Further Understanding the Genetics of Alzheimer’s disease

Theme 4.1

The number of genetic risk loci known to contribute to the development of late-onset Alzheimer’s disease (LOAD) has increased from 1 to 25 over the last 4 years. As the common Alzheimer’s disease (AD) susceptibility loci discovered so far account for less than 40% of AD heritability, our next challenge is to identify rare genetic susceptibility variants which contribute a significant individual impact of relatively large effect. Non-familial early onset Alzheimer’s patients are likely to have the highest loading of such genetic risk factors and represent the best cohort on which to undertake these studies.

The outputs from this work package will include:

  • Banking of 1,500 EOAD biological samples and rich phenotypic data.
  • Providing a valuable store of biological samples for future research.
  • Providing a platform to apply for substantial funding for gene discovery focussing on rare variants and to publish a minimum of 5 high impact papers.
  • Identification of 5 rare variants that contribute to EOAD
  • Testing of relationships between genetic findings and clinical and environmental factors.
  • Dissemination of findings through public engagement events.
Details of Work Package Lead
Prof Julie Williams - Cardiff University