The generous support of West Australians through Channel 7’s Telethon Trust will help support vital child health research at Telethon Kids Institute in 2023. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2023
• March

The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis... ...

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

Vanessa Timo Fear Lassmann VF T BSc (Hons), PhD BSc (Hons) MSc PhD Head, Translational Genetics Team Feilman Fellow; Program Head, Precision Health ...

• 1. Telethon Kids Institute
• Projects

To explore the perceptions of parents who had a child or adolescent (6-18 years) diagnosed with a rare disease who attended a mainstream school in Western Australia. Design and methods: A cross-sectional online survey was conducted with 41 parents of children with a rare disease. ...

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

The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. ...

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

Adrenal insufficiency is a rare disease caused by either primary adrenal failure (Addison disease) or by impairment of the hypothalamic-pituitary-adrenal axis ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• November 2010

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease. ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Development and Disability
• Child Disability

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

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• November 2018

The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases. ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Precision Health