The NUT midline carcinoma (NMC) is a rare but fatal cancer for which systematic testing of therapy options has never been performed. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• February 2014

The rat model demonstrates that intrauterine growth restriction leads to a more heterogeneous distribution of airway lumen calibre in adulthood ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• October 2017

The absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• September 2021

Maternal pre-pregnancy obesity has been linked with an increased risk for negative emotionality and inattentiveness in offspring in early childhood. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Associate Professor Alexander Larcombe began work at the Telethon Institute in 2005 and is now a Senior Research ...

• 1. Telethon Kids Institute
• Projects

Hayley Melissa Christian O'Donnell HC M BSc (1st Class Hons), PhD W.Aust. BPsych (Hons), MPsych, GradDip Ed, PhD Program Head, Healthy Behaviours and Environments; National Heart Foundation Future Leader Fellow Honorary Research Associate 08 6319 ...

• 1. Telethon Kids Institute
• Projects
• The ARC Centre of Excellence for Children and Families over the Life Course

Manifestations of insistence on sameness and circumscribed interests are complex, with individuals varying considerably, not only in the types of behaviours they express, but also in terms of a behaviour's frequency, intensity, trajectory, adaptive benefits, and impacts. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• May 2024

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• Jun 2023

The Repetitive Behaviours Questionnaire for Adults (RBQ-2A) measures two factors of restricted and repetitive behaviours (RRBs) associated with autism. However, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) provides four criteria for RRBs: repetitive motor behaviours, insistence on sameness, restricted interests, and interest in sensory aspects of the environment (or atypical sensitivity). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

Shortage of ear, nose, and throat specialists in public hospitals can result in delays in the detection and management of otitis media. This study introduced a new hospital-based telehealth service, named the Ear Portal, and investigated its role in improving access to specialist care. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

T-cell lymphoblastic lymphoma (T-LBL) is a rare and aggressive lymphatic cancer, often diagnosed at a young age. Patients are treated with intensive chemotherapy, potentially followed by a hematopoietic stem cell transplantation. Although prognosis of T-LBL has improved with intensified treatment protocols, they are associated with side effects and 10-20% of patients still die from relapsed or refractory disease. Given this, the search toward less toxic anti-lymphoma therapies is ongoing. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023