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DYRK1A regulates B cell acute lymphoblastic leukemia through phosphorylation of FOXO1 and STAT3DYRK1A is a serine/threonine kinase encoded on human chromosome 21 (HSA21) that has been implicated in several pathologies of Down syndrome (DS), including cognitive deficits and Alzheimer's disease. Although children with DS are predisposed to developing leukemia, especially B cell acute lymphoblastic leukemia (B-ALL), the HSA21 genes that contribute to malignancies remain largely undefined. Here, we report that DYRK1A is overexpressed and required for B-ALL. Genetic and pharmacologic inhibition of DYRK1A decreased leukemic cell expansion and suppressed B-ALL development in vitro and in vivo.
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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsAdvances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
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Talking skin: Attitudes and practices around skin infections, treatment options, and their clinical management in a remote region in Western AustraliaDocumenting carer, service provider and healthcare practitioner perspectives on skin infections provides more understanding of the context of treatment decisions
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Calculation of the age of the first infection for skin sores and scabies in five remote communities in northern AustraliaThe young age of the first infection with skin sores and scabies reflects the high disease burden in these communities
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Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine modelsThis JAK3A572V knockin model is a relevant new tool for testing the efficacy of JAK inhibitors in JAK3-related hematopoietic malignancies
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Using linked data to investigate developmental vulnerabilities in children of convicted parentsAlthough children of convicted parents experience a higher incidence of sociodemographic risk, their parents' criminal activity constitutes an independent risk factor for their development
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Topical antiseptics for chronic suppurative otitis mediaTo assess the effects of topical antiseptics for people with chronic suppurative otitis media
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An investigation of the determinants of quality of life in adolescents and young adults with Down syndromeQuality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships
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Development and Assessment of Cumulative Risk Measures of Family Environment and Parental Investments in the Longitudinal Study of Australian ChildrenThis study aimed to derive and assess summary indices of three domains of the family environment, including a Family Stress Index, Home Education Index and Parenting Index
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Respiratory function in healthy Emirati children using forced oscillationsForced oscillation technique measurements were feasible in Emirati school-children. New forced oscillation technique reference equation in Emirati children were derived.