Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

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

Jenefer Timo Sarra Blackwell Lassmann Jamieson JM T SE BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD ...

• Telethon Kids Institute
• Our research
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• Genetics and Health

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. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

We are excited to announce that applications are now open for our 2024 Seed Funding grants.  The Rio Tinto Children’s Diabetes Centre; A JDRF Global Centre of Excellence in Diabetes Research (Global CoE) has competitive seed funding grants available for new projects. ...

• Rio Tinto Children's Diabetes Centre
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What the national Consumer Involvement Committee have been working on ...

• Rio Tinto Children's Diabetes Centre
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The abundance of cell-free microRNA (miRNA) has been measured in blood plasma and proposed as a source of novel, minimally invasive biomarkers for several diseases. Despite improvements in quantification methods, there is no consensus regarding how haemolysis affects plasma miRNA content. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

The transition to motherhood, although joyous, can be highly stressful, and the availability of professional postpartum support for mothers is often limited. Peer volunteer support programs may offer a viable and cost-effective method to provide community-based support for new mothers. The aim of this study is to determine the feasibility of a peer volunteer support program-The Mummy Buddy Program-in which experienced volunteer mothers are paired with, and trained to offer social support to, first-time mothers. ...

• Telethon Kids Institute
• Our research
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• 2021
• November 2021

The Opportunity The Oncogenic Signalling Laboratory is a collaborative group composed of clinical and lab-based researchers focused on the goal of ...

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We have a great opportunity for an enthusiastic individual with a breadth of technical skills to assist child health researchers with their data ...

• Telethon Kids Institute
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• Careers and Volunteering
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Telethon Kids Institute and GE Healthcare have joined forces to improve the health and wellbeing of children and families. ...

• Telethon Kids Institute
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• News & Events at Telethon Kids
• 2015
• February