Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Directed evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Composition of leukocyte populations in the first month of life remains incompletely characterised, particularly in preterm infants who go on to develop late-onset sepsis (LOS). The aim of the study was to characterise and compare leukocyte populations in preterm infants with and without LOS during the first month of life. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022

Invasive meningococcal disease (IMD) causes significant morbidity and mortality worldwide with serogroup B being the predominant serogroup in Australia and other countries for the past few decades. The licensed 4CMenB vaccine is effective in preventing meningococcal B disease. Emerging evidence suggests that although 4CMenB impact on carriage is limited, it may be effective against gonorrhoea due to genetic similarities between Neisseria meningitidis and Neisseria gonorrhoeae. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Infant allergy is the most common early manifestation of an increasing propensity for inflammation and immune dysregulation in modern environments. Refined low-fibre diets are a major risk for inflammatory diseases through adverse effects on the composition and function of gut microbiota. This has focused attention on the potential of prebiotic dietary fibres to favourably change gut microbiota, for local and systemic anti-inflammatory effects. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

Contemporary data for the global burden of sore throat and group A Streptococcus (Strep A) pharyngitis are required to understand the frequency of disease and develop value propositions for Strep A vaccines. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

24-hour Movement Guidelines for the Early Years promote that achieving all three-movement behaviour (sleep, sedentary behaviour and physical activity) recommendations is important for child health and development. We examined the association between meeting all, none and combinations of the Australian 24-Hour Movement Guidelines for the Early Years and social-emotional development in 1363 preschool (2-5 years) boys (52%) and girls. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Infants with cystic fibrosis (CF) develop structural lung disease early in life, and viral infections are associated with progressive lung disease. We hypothesized that the presence of respiratory viruses would be associated with structural lung disease on computed tomography (CT) of the chest in infants with CF. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

Previous research has highlighted children's frequent exposure to advertisements of unhealthy food and beverages on television. However, the food industry is increasingly utilising non-broadcast channels such as outdoor advertising (eg billboards, bus shelters, shop fronts) for product marketing. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022