Applied Genomics for Neurodegenerative Diseases

Dr. Patrizia Rizzu

Areas of investigation/research focus

Our laboratory has always been interested in studying the molecular mechanisms underlying pathogenicity in neurodegenerative disorders including frontotemporal lobar degeneration (FTLD) and Parkinson’s disease (PD).

In this context we have pursued genetic studies toward finding of genes responsible for the more rare forms of the diseases where the disease is inherited according to Mendeliam law and studies aiming to highlight the genetic contribution to the etiological process and pathogenesis of the more common and complex forms of the neurodegenerative disorders. In the latest the pattern of inheritance rarely occurs in Mendelian fashion and they are thought to result from a complex interaction among multiple predisposing genes and other factors including environmental contributions and chance occurrence.

The ultimate goal of our research is to create cellular models that mimic specific molecular aspects of disease and they can be used to find ideal targets for future therapy.

To gain a network perspective of disease related brain pathways and identify key nodes within these pathways we have decided to take a genome wide omic approach combining high throughput molecular (omics) and cell biology (cellomics) approaches. We are currently using brain tissues, iPCs and NPCs cells of human mutation carriers, sporadic cases and corresponding mouse models. Available carriers of any new identified gene from our whole exome/genome sequencing efforts will be also included. Transcriptomic approaches to study genome wide RNA expression of coding and non-coding transcripts is complemented with proteomics and epigenetic analysis in collaboration with research groups within DZNE and international consortia (FANTOM, IPDGC).

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