Flav Giorgini

Department of Genetics

Model organism approaches to molecular mechanisms in neurogenerative disorders.

We are using genetic and genomic approaches in model organisms to unravel the molecular mechanisms involved in the pathology of neurodegenerative disorders, such as Huntington's Disease (HD) and Parkinson's Disease (PD).

Huntington's disease (HD) is a fatal neurodegenerative disorder inherited in an autosomal dominant manner. This disease is caused by an expansion of a polyglutamine tract in the protein Huntington (Htt) and is characterised by atrophy in the striatum and cortex of the brain. Although the initiating trigger in HD is known, the critical molecular mechanisms underlying this devastating illness remain unresolved. Our work focuses on elucidating these molecular mechanisms with the hope of aiding in the development of therapeutic strategies for HD.

Parkinson's disease (PD) is characterized by dopaminergic cell loss in the substantia nigra and the presence of cytoplasmic proteinaceous inclusions called Lewy bodies. Depletion of dopamine results in the clinical manifestations of PD (resting tremor, slowness of movement, muscular rigidity, and postural instability). The vast majority of PD cases are thought to be idiopathic but 5-10% are due to genetic components, showing both dominant and recessive modes of inheritance. Linkage data have identified more than ten loci and mutations in several genes have already been mapped. Our studies are focused on DJ-1 (PARK7).

We are using yeast models of HD and PD to characterise conserved mechanisms involved in pathology of these diseases and to perform genetic screens to identify additional genes that modify disease-relevant phenotypes. In addition, we are validating these genetic modifiers of HD and PD in several model systems, including the fruit fly Drosophila melanogaster and mammalian cells.

For more information about Flav Giorgini follow this link. 

 

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Contact Details

College of Life Sciences
University of Leicester
Maurice Shock Building
University Road
Leicester
LE1 7RH