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        Pediatric pineoblastoma: A pooled outcome study of North American and Australian therapeutic data

        Pineoblastoma is a rare brain tumor usually diagnosed in children. Given its rarity, no pineoblastoma-specific trials have been conducted. Studies have included pineoblastoma accruing for other embryonal tumors over the past 30 years. ...

        Research

        Severity and persistence of asthma and mental health: a birth cohort study

        The goal of the current study was to investigate asthma and mental health among youth in the community. ...

        Research

        Aboriginal and Torres Strait Islander Partnerships to Prevent Permanent Lung Disease (APPLE Study)

        André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head of Respiratory Health and Head of the BREATH Team at Telethon Kids Institute. He is passionate ...

        Research

        Prevalence of chronic wet cough, protracted bacterial bronchitis (PBB) and middle ear disease in the Kimberley

        André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head of Respiratory Health and Head of the BREATH Team at Telethon Kids Institute. He is passionate ...

        Research

        A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes

        Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation. ...

        Research

        CRE in Aboriginal Health and Wellbeing (CREAHW)

        From Marginalised to Empowered: transformative methods for Aboriginal Health and Wellbeing Chief Investigators: Professor Fiona Stanley (Telethon Kids Institute) Associate Professor Dawn Bessarab (University of Western Australia) Professor Juli ...

        Research

        Chemotherapy-induced peripheral neuropathy in children and adolescent cancer patients

        Brain cancer and leukemia are the most common cancers diagnosed in the pediatric population and are often treated with lifesaving chemotherapy. However, chemotherapy causes severe adverse effects and chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting and debilitating side effect. ...

        Research

        Early Years and Disadvantage: Matching Developmental Circumstances in Populations to Prevention and Intervention Opportunities

        In this chapter we use rich longitudinal data to examine the typical growth of vocabulary in children as they age from 4 years onwards. ...

        Research

        Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translation

        The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. ...

        Research

        Organization and expression of the mammalian mitochondrial genome

        The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation. ...

        Research

        Fidelity and coordination of mitochondrial protein synthesis in health and disease

        The evolutionary acquisition of mitochondria has given rise to the diversity of eukaryotic life. Mitochondria have retained their ancestral α-proteobacterial traits through the maintenance of double membranes and their own circular genome. Their genome varies in size from very large in plants to the smallest in animals and their parasites. The mitochondrial genome encodes essential genes for protein synthesis and has to coordinate its expression with the nuclear genome from which it sources most of the proteins required for mitochondrial biogenesis and function. ...

        Research

        Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

        The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations. ...

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