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Centre de recherche

Monday 16 September 2019 from 10:00 at 11:00

Scientific Conference

Realising the clinical significance of noncoding regions in the human genome


  • Marcel Dinger, PhD
    • Professor and Head of School for Biotechnology and Biomedical Sciences at UNSW Sydney

Clinical genomics promises unprecedented precision in understanding the genetic basis of disease. Understanding the impact of variation across the genome is required to realize this potential. Currently, clinical genomics analyses focus on protein-coding genes. However, the noncoding genome is substantially larger than the protein-coding counterpart, and contains structural, regulatory, and transcribed information that needs to be incorporated into genome annotations if the full extent of the opportunity to use genomic information in healthcare is to be realized. In this presentation, I will review the challenges and opportunities in unlocking the clinical significance of coding and noncoding genomic information and translating its utility in practice.

Marcel Dinger is Professor and Head of School for Biotechnology and Biomedical Sciences at UNSW Sydney.

Professor Dinger has more than 20 years experience in genomics as both an academic and entrepreneur. Marcel was the Head of Clinical Genomics at the Garvan Institute of Medical Research from 2012-2018 and founding CEO of Genome.One, one of the first companies in the world to provide clinical whole genome sequencing services. Professor Dinger’s research laboratory seeks to establish new links between phenotype and genotype, particularly between rare and complex disease and underexplored regions of the genome, such as pseudogenes, repetitive elements, and those folding into non-canonical DNA structures or are transcribed into noncoding RNAs. Harnessing the potential of population scale genomic datasets, and sophisticated data science methods, the laboratory aims to bring an objective perspective to better understand how the genome stores information and how it is transacted in biology. Professor Dinger graduated with a PhD in Biochemistry and Molecular Biology from the University of Waikato, New Zealand in 2003. Attracting more than 15,000 citations, he has (co)-authored more than 120 papers, many of which appear in the most high profile journals in the life sciences.

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Updated on 9/11/2019
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