Research into a rare genetic disorder – a novel microcephaly gene which reduces brain size

Associate Professor Louise Bicknell, University of Otago

Microcephaly is a rare developmental disorder resulting in reduced brain size. Many of the genes involved affect the ability of brain cells to grow and divide. Brain size disruption occurs in many developmental disorders and is often associated with intellectual disability and autism.

A new genetic disorder has been discovered

Starting with a New Zealand family, Dr Bicknell and her team have discovered a new genetic disorder where patients have severely reduced brain growth and other brain structural anomalies, resulting in epilepsy and severe intellectual disability. Through their international networks, they’ve found five other patients with the same genetic alteration and the same set of clinical features. This provides strong evidence to support the new disorder.

Research will identify how this disorder affects brain development

The zebrafish is very genetically similar to mammals. Their use as an animal model to study developmental disorders, such as microcephaly, is well established.

Working with Professor Julia Horsfield, Otago zebrafish facility director, this project will use zebrafish to understand how the identified genetic alterations can disrupt brain development.

It’s hoped the data generated will prove this is a new disorder. It will also provide confirmation of the diagnosis for the family and be made available to the clinical genetics community. Importantly, the team will discover more about the role this new disease gene plays in brain development.

Cure Kids is helping to fund Associate Professor Bicknell’s project

By financially supporting this Otago University project, Cure Kids is helping the team to research a completely new genetic disorder and build international understanding of how it affects brain development in children.