Decoding the cellular and genetic blueprint of neurodevelopmental disorders

Dr Adam O’Neill

Disorders of neurodevelopment are multifaceted; they affect how people move, think, feel and behave. Conditions in this category include intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder (ADHD) and dyslexia. As a group they affect 1-510% of children and result in substantial personal, physical, psychological, social and economic costs for individuals, their whanau and the New Zealand health care system.

Most patients with neurodevelopment disorders have no genetic diagnosis

Despite intensive genetic investigation, the complexity around neurodevelopmental conditions proves difficult in deciphering the responsible genetic change in 50-70% of children living with these conditions. Understanding the molecular changes that lead to neurodevelopment disorders is also made difficult by limited access to the tissue of relevance – the developing human brain.

Harnessing stem cell research to pinpoint genetic factors

Dr Adam O’Neill and his team at the University of Otago have embarked on a research programme that uses advances in stem cell research, namely converting patient skin cells into neuronal cells, to model how each individual’s condition develops from onset to maturation. Appreciating that many gradual changes in the DNA blueprint of each patient may influence the development of the condition, Dr O’Neill will use this culture system in addition to a range of genomic tools to pinpoint the precise cellular and genetic events leading to these disorders.

It’s hoped that data obtained by Dr O’Neill’s programme will allow a more detailed diagnosis for these children with neurodevelopment disorders and support greater understanding of the diverse causes that lead to these conditions.

Cure Kids is pleased to be helping

Ultimately, the improvement in our understanding of the cellular and genetic influences contributing to neurodevelopmental diseases will inform on the diagnosis, prognosis and, for some, treatment for these children. Cure Kids is pleased to be funding this essential research.