Plant DNA preserved in ancient specimens has recently gained importance as a tool in comparative genomics, allowing the investigation of evolutionary processes in plant genomes through time. However, recovering the genomic information contained in such specimens is challenging owing to the presence of secondary substances that limit DNA retrieval. ...

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

With the emergence of novel vaccines and new applications for older vaccines, co-administration is increasingly likely. The immunomodulatory effects of BCG could theoretically alter the reactogenicity of co-administered vaccines. Using active surveillance in a randomised controlled trial, we aimed to determine whether co-administration of BCG vaccination changes the safety profile of influenza vaccination. ...

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

The purpose of this study was to characterise neonatal Staphylococcus aureus (SA) sepsis in Western Australia (WA) between 2001 and 2020 at the sole tertiary neonatal intensive care unit (NICU), examine risk factors for sepsis in the cohort, and compare short- and long-term outcomes to control infants without any sepsis. ...

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

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

Asthma and chronic obstructive pulmonary disease (COPD) are common chronic respiratory diseases, and some patients have overlapping disease features, termed asthma-COPD overlap. Patients characterized with ACO have increased disease severity; however, the mechanisms driving this have not been widely studied. ...

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

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

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

We hypothesised that adolescents with type 1 diabetes with a urinary albumin/creatinine ratio (ACR) in the upper tertile of the normal range (high ACR) are at greater risk of three-step diabetic retinopathy progression (3DR) independent of glycaemic control. ...

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