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The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
We show that vlincRNAs genes likely function in cis to activate nearby genes
Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL
VEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...
The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...
A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
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
Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances.
People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.