Murdoch Children’s Research Institute (MCRI)’s Dr Kiymet Bozaoglu has received an award to examine the impacts of a genetic condition that causes tumours to grow in and under the skin and learning difficulties.

A New Investigator Award (Early-Stage Investigator) from the US Department of Defense’s Neurofibromatosis Research Program will allow Dr Bozaoglu to examine the impacts of neurofibromatosis type 1 (NF1) on brain development and function.

In addition to benign tumours, children with NF1 are also at high risk of learning difficulties, ADHD and autism. The cause of these developmental issues is not currently known.

Image: Dr Kiymet Bozaoglu

Dr Bozaoglu will work closely with Associate Professor Jonathan Payne to understand how and why NF1 affects brain development and function. The three-year $660,000 grant will help her team grow brain cells in the lab that have been derived from NF1 individual’s own stem cells to investigate the impacts of the condition.

“By growing and studying stem cells from those with the condition we can explore the impact that NF1 gene dysfunction has on the brain and nervous system,” Dr Bozaoglu said.

“Our cutting-edge stem cell model will also help provide answers to why children with NF1 often have larger brains and experience a range of neurodevelopmental challenges including autism.”

Dr Bozaoglu said she would build on her existing NF1 research, supported by the Flicker of Hope Foundation, and the NF1 Barney Fund and other generous supporters.

“Having continuity in research is crucial and I’m heartened by the existing support and now this New Investigator Award,” she said.

“Our ultimate goal is to help children and families impacted by NF1, improve the quality of life for young people and start screening for new drugs and personalised treatments within five years.”

Read more about MCRI’s neurodevelopmental research.