Approved Research

The Genetics of Alzheimer's Disease: Investigating the Role of the Mitochondrial Genomic Variants and Family History in AD, and Replicating Previously Reported Genetic Variants

Lay summary

Alzheimer's disease (AD) is the only one of the top 10 causes of death with no disease altering treatments: we can't cure it, prevent it, or slow it down, and the total number of cases is rapidly increasing. The majority of clinical trials have failed and considering the impact of AD, there are too few underway. Our goal is to identify candidate therapeutic targets. Rich datasets are available through the UK Biobank, and elsewhere, that have not yet been fully explored and are likely to harbor additional insights into the biology of AD. Mitochondria are known to malfunction in AD and a number of research groups have identified correlations between variation in the mitochondrial genome and AD, but the precise role of the mitochondria remains unclear. We hope to determine whether or not genetic changes in mitochondria are responsible for AD and/or changes that happen in the brains of people with AD. Additionally, we plan to leverage previous discoveries to determine changes that occur because of known biomarkers. Finding these genetic changes will provide candidates for the development of therapeutics.