Childhood Cancer NF1

Harnessing biomedical expertise to develop a potential cure for a rare childhood cancer

Neurofibromatosis Type 1 (NF1) is a rare genetic disorder caused by a faulty gene which results in development of uncontrolled tumours in the nervous system.

NF1 usually manifests with ‘café au lait spots’, seen as brown patches on the skin that can form anywhere on the body, non-cancerous tumours on or under the skin called neurofibromas, as well as ongoing problems with bones, eyes and the general nervous system.

As part of an ongoing global partnership with medical, biomedical and biological experts, Teesside University’s expertise in the optimisation and design of gene therapies was central to kickstarting a new wave of research into finding a cure for this devastating illness.

Challenge

NF1 affects one in every 3,000 children around the world and has a range of manifestations. Alongside the biological implications, it has a huge psychological impact, both for the children affected and their loved ones. Current treatment involves regular monitoring, ongoing surgeries to remove tumours, medicine for secondary conditions as well as physiotherapy, psychological support and pain management.

As part of a global consortium of expert partners, Teesside University is committed to creating a global blueprint for driving positive and inclusive health outcomes. By working with key stakeholders across the wider research lifecycle, we hope to provide robust research to drive policy and social interventions, and this project has provided a singular opportunity to use our expertise to try and help find a treatment or cure for those suffering from NF1.

Solution

Co-collaborating with our partners, we helped to put in motion a new round of research, made possible thanks to funding from the Gilbert Family Foundation in America, which aims to accelerate the development of curative therapies to address the various underlying genetic abnormalities in NF1 patients. While there are still a great many hurdles to be overcome, recent successes have proven the potential of mutation-directed therapies and fuelled the hope of finding therapeutics for a cure.

Initial research was focussed on the feasibility of an approach known as an “exon-skipping,” which uses short single stranded DNA sequences to mask exons carrying pathogenic mutations such that they are excluded from the mature mRNA and an internally truncated but functional protein is expressed. Our researchers have shown in much pre-clinical work that exons skipping has promise as a potential therapeutic approach for NF1 patients could be developed given more research.

Impact

We are very excited to be able to research Neurofibromatosis type 1 and to be working alongside the Gilbert Family Foundation and esteemed colleagues at the University of Alabama. The three-year grant will allow Teesside University to take a deeper look into this rare disease to help the tens of thousands of people who suffer from this across the world.

With the aim of the project is to find a cure and create the medicine to treat patients suffering from NF1, even at this early stage we are also working to move towards clinical trials. Our research has also highlighted a range of potential other gene therapies for NF1 – for example using nanoparticles for targeted delivery of a working copy of the gene affected – and with further funding from the Gilbert Family Foundation and in association with University of Alabama and 4basebio, we are now paving a pathway to make this a reality in the coming years.