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Shining a light on Neurofibromatosis

There is no cure for Neurofibromatosis (NF), a rare genetic disorder that can cause tumours, cancer, epilepsy, disfigurement, blindness and learning difficulties including autism.

In 2018, Con and Anne Petropoulos established The Flicker of Hope Foundation to raise much needed funds to support researchers in their quest to find new treatments and improve the quality of life for those impacted by NF. Their daughter Zoe was diagnosed with NF at 4 months of age.

In the cruellest twist of fate, Con and Anne’s daughter-in-law, Elizabeth Petropoulos, was diagnosed with NF in late 2019. Sadly, Elizabeth passed away in October last year from NF related brain cancer, leaving behind her loving husband Nicholas and two small children.

In honour of Elizabeth Petropoulos, The Flicker of Hope Foundation has raised substantial funds to provide a grant to Dr Jim Whittle in the Brain Cancer Research Laboratory to support an NF research project. ‘Elizabeth’s Legacy’ forms the cornerstone funding for this project, focusing on NF2.

There are three types of NF, with NF2 among the rarer conditions, affecting 1 in 33,000 people worldwide.

Dr Whittle has brought together a team of experts from WEHI, Royal Melbourne Hospital and Royal North Shore Hospital to understand why some patients with NF2 develop tumours at different sites in their body, while others don’t. Additionally, while most patients with NF develop benign tumours, some of those tumours will turn cancerous, but there is limited understanding on how and why this happens.

“We believe if we look closer at this variability, we can uncover the specific genetic mutations and gene expressions with different tumour types,” Dr Whittle says.

“We will be looking closely at the molecular microenvironment of each of these tumour manifestations and then deciphering the genetic, epigenetic, and cellular alterations responsible for the formation and progression of multiple tumours in NF2 patients.

“This is the first time a multi-omic approach has been applied to this problem.

“We are grateful and indeed, honoured to be given this opportunity to find new treatments to improve the quality of life for those impacted by NF2.

During May, which is worldwide NF Awareness Month, Flicker of Hope run their annual major fundraising campaign, helping to shine a light on NF and bring hope to all those impacted by this devastating genetic condition.

Anne Petropoulos said: “It’s a great opportunity to shine the light on this little-known condition, educate people on the signs and symptoms of NF and raise much needed money for research. It’s also an important opportunity to let people with NF know they are not alone.”

Header image: Nicholas and Elizabeth Petropoulos, with their daughter Isabella and son Lucas.

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