

This project aligns methods with other DS studies globally, but is unique in encompassing different age cohorts, integrating human cognitive development, ageing, neurobiology, genetics, cellular and mouse modelling in one consortium.

It is strategic for improved health, and timely, as therapies for DS cognitive deficits and decline are now realistic.