Synopsis
The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual
disability and improved our understanding of the neuronal processes that result in cognitive impairment.
Meanwhile, families are building rare disease communities and seeking disease-specific treatments to change
the trajectory of health and developmental outcomes for their children. To date, treatments for intellectual
disability have focussed on metabolic disorders, where early treatment has improved cognition and
neurodevelopmental outcomes. Yet similar and new treatment strategies may be able to change the
neurodevelopmental outcome in a broader range of genetic forms of intellectual disability. These strategies
include substrate modification, enzyme replacement therapy, gene therapy and molecular therapies. In this
setting, intellectual disability should now be considered a potentially treatable condition and a strong candidate
for precision medicine.

Speakers
Professor David Amor trained in paediatrics and genetics at the Royal Children’s Hospital before completing
a PhD in Chromosome Biology at MCRI. In 2016 he was appointed to the Lorenzo and Pamela Galli Chair in
Developmental Medicine, prior to which he was Director of Victorian Clinical Genetics Services. His current
research focuses on the genetics of intellectual disability, the identification of genes for rare syndromes, and the
development of personalised and precision medicine for neurodevelopmental disorders.