Genomic technologies in paediatric neurogenetic disease

World-leading research in genetic testing to diagnose, treat and prevent inherited brain and muscle disease.

Clinician: Dr Gina O'Grady, Paediatric Neuroservices 

This project has been awarded the Athlae Lyon Starship Clinical Research Award for 2017.

What: This study aims to use new genomic technologies to improve the diagnosis of paediatric neurogenetic disease. Neurological diseases can be difficult to diagnose, requiring an extensive array of invasive tests to be carried out on young patients, often without giving a definitive genetic diagnosis for the child and their parents. This is now changing thanks to Next Generation (DNA) Sequencing, a highly specialised and emerging approach to genetic diagnosis.  Currently, access to these new forms of genetic testing has only limited availability.  

Who: The study will investigate a group of children with severe neurological diseases.

How: The research will use the latest advances in whole exome sequencing, seeking to better understand the genetic cause of their disease.

Why: For the child, a definitive diagnosis will inform and improve treatment. Plus as a direct consequence of this study, new genetic diagnostic capability will be created at Starship, with the potential for far wider applicability, and greater use in the future. The potential impact of this study is significant both for individual children but also for New Zealand's healthcare system.