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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
Research
Functional annotation of the vlinc class of non-coding RNAs using systems biology approachWe show that vlincRNAs genes likely function in cis to activate nearby genes
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Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinPresent a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL
Research
DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic EndotheliumVEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...
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McCusker Charitable Foundation grant in support of the Undiagnosed Diseases ProgramThe Kids Research Institute Australia congratulates Prof Gareth Baynam and Dr Timo Lassmann on their grant over three years from the McCusker Charitable Foundation.
Research
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
Research
Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western AustraliaMedications are commonly used during pregnancy to manage pre-existing conditions and conditions that arise during pregnancy. However, not all medications are safe to use in pregnancy. This study utilized privacy-preserving record linkage (PPRL) to examine medications dispensed under the national Pharmaceutical Benefits Scheme (PBS) to pregnant women in Western Australia (WA) overall and by medication safety category.
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Reference exome data for Australian Aboriginal populations to support health-based researchOur data set provides a useful reference point for genomic studies on Aboriginal Australians
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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal AustraliansTraits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
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Antisense Transcription in Loci Associated to Hereditary Neurodegenerative DiseasesEvidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs