Living with a long-term medical condition is associated with heightened risk for mental health and psychosocial difficulties, but further research is required on this risk for children and adolescents with a rare disease in the educational setting. The aim of this study is to describe parents’ perceptions of the psychosocial impact of rare diseases on their school-aged children in Western Australia. ...

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

Addressing the recognized challenges and inequalities in providing high quality healthcare for rare diseases such as children's interstitial lung disease (chILD) requires collaboration across institutional, geographical, discipline, and system boundaries. The Children's Interstitial Lung Disease Respiratory Network of Australia and New Zealand (chILDRANZ) is an example of a clinical network that brings together multidisciplinary health professionals for collaboration, peer learning, and advocacy with the goal of improving the diagnosis and management of this group of rare and ultra-rare conditions. ...

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

Childhood Interstitial lung disease (chILD) is an umbrella term used to define a broad range of rare, diffuse pulmonary disorders with altered interstitial... ...

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

The Undiagnosed Diseases Network International was established with the major aims of providing diagnoses to patients ...

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

The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches. ...

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

We present the case of a prepubescent man of African descent who developed a spitzoid melanocytic proliferation showing evidence of a novel promoter hijacking ALK-C2orf42 rearrangement, with atypical histology, clinically apparent metastatic disease, and abnormal cytogenetic findings, representing a rare genuine case of "Spitz melanoma of childhood." ...

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

Interstitial lung disease in children comprises a range of different rare diseases ...

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

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility ...

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

Discover. Prevent. Cure. Rare Diseases Neuromuscular disorders include many rare conditions, such as Duchenne Muscular Dystrophy and Spinal Muscular ...

• Wal-yan Respiratory Research Centre
• Our research
• Focus areas for the Centre

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

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