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Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.
A 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
Whole 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.
Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.
We 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.
We 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
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
The Kids Research Institute Australia congratulates Prof Gareth Baynam and Dr Timo Lassmann on their grant over three years from the McCusker Charitable Foundation.
Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required.
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.