Gene expression in the human brain

National Institute On Aging

Investigators

Linked publications & trials

Abstract

We have focused on developing datasets for gene expression to study the effects of mutations in the genes associated with neurodegeneration including Alzheimers disease. Using RNA-Seq allows us to apply a standard set of methods to a variety of model systems. Using this approach we have contributed to a number of different studies. One of the most interesting areas is in the application to the human brain, where we have a large series of brains with information on both genetic variability and gene expression. Our data has been used in many studies to determine whether a nominated genetic variant associated with a given disease (such as Alzheimers) or other phenotype, has a proximal biological effect on gene expression. We have moved our approach towards single cell genomics, generating a large dataset from a subset of donors with extensive genotypic information. This data has been used already to evaluate genes associated with multiple neurodegenerative diseases including Parkinson's disease and Amyotrophic lateral sclerosis. Our datasets have also been used by several other NIH colleagues and we have now initiated multiple cross-institute collaborations to develop more extensive resources.