The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis ...

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

During respiratory inflammation, it is generally assumed that dendritic cells differentiating from the bone marrow are immunogenic rather than immunoregulatory. ...

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

Vitamin D may be essential for restricting the development and severity of allergic diseases and asthma, but a direct causal link between vitamin D... ...

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

 Work in progress: updated 24 July 2019  This web page is currently being developed to provide public access to the DPP's research publications. If ' ...

• 1. Telethon Kids Institute
• Projects
• Developmental Pathways Project

Brad Carol Helen Bailey Nicole Ilich Akilew Adane Uncle Noel Nannup Uncle Albert McNamara Aunty Millie Penny (Walley) Aunty Charmaine Pell Aunty ...

• 1. Telethon Kids Institute
• Our research

Summer holidays are nearly over, and with that, the never-ending requests for snacks that seem to come all day, every day. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2024
• January

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

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

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

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

Sarra Jenefer Jamieson Blackwell SE JM BSc (Hons) MSc PhD BSc with First Class Honours, PhD, DSc, FMedSci, FAA Senior Research Fellow Head, Genetics ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health