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Research

Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium - art. no. 5

Tests for Hardy-Weinberg equilibrium (HWE) have been used to detect genotyping error, but those tests have low power unless the sample size is very large.

Research

Glucocorticoid resistance in T-lineage acute lymphoblastic leukaemia is associated with a proliferative metabolism

We examined the baseline profile of a panel of T-ALL cell lines to determine factors that contribute to GC resistance without prior drug selection.

Research

Cerebral dominance for language function in adults with specific language impairment or autism

A link between developmental language disorders and atypical cerebral lateralization has been postulated since the 1920s, but evidence has been indirect and...

Research

Koolungar (Children) Moorditj (Strong) Healthy Skin

The Koolungar (children) Moorditj (strong) Healthy Skin project is the first ever co-designed research-service Australian study to describe skin health in urban-living Aboriginal koolungar.

Reports and Findings

Discover more about Telethon Kids Institute research.

Research

Kaat koort: Study protocol for a pragmatic randomized controlled trial of a multifactorial, multidisciplinary Aboriginal Health Practitioner-led Aboriginal dementia prevention intervention

Limited available data indicate that dementia prevalence rates among Aboriginal and Torres Strait Islander (hereafter Aboriginal) peoples are 3–5 times higher than the overall Australian population. Effective, pragmatic and scalable interventions are urgently required to address this disproportionate burden of dementia in Aboriginal populations.

Research

Suppressing recurrence in Sonic Hedgehog subgroup medulloblastoma using the OLIG2 inhibitor CT-179

OLIG2-expressing tumor stem cells have been shown to drive recurrence in Sonic Hedgehog (SHH)-subgroup medulloblastoma (MB) and patients urgently need specific therapies to target this tumor cell population.

Research

From Local to Systemic: The Journey of Tick Bite Biomarkers in Australian Patients

Tick bites and tick-related diseases are on the rise. Diagnostic tests that identify well-characterised tick-borne pathogens (TBPs) possess limited capacity to address the causation of symptoms associated with poorly characterised tick-related illnesses, such as debilitating symptom complexes attributed to ticks (DSCATT) in Australia. Identification of local signals in tick-bitten skin that can be detected systemically in blood would have both clinical (diagnostic or prognostic) and research (mechanistic insight) utility, as a blood sample is more readily obtainable than tissue biopsies.

Research

Parents’ Disclosure of Their Child’s Health and Neurodevelopmental Conditions: A Systematic Review and Qualitative Metasynthesis

Parents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.

Research

Glycemic and Psychosocial Outcomes of Advanced Hybrid Closed-Loop Therapy in Youth With High HbA1c: A Randomized Clinical Trial

To determine the efficacy of advanced hybrid closed-loop therapy in a high-risk cohort of youth on continuous subcutaneous insulin infusion with or without continuous glucose monitoring with suboptimal glycemia.