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        341-350 of 562 results for 'Rare disease'

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        Research

        Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

        KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia. ...

        Research

        Mapping mammalian cell-type-specific transcriptional regulatory networks using KD-CAGE and ChIP-seq data in the TC-YIK cell line.

        Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct... ...

        Research

        Evaluating the genetic contribution to rheumatic heart disease pathogenesis in Australian Aboriginal and Torres Strait Islander communities

        Jenefer Jonathan Blackwell Carapetis AM JM JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA AM MBBS FRACP FAFPHM PhD FAHMS Head, Genetics & ...

        Research

        Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro

        Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

        Research

        Searching for a technology-driven acute rheumatic fever test: the START study protocol

        The absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus. ...

        Research

        Hepatic sinusoidal obstruction syndrome during chemotherapy for childhood medulloblastoma: Report of a case and review of the literature

        Rishi Sury Nick Kotecha Gottardo RS NG MB ChB (Hons) MRCPCH FRACP PhD MBChB FRACP PhD Co-Head, Leukaemia Translational Research Co-Head, Brain Tumour ...

        Research

        Genetic susceptibility to otitis media in childhood

        Reviewed in this article these studies have identified positive association at 21 genes with association at five of these replicated in independent populations. ...

        Research

        The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based study

        It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing... ...

        News & Events

        UV offers new hope in fight against MS

        People at risk of developing multiple sclerosis (MS) have been offered a beacon of hope thanks to research into UV exposure. ...

        Research

        P2X7 receptor-mediated killing of an intracellular parasite, Toxoplasma gondii, by human and murine macrophages

        The P2X7R is highly expressed on the macrophage cell surface, and activation of infected cells by extracellular ATP has been shown to kill intracellular bacte ...

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