Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

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

Nick Gerry Golding Ryan NG GR BSc DPhil BSc (Hons) MEnv PhD Honorary Research Fellow Senior Research Officer Nick.Golding@telethonkids.org.au gerard.ryan@telethonkids.org.au Honorary Research Fellow Senior Research Officer Professor Nick Golding is ...

• 1. Telethon Kids Institute
• Projects

The implications of the microbiome extend to virtually every branch of medicine, biopsychosocial and environmental sciences ...

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

Concepts of planetary health attempt to collectively address the biological, psychological, social, and cultural factors contributing to “Anthropocene Syndrome”, which encompasses the many wicked interrelated challenges of our time. It is increasingly evident that the wide array of causative factors is underpinned by attitudes, values, and worldviews. ...

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

The Milk Man app was an acceptable source of breastfeeding information and support that fathers and fathers-to-be are prepared to use throughout the perinatal period ...

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

The ecology of the early environment - including microbial diversity, nutrition, nature, social interactions and the totality of exposures in the wider "exposome" - have life-long implications for all aspects of health and resilience. In particular, the emergence of "microbiome science" provides new evidence for vital relationships between biodiversity and health at every level. ...

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

The “Earthrise” photograph, taken on the 1968 Apollo 8 mission, became one of the most significant images of the 20th Century. It triggered a profound shift in environmental awareness and the potential for human unity—inspiring the first Earth Day in 1970. Taking inspiration from these events 50 years later, we initiated Project Earthrise at our 2020 annual conference of inVIVO Planetary Health. ...

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

Treatments for food allergy are still lacking, yet progress is being made, and immunotherapy appears more effective than dietary avoidance. ...

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

Debbie Susan Palmer Prescott D SL BSc BND PhD MBBS BMedSci PhD FRACP Head, Early Life & Life-Course Health Program; Team Lead, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au susan.prescott@telethonkids.org.au Head, Early ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Food allergy can have significant effects on morbidity and quality of life and can be costly in terms of medical visits and treatments. ...

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

Food allergy is mediated by a combination of genetic and environmental risk factors, potentially mediated by epigenetic mechanisms. ...

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

In this study, we combined human-rhinovirus infection with a clinically relevant mouse model of aero-allergen exposure using house-dust-mite in an attempt to... ...

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