Acute leukaemia is the most common childhood malignancy. Almost all cases are classified as acute lymphoblastic leukaemia or acute myeloid leukaemia. Acute leukaemia of ambiguous lineage (ALAL) is a rare form of acute leukaemia that cannot be classified by a single lineage. Like other acute leukaemias, ALAL typically presents with nonspecific symptoms such as fatigue, fever, or bleeding. ...

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

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

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

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

A better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF ...

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

Deborah James Pat Strickland Read Holt DH JR PG PhD PhD, DSc, FRCPath, FRCPI, FAA Program Head, Immunobiology and Immunotherapeutic Program Honorary ...

• 1. Telethon Kids Institute
• Projects

we summarize the literature on the epidemiology and diagnosis of this invasive fungal infection and provide suggestions on the management of mucormycosis in children ...

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

Children with Primary Central Nervous System Lymphoma and no immunodeficiency have a good outcome ...

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

Christopher Blyth CC MBBS (Hons) DCH FRACP FRCPA PhD Director, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases ...

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

This study reports similar glycemic outcomes for patients attending diabetes clinics in metropolitan and non-metropolitan areas of WA, suggesting that a model of care provided as outreach from a specialized diabetes service is effective in achieving equitable glycemic outcomes. ...

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