Vanessa Timo Fear Lassmann VF T BSc (Hons), PhD BSc (Hons) MSc PhD Head, Translational Genetics Team Feilman Fellow; Program Head, Precision Health ...

• 1. Telethon Kids Institute
• Projects

MECP2 duplication syndrome is a rare, X-linked, neurodevelopmental disorder that, unlike Rett syndrome, is more likely to affect boys. There is still ...

• Rett syndrome and Related Disorders
• About

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care ...

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

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.  ...

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

Mum Laura, Charlotte and brother Josh For thousands of WA children living with undiagnosed diseases, it’s hope. The computational biology team, a ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2021
• Paradigm shift

What would you discover to help a child? At Telethon Kids, our researchers are committed to Cancer research that makes a real difference. ...

• 1. Telethon Kids Institute
• Campaigns
• 2017
• Discover Series

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

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

Amoxicillin-clavulanate treatment is beneficial in terms of resolution of non-severe exacerbations of bronchiectasis in children ...

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

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

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype. ...

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