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Research

Down Syndrome

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

Strep A (Group A Streptococcus)

Streptococcus A is a bacterium often found in the throat and on the skin.

Research

Language Development

Language is one of the most remarkable developmental accomplishments of early childhood. Language connects us with others and is an essential tool for literacy, education, employment and lifelong learning.

Research

Meningococcal Disease

Meningococcal disease is caused by the bacteria Neisseria meningitidis, or 'meningococcus'. It is an uncommon but very serious disease that can result in death if not recognised and treated quickly.

Research

Type 1 Diabetes

A lifelong auto-immune condition that can affect anyone, but is most commonly diagnosed in childhood.

Reports and Findings

Discover more about Telethon Kids Institute research.

Research

A Scoping Review of Methodologies Exploring Diet and Health Outcomes in Lactating Women: What Has Been Done and Where to Next?

Developing dietary guidelines for lactating women presents significant challenges, due to limited evidence being available on their specific nutrient needs and the biological impacts of various dietary dimensions. Current dietary recommendations often rely on data from nonlactating women, leading to potential inaccuracies.

Research

A microRNA-based dynamic risk score for type 1 diabetes

Identifying individuals at high risk of type 1 diabetes (T1D) is crucial as disease-delaying medications are available. Here we report a microRNA (miRNA)-based dynamic (responsive to the environment) risk score developed using multicenter, multiethnic and multicountry ('multicontext') cohorts for T1D risk stratification. Discovery (wet and dry lab) analysis identified 50 miRNAs associated with functional β cell loss, which is a hallmark of T1D. 

Research

Reduced Type-I Interferon by Plasmacytoid Dendritic Cells and Asthma in School-Aged Children

Allergic sensitization and reduced ability to respond to viral infections may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells (pDC) are rare immune cells that produce type I interferons (IFN-I) and play a key role in orchestrating immune responses against viruses. 

Research

Exploring healthcare providers’ perspectives on the factors that facilitate primary health care access among Aboriginal and Torres Strait Islander young people

Aboriginal and Torres Strait Islander young people aged 15-24 years of age often encounter challenges accessing and utilising primary health care (PHC). Providing health care responsive to the needs of Aboriginal and Torres Strait Islander young people requires the active involvement of healthcare providers (HCPs), who play a central role in healthcare delivery. This study explored perspectives of HCPs working in urban Aboriginal and Torres Strait Islander Community-Controlled Health Organisations (ATSICCHOs) on the factors that facilitate Aboriginal and Torres Strait young people accessing and utilising PHC services.