Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Alix Helen Keely Rigel Nicole Woolard Milroy Bebbington Paciente Wickens AW HM KB RP NW BPsych (Hons), PhD MBBS; FRANZCP; CATCAP MClinPsych/PhD MPH (Applied Public Health and Public Health Methodology), BSc (Anatomy and Human Biology) BHlthSc (Hons) ...

• 1. Telethon Kids Institute
• Projects

The long-term adherence to the dietary guidelines has not been evaluated against emergence of cardiometabolic risks in adolescents with increasing rates of... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• June 2015

This study aimed to determine the relationship between ULDCT-ILD and measures of pulmonary function in an asbestos-exposed population. ...

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

Despite decades of research, the mechanisms of ventilator-induced lung injury are poorly understood... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

Anna Hunt AH DipTch, BEd Research Administrator 08 6319 1290 Anna.Hunt@telethonkids.org.au Research Administrator she/her/hers Anna Hunt is a Research Administrator with the Youth Mental Health team. Anna’s background is in teaching. She completed a ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Larger samples of patients are needed to better understand if the differentiation between very early onset psychosis and early onset psychosis is justified ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

A systematic comparison of the cellular and molecular changes in neurons in vitro induced by low intensity magnetic stimulation at different frequencies. ...

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

HLA-A*32:01 is strongly associated with vancomycin-induced DRESS in a population of predominantly European ancestry ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• June 2019

We analysed hospital admissions of a predominantly Aboriginal cohort of children in the remote Fitzroy Valley in Western Australia during their first 7 years. ...

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

Antibodies that target immune checkpoints such as cytotoxic T lymphocyte antigen 4 (CTLA‐4) and the programmed cell death protein 1/ligand 1 (PD-1/PD-L1) are now a treatment option for multiple cancer types. However, as a monotherapy, objective responses only occur in a minority of patients. Chemotherapy is widely used in combination with immune checkpoint blockade (ICB). Although a variety of isolated immunostimulatory effects have been reported for several classes of chemotherapeutics, it is unclear which chemotherapeutics provide the most benefit when combined with ICB. ...

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

We study the tidal interaction of galaxies in the Eridanus supergroup, using H i data from the pre-pilot survey of the Widefield ASKAP L-band Legacy All-sky Blind surveY. ...

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