Dr Emanuele Pelosi and Dr Ann-Marie Patch

Dr Emanuele Pelosi

Title: The sex determining gene Dax1, an orphan still looking for a home.

Thirty years ago, the discovery of the gene Sry opened up a new generation of research in sex development. The small and seemingly simple gene was sufficient to trigger testis development from the undifferentiated, bipotential gonad. This discovery is widely considered – and was acknowledged by the journal Nature – as one of the most significant findings of the last century, and was soon followed by the identification of Sry direct target Sox9. Together, Sry and Sox9 sit at the root of sex development tipping the balance between male and female sex determination. However, a third master gene, the orphan receptor Dax1, affects both Sry and Sox9 signalling and yet its function remains unknown. Paradoxically, overexpression and deletion of Dax1 lead to the same phenotype, a puzzle remained unsolved for decades. During this presentation, I will talk about the steps we are taking to understand Dax1 function and complete the paradigm of sex determination.

Bio: Dr Pelosi received his PhD in Medical Biotechnology in 2006. He worked at the National Institute of Health, USA, where he studied sex determination, ovarian development, and premature menopause. He joined the University of Queensland in 2016, establishing an international and multidisciplinary team of clinicians and researchers to define the aetiology of DSD.

Dr Ann-Marie Patch

Title: Diverse analyses for the cancer genomics field

Abstract: Ann-Marie will present an overview the range of bioinformatics analyses typically used in collaborative projects of the Clinical Genomics Group at the QIMR Berghofer Medical Research Institute.

Bio: Dr Patch leads the Clinical Genomics team undertaking the analysis and interpretation of multiple-omics data, including whole genome sequencing, transcriptomics and methylomics in cancer research. Her team works across many cancer projects to develop methods for the interpretation of somatic mutations, copy number and structural variations and to integrate transcript structure, expression and methylation analyses. Her research interests focus on understanding the intricacies of genomic heterogeneity of cancer and how that affects response to therapy.