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A The Kids Research Institute Australia researcher who is part of an international research project working to understand how our genes keep us healthy has been awarded an Au
Congratulations to Indigenous genomics researcher Dr Justine Clark, who is one of two scientists nationally to receive the Australian Academy of Science’s 2024 Aboriginal and Torres Strait Islander Science Award.
A researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries.
In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed.
Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.
Pediatric patients with recurrent and refractory cancers are in most need for new treatments. This study developed patient-derived-xenograft (PDX) models within the European MAPPYACTS cancer precision medicine trial.
The ability to balance conflicting functional demands is critical for ensuring organismal survival. The transcription and repair of the mitochondrial genome requires separate enzymatic activities that can sterically compete, suggesting a life-long trade-off between these two processes.
RNA-binding proteins and mitochondrial ribosomes have been found to be linchpins of mitochondrial gene expression in health and disease. The expanding repertoire of proteins that bind and regulate the mitochondrial transcriptome has necessitated the development of new tools and methods to examine their molecular functions.
Professor Aleksandra Filipovska has been appointed as the inaugural Louis Landau Chair of Child Health Research.
Citation: Arishi AA, Holland DC, Bracegirdle J, …… Garratt LW, Mantjani L, Moggach SA, et al. Genome-Guided Discovery and Heterologous Biosynthesis