Gina Anna Heather Trapp Gannett Croll GT AG HC BHSc(Hons1A), RPHNutr, PhD BSc, MSc BHSc ARC DECRA Fellow & Head of Food and Nutrition Research Research Assistant Program Coordinator 0410 589 374 6319 1464 08 6319 1469 Gina.Trapp@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects

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

Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL ...

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

This study aims to establish FASD prevalence among sentenced young people in detention in Western Australia (WA) ...

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

Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants ...

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

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

To determine the proportion of child maltreatment-related emergency department presentations in WA and describe the types of injuries associated with them. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

This study questions the causal effect of short interpregnancy intervals on adverse birth outcomes and points to the possibility of unmeasured or... ...

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

Publicly insured women usually have a different demographic background to privately insured women, which is related to poor neonatal outcomes after birth. ...

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

Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the... ...

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