Research Projects

Identifying genetic changes in brains with toxic protein clumps

Ryan West

Awarded to:
Dr Ryan West

Current award:

University of Sheffield

6 September 2021 - 5 September 2022

Full project name:

Transcriptome profiling of aging Drosophila Expressing 1000 repeat c9orf72 related dipeptide repeats






Frontotemporal dementia (FTD) is a relatively rare form of dementia and is thought to account for around one in 20 dementia cases.

The most common genetic cause of FTD is a mutation in a gene called C9orf72. This mutation causes proteins called dipeptide-repeats (DPRs) to clump up in the brain, ultimately leading to neurodegeneration.

The team led by Dr Ryan West will make use of fruit flies that are modified to contain DPRs that are very similar to those found in people with the C9orf72 mutation.

There are approximately 20,000 individual genes in our genetic code. The activity of each gene can vary over time and can be altered by diseases. The researchers will use cutting edge sequencing techniques to compare the genes that are switched on and off in young and old flies.

Fruit flies are well suited for this type of study. Around 75% of the disease-causing genes in people are also found in flies. Their short life span is an advantage when looking at how the activity of genes change over time as the flies age.

The researchers will also compare the data generated from this study to existing and future data sets from people living with FTD.

This Pilot Project aims to give insight into which genetic processes are disrupted by DPR accumulation in the brain. This will increase our understanding of the causes of FTD and identify potential new targets for treatments.

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