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Discover more about Telethon Kids Institute research.

Research save lives and contains the spread of COVID-19.

Research

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

Research

Anaphylaxis is rapid onset severe allergic reaction to an allergen. These allergens are most commonly food, insects, or medication. Anaphylactic reactions are serious and can be life-threatening.

Research

Despite recent improvements in treatment modalities for cystic fibrosis (CF), there is currently limited evidence and a lack of consensus regarding optimal treatment strategies for the different aspects of CF, including pulmonary exacerbations (PEx). We aimed to establish a prospective cohort of people with CF (pwCF) to evaluate alternative approaches to managing CF in the era of modulator therapies.

Research

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

High levels of sedentary behaviour are associated with poor child health outcomes such as obesity. Early childhood education and care (ECEC) services are a key intervention setting. Most ECEC policy-based interventions focus on children's nutrition and physical activity with few aimed at children's sedentary behaviour.

Research

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

Body position and movement during sleep is assessed for both clinical and research purposes. A diverse array of both assessment tools and classification systems are used to capture and code sleep biomechanics data.

Research

In Western Australia (WA) social activities occur in aquatic environments where alcohol promotion and consumption may be prevalent creating an aquatic alcogenic environment. This poses a challenge for drowning prevention efforts.