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Functional Genomics

Functional genomic studies have the power to yield important insights into disease. The Functional Genomics Research Group, led by Dr Sarah Rea is researching the underlying mechanisms that cause disease, including bone diseases, with a primary focus on the neurodegenerative disorders; Motor neurone disease, Frontotemporal degeneration (FTLD).

Research Focus

Our Functional Genomics team primarily investigate disease-associated gene mutations through cellular models and imaging techniques. Dr Sarah Rea using her previous work in Paget’s disease of bone, has been able to characterise gene variants associated with ALS and FTLD as well as functionally characterising gene mutations for the same conditions.

Our functional genomics research areas look at investigating the role of gene variants on the pathological protein TDP-43 found in ALS and FTLD, including environmental stressors. The team identified Arsenic and proteasome inhibition increased levels of the gene and led to mislocalisation of the pathological protein from the nucleus to the cytoplasm. Continuing this line of research, the Functional Genomics Research Group wish to determine which of the environmental factors that have previously been associated with these diseases causes the gene variant-induced TDP-43 pathology.

To continue our work with the scaffold protein we are also looking at the effects of FTLD-associated gene mutations on specific gene variant-mediated autophagy and mitophagy. In addition, the research team will also investigate the use of antisense oligonucleotides in preventing a specific gene variant’s interaction with TDP-43.

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