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        Inching towards answers for children with ultra-rare CDKL5

        Did you know? CDKL5 Development Disorder (CDD) is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene, which provides instructions ...

        News & Events

        Rett syndrome research reveals high fracture risk

        Girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture. ...

        Research

        Clinical Implications of Minimal Residual Disease Detection in Infants With KMT2A-Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 Protocol

        Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide). ...

        Research

        A genome-wide approach to children's aggressive behavior: The EAGLE consortium

        Common variants at 2p12 show suggestive evidence for association with childhood aggression ...

        Research

        Elucidation of pathways driving asthma pathogenesis: Development of a systems-level analytic strategy

        Whereas asthma was rare in the late 1800s and early 1900s, the marked increase in its incidence and prevalence since the 1960s points to substantial gene ×... ...

        Research

        A positive feedback loop between alpha1-adrenoceptors and inflammatory cytokines in keratinocytes

        Our results suggest that reciprocal influences between alpha1-adrenoceptors and inflammatory cytokines may play a role in normal inflammatory responses ...

        Research

        A retrospective study of Babesia macropus associated with morbidity and mortality

        This is a retrospective study of 38 cases of infection by Babesia macropus, associated with a syndrome of anaemia and debility in hand-reared or free-ranging... ...

        Research

        ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.

        Two important risk factors for this disease are a positive family history and elevated intraocular pressure (IOP), which is also highly heritable. ...

        Research

        Silencing of TESTIN by dense biallelic promoter methylation

        Aberrant promoter DNA methylation has been reported in childhood acute lymphoblastic leukaemia and has the potential to contribute to its onset and outcome ...

        News & Events

        Telethon Kids Institute leads WA arm of Australia’s first needle-free COVID-19 vaccine study

        Enrolments for Australia’s first needle-free, gene-based COVID-19 vaccine study – to be led in WA by Telethon Kids Institute – are open. ...

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