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        Research

        Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

        These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder ...

        Research

        ANRIL Promoter DNA Methylation: A Perinatal Marker for Later Adiposity

        Experimental studies show a substantial contribution of early life environment to obesity risk through epigenetic processes. ...

        Research

        Evolutionary genomics of epidemic visceral leishmaniasis in the Indian subcontinent

        Our results reveal the complexity of Leishmania donovani evolution in the Indian subcontinent in response to drug treatment ...

        People

        Dr Tim Barnett

        Head of the Strep A Pathogenesis & Diagnostics team, Deputy Director of the Wesfarmers Centre of Vaccines and Infectious Diseases ...

        6319 1319 Email me

        Research snapshots

        Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes. ...

        Research

        NTNG1 mutations are a rare cause of Rett syndrome

        A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

        Research

        Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in India

        Amphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani ...

        Research

        Characterising the development of molecular and hormonal circadian rhythm development in preterm infants

        Jane Pillow JP BMedSci (Dist) MBBS, PhD (Dist) FRACP Research Theme Head, Early Environment; Team Lead, Chronobiology jane.pillow@telethonkids.org.au ...

        Research

        Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

        We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. ...

        Research

        Tumor necrosis factor α induces α1B-adrenergic receptor expression in keratinocytes

        Our results suggest that inflammatory cytokines released during injury stimulate α1-AR expression in keratinocytes ...

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