Committed to fostering Australian research while maintaining a strong collaborative relationship with FAST United States and global patient organisations. 

We focus our efforts on determining areas of unmet Angelman Syndrome research in line with the global vision for a cure and identify opportunites to fund research to address those gaps.

See where we have invested funds in research below.

Enabling

• Global Angelman Syndrome Registry
  • Registry Curator
  • TranSMART analytical platform

• Generation of an Angelman Syndrome model cell line
• Generation of mouse lines expressing human UBE3A antisense (co funded with FAST United States)
• Development and characterization of a pig model of AS (co funded with FAST United States)
• Quantifying EEG Abnormalities and identifying biomarkers in Angelman Syndrome (Co funded with the Angelman Syndrome Alliance)

Learning

• RNA binding motifs as therapeutic targets for Angelman Syndrome
• Expression profiling for mechanisms of minocycline action
• Health Economics in Angelman Syndrome
• Incidence of Food Sensitivity and Gut Dysbiosis in Angelman Syndrome (Co funded with FAST United States and United Kingdom)

Treatments

• Potential therapeutic approach for synaptic deficit in Angelman Syndrome (Co funded with the Angelman Syndrome Alliance)