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Predisposition Screening for Paediatric Rare Diseases

Project Overview

This program aimed to streamline the rare diseases diagnostic journey for families through advanced genetic testing.

The program, established Gene2Care, to improve the standard of care, including timely and enhanced diagnoses and access to management and treatment. The family-centred program, funded by Luminesce Alliance, combines the efforts of Clinical Geneticists and Genetic Counsellors across Sydney Children’s Hospitals Network, while collaborating with world-leading experts in genomics. The program also incorporated GeneAdd a predisposition screening platform that utilises whole genome sequencing for diagnosing rare diseases in children. Additionally, it included a fellowship program to train young clinicians in interpreting and reporting genomic results, ensuring better understanding and informed management planning.

Collaborations

  • NSW Health Pathology
  • The Board Institute (USA)
  • The Children’s Medical Research Institute
  • The Sydney Children’s Hospital Network
  • Westmead Hospital
Summary

The rare diseases predisposition screening program, Gene2Care and GeneAdd, aims to improve the standard of care, including enhanced diagnoses and access to management and treatment.

Lead Investigators

  • David Mowat 2020

    Dr David Mowat

    Clinical Genetics Head Centre for Clinical Genetics Sydney Children’s Hospital Randwick
  • meredith2

    A/Prof Meredith Wilson

    Medical Geneticist Department of Clinical Genetics The Children’s Hospital at Westmead
  • Photo KBS

    A/Prof Kristine Barlow-Stewart

    Senior Research Genetics Counsellor Department of Paediatrics Women’s and Children’s Health UNSW
  • Roscioli-600x600

    A/Prof Tony Roscioli

    Staff Specialist in Clinical Genetics and Genomics NSW Health Pathology Randwick Group Leader, Neurogenomics NeuRA

Team

  • Ms Claire Wong

    Associate Genetic Counsellor Clinical Genetics The Children’s Hospital at Westmead

  • Dr Kristi Jones

    Co-Head, Department of Clinical Genetics The Children’s Hospital at Westmead

  • Dr Janine Smith

    Co-Head, Department of Clinical Genetics The Children’s Hospital at Westmead

  • Professor Chris Cowell

    Director, Research Sydney Children’s Hospital Network
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Acknowledgment of Country.

In the spirit of reconciliation, the Luminesce Alliance acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community.

We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.