Listed are the Telethon Kids Institute research teams involved in our Genetics and Rare Diseases Program. This program sits under the Chronic and Severe Diseases research theme. ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases

Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@ ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Precision Health
• Computational Biology

Time-critical transcriptional events in the immune microenvironment are important for response to immune checkpoint blockade (ICB), yet these events are difficult to characterise and remain incompletely understood. Here, we present whole tumor RNA sequencing data in the context of treatment with ICB in murine models of AB1 mesothelioma and Renca renal cell cancer.  ...

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

Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances. ...

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

To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs. ...

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

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

Immune checkpoint therapy (ICT) results in durable responses in individuals with some cancers, but not all patients respond to treatment. ICT improves CD8+ cytotoxic T lymphocyte (CTL) function, but changes in tumor antigen-specific CTLs post-ICT that correlate with successful responses have not been well characterized. Here, we studied murine tumor models with dichotomous responses to ICT. ...

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

ClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis. ...

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

Upper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium ...

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

A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages ...

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