Transcript profiling of brain tissue from lysosomal diseases
Research type
Research Study
Full title
Transcript profiling of brain tissue from inherited lysosomal neurodegenerative diseases
IRAS ID
317402
Contact name
Sara Mole
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
Brain diseases affect all ages and are a growing burden to health and society. Many are inherited, and caused by changes in genomic DNA, which specifies the proteins that make up organs and tissues. For most types, no cure is available, making them a significant priority for research and therapy development.
Many genes produce many different templates for making the protein, even in healthy cells, and this can change in disease. This project will comprehensively identify disease gene transcripts to enable a molecular and cellular understanding of the consequences of disease-causing mutations and consequent protein dysfunction. The project will profile transcripts from regions of frozen brain tissue stored in tissue banks. The first disease prioritised will be the neuronal ceroid lipofuscinoses (NCL, Batten disease), a group of inherited neurodegenerative disorders of children, to identify transcripts corresponding to different mutations. This will later be expanded to other rare inherited paediatric neurological diseases associated with dysfunctional lysosomes.REC name
London - Queen Square Research Ethics Committee
REC reference
22/PR/1348
Date of REC Opinion
28 Oct 2022
REC opinion
Favourable Opinion