Research Grant with the Murdoch Children’s Research Institute
Research Topic: Understanding the Motor Speech Profile and Linguistic Skills in SYNGAP1-Related Intellectual Disability. Dr Miya St John and Alecka Garrett
Overview: Dr St John’s research aims to systematically examine the speech and language challenges faced by individuals with SYNGAP1 related intellectual disability. This study will utilise standardised assessments to differentiate between motor-based speech disorders and cognitive-linguistic impairments, providing crucial insights for accurate diagnosis and effective therapy implementation.
“Our research is dedicated to providing families with the data they need to support their children’s communication development. We are excited to contribute to the understanding of SYNGAP1 related speech and language challenges” - Dr. Miya St John.
Research Grant with The Florey Institute of Neuroscience and Mental Health
Research Topic: Utilising Early Neurogenesis Disruption to Establish Genotype-Phenotype Correlations in SYNGAP1 Disorders. Associate Professor Snezana Maljevic, Group Head, The Florey Institute of Neuroscience and Mental Health
Overview: A/Prof. Maljevic’s research will investigate the impact of SYNGAP1 variants on early neurodevelopment using patient-derived induced pluripotent stem cells (iPSCs). This study aims to understand the correlation between early neurogenesis disruption and the severity of clinical presentations, potentially accelerating the development of targeted therapies.
“We are grateful to the Syngap Research Fund Australia and the Epilepsy Foundation for supporting our work on this rare and devastating disorder. This grant empowers us to delve deeper into understanding the disease and paves the way for developing precision therapies that could transform lives. We are honoured to be part of this meaningful journey.” Associate Professor Snezana Maljevic.