There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

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

Here we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis ...

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

Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated ...

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

Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications.  ...

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

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs ...

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

We review what is known about the diversity, life histories, host-parasite interactions and evolutionary relationships of trypanosomes in Australian wildlife ...

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

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. ...

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

Cord blood background IL-12 concentrations are important for protecting children from clinical malaria ...

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

The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

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

Autoantibodies to pancreatic islet antigens identify young children at high risk of type 1 diabetes. On a background of genetic susceptibility, islet autoimmunity is thought to be driven by environmental factors, of which enteric viruses are prime candidates. ...

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

The Childhood Leukemia International Consortium (CLIC) was established in 2007 to promote investigations of rarer exposures, gene-environment interactions... ...

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

This study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil. ...

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