Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

The role of SORL1 in Alzheimer’s Disease

A recent award from the charity Alzheimer’s Research UK to Dr Kathy Evans, will seek to understand the link between the gene SORL1 and Alzheimer’s Disease. June 2020

Alzheimer's Research UK logo

Alzheimer’s disease is a progressive neurological condition, the most common type of dementia in the UK. Progression of the disease involves the build-up of protein plaques within the brain eventually leading to nerve cell death.  The mechanisms involved that cause neuronal cell death in Alzheimer’s disease are unclear, however, it is known that mutations in the DNA of certain genes predispose individuals to the condition.  One such gene is SORL1, which is responsible for production of a protein called SORLA.  In humans, there is strong genetic evidence linking this gene to the disease.


The funded study will be carried out in collaboration with Prof Neil Carragher, IGMM, and Dr Simon Glerup, Arhus University, Denmark.  It will investigate how deletion of the SORL1 gene in human neurons in vitro impacts cellular processes, providing hypotheses as to how gene deletion may lead to neuronal death.  In addition, pilot work towards the development of a cell-based drug screening assay will be performed.


This study will increase our understanding of the cellular role of the AD risk gene, SORLA.  In the longer term it could lead to the development of high throughput cell phenotype-based assays that could be used to identify preventative treatments for AD.

Dr Kathy Evans



Dr Kathy Evans research group

Alzheimer's Research UK