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Showing results for "Neuromuscular disorders "
The newly created role of Clinical Services Manager will lay the groundwork for an exciting new early intervention centre for kids showing early signs of autism
Senior Research Fellow
Julian is the Program Manager for the Global Disease Modelling team at The Kids Research Institute Australia.
We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.
Epigenomic research at The Kids explores the links between childhood disease and the molecular hallmarks of epigenetic control.
The structures and functions of organelles in cells depend on each other but have not been systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and endoplasmic reticulum genes identified in a whole-genome CRISPR knockout screen for inducers of mitochondrial biogenesis stress, showing that defects in peroxisome, Golgi and endoplasmic reticulum metabolism disrupt mitochondrial structure and function.
Translation of developmental science discoveries is impeded by numerous barriers at different stages of the research-to-practice pipeline. Actualization of the vast potential of the developmental sciences to improve children's health and development in the real world is imperative but has not yet been fully realized.
A research review from The Kids for Child Health Research has cast doubt on the effectiveness of some complementary and alternative therapies for
Language disorder is highly prevalent in youth justice; however, orofacial, oromotor, speech, and voice anomalies have been largely overlooked. There has been some documentation of these among individuals with prenatal alcohol exposure (PAE), and adolescents with PAE are over-represented in youth justice.
Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.