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        Immunogenetics of Parasitic and Bacterial Disease

        Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis ...

        Research

        Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis

        Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated ...

        Research

        Mutational rescue of the activity of high-fidelity Cas9 enzymes

        Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications.  ...

        Research

        Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways

        Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs ...

        Research

        Host–Parasite Relationships and Life Histories of Trypanosomes in Australia

        We review what is known about the diversity, life histories, host-parasite interactions and evolutionary relationships of trypanosomes in Australian wildlife ...

        Research

        Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

        The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. ...

        People

        Liz Milne

        Honorary Emeritus Fellow ...

        Research

        An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder

        Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment ...

        Research

        The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

        The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

        Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

        Article title Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H. 2015. Aspects of speech-language abilities are influenced by MECP2 mutation ...

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