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Undiagnosed Diseases Program (UDP) and Bringing the benefits of precision medicine to children in Western AustraliaWe have started a project utilising whole genome sequencing of undiagnosed children living in WA to provide a definitive diagnosis. A major challenge here is that the role and functions of the inter-genic regions of our genome (the remaining 98%) are relatively poorly understood.
Research
An unbiased exploration of the human regulatory landscapeWe are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu
Research
Centre for Advanced Cancer Genomics (CACG)Current technologies to understand which genes are turned on or off only work on large amounts of biological samples. As a consequence all measurements we receive represent averages across multiple cell types present in the sample. The situation is comparable to studying the contents of a bowl of fr
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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
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.
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Assessing the unified airway hypothesis in children via transcriptional profiling of the airway epitheliumUpper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium
People
Timo LassmannFeilman Fellow; Head, Precision Health Research and Head, Translational Intelligence
Research
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanismSeven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
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Single-cell data combined with phenotypes improves variant interpretationWhole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
Research
Mining single-cell data for cell type-disease associationsA robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and