Every two days, a child is born in Australia with a rare neurogenetic condition, such as genetic epilepsy. These conditions, although individually rare, share common challenges, such as a long diagnostic odyssey, lack of effective treatments, and immense impacts on the personal and family lives of the children and their families.

CoGENeS is a collaborative group of researchers and multidisciplinary health professionals from Sydney Children’s Hospital Network and the School of Paediatrics and Child Health, UNSW.

Our research is guided by parents of children with genetic epilepsy and is designed to give children with rare neurogenetic conditions, and their families, hope. 

What we do:

  • We use the latest genomic technologies to find a genetic diagnosis for many children. 

  • We collaborate with international researchers on new treatments that are tailored to a child’s genetic diagnosis. 

  • We develop resources with families to educate, support and empower them.

Our goals

Our vision is to ensure children born with neurogenetic conditions receive the best and most equitable treatment and support to enable them and their families to live happy and fulfilled lives.

Research strengths

We put the patient and family at the centre of everything we do.

  • All our research projects are guided by the families of children with complex neurogenetic conditions at Sydney Children’s Hospitals Network. 

  • We are delighted to partner whenever possible with national and international patient groups such as GETA (Genetic Epilepsy Team Australia).

We are highly collaborative. 

  • We are highly collaborative and work with experts across multiple disciplines including neurology, clinical genetics, behavioural sciences, implementation science, neuroscience, and functional and molecular genetics. 

  • We are a balance of early-, mid- and late-career researchers, and actively look to mentor and support the next generation of health researchers wherever possible.

Our current major research areas include: 

  • Shortening the diagnostic odyssey for patients with rare neurogenetic conditions
    • We enrol families through collaborative undiagnosed disease pipelines to continue to search for an underlying genetic cause when one is suspected but not yet confirmed.
  • Understanding and responding to the information needs of families of children with rare neurogenetic conditions
    • We are conducting research to understand the information needs of families with rare neurogenetic conditions. Currently we are piloting a personalised information service GeneCOMPASS. Answers to the most frequently asked questions will become available to more families through Paediatric Epilepsy Network NSW

  • Equipping families and clinicians with resources to support their psychological wellbeing 
    • ClinEquip: co-designed interventions to equip clinicians with the skills and confidence to navigate and manage severe neurogenetic disease.   
    • Finding A Way: novel interventions aimed to support parents’ psychological wellbeing throughout their child’s illness trajectory. 

If proven effective and acceptable, these interventions could be translated to promote and enhance the psychological wellbeing of parents and clinicians in other healthcare disciplines. 

  • Exploring the clinical utility of genetic testing 

  • Neurodevelopmental outcomes and clinical utility of genetic testing in a cohort of Australian families with self-limited neonatal-infantile epilepsies

This project is being led by Dr Emily Innes, Neurology Fellow at SCHN. 

This project aims to assess whether there are long-term developmental effects of this group of genetic epilepsy conditions, using child and adult developmental assessments of genetically diagnosed families, as well as assessing the clinical utility of genetic testing in this cohort and its potential impact on management.

Our results

Peer-reviewed publications 

Finding A Way

  • These six brief positive psychology talks are designed for parents of children with severe epilepsy that persists over a long time. In one sense they may be of help for any parent who has a seriously ill child. However, they are specially prepared with parents of young children with very serious brain disorders in mind.  

Genetic epilepsy information for families and clinicians

We have created resources for both families and clinicians, which are hosted on the PENNSW website

Resources for families include:

  • genetic epilepsy 

  • genetic inheritance

  • genetic testing 

  • what to expect at a genetic appointment

  • genetic links and resources. 

Resources for clinicians include:

  • why genetic testing 

  • diagnostic yield

  • chromosomal microarray 

  • Fragile X PCR

  • first-line metabolic testing 

  • exome/panel

  • when to refer to genetics. 

Our experts

Help us ensure best diagnosis, treatments & support for children born with brain disorders.

Every two days, a child is born in Australia with a genetic epilepsy. Genetic epilepsy can cause serious brain damage, and children can experience life-threatening seizures several times a day. Children may lose the ability to talk, walk and even smile. Families can feel confused and alone. 

Our multidisciplinary, cutting-edge research is designed to give children with genetic epilepsy and their families hope. Using the latest genomic technologies, our research is identifying genetic causes for many children. We work in collaboration with international researchers to show how new treatments can be tailored to a child’s genetic diagnoses: opening up the possibility of reducing seizures and even curing these individually rare and chronic conditions. We are developing resources with families to educate, support and empower.

Your donation will enable us to progress ground-breaking research in gene-discovery, precision medicine, and improved models of care, improving these children’s lives.