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        AERIAL allergy and asthma study celebrates recruitment of final baby

        The AERIAL study, in partnership with The ORIGINS Project, endeavours to understand if exposures during pregnancy and early life can affect the cells lining the airways in newborns, and whether this is associated with the development of wheeze, allergy and asthma later in childhood. ...

        Determinants of sleep disturbances in Rett syndrome

        Novel findings in relation to genotype ...

        Research

        Prenatal origins and health outcomes of male reproductive congenital anomalies diagnosed at birth and testicular cancer in adulthood

        Liz Milne E MPH PhD Honorary Emeritus Fellow Honorary Emeritus Fellow Liz is an epidemiologist specialising in the aetiology and prevention of ...

        PhD student - Clinical Epigenetics

        The Clinical Epigenetics team at Telethon Kids Institute is engaged in understanding the links between the molecular hallmarks of epigenetic control ...

        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. ...

        Research

        Identification of epithelial phospholipase A2 receptor 1 as a potential target in asthma

        PLA2R1 is increased in the airway epithelium in asthma, and serves as a regulator of airway hyperresponsiveness, airway permeability, antigen sensitization, and airway inflammation ...

        Research

        FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

        Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

        Research

        An unbiased exploration of the human regulatory landscape

        Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@ ...

        Research

        Interactions between acute lymphoblastic leukemia and bone marrow stromal cells influence response to therapy

        To identify links between drug resistance and gene deregulation we used oligonucleotide microarray technology. ...

        Research

        Streptolysins are the primary inflammasome activators in macrophages during Streptococcus pyogenes infection

        Group A Streptococcus (GAS) is a Gram-positive bacterial pathogen that causes an array of infectious diseases in humans. Accumulating clinical evidence suggests that proinflammatory interleukin (IL)-1beta signaling plays an important role in GAS disease progression. ...

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