Dr Daniel Williamson, Northern Institute for Cancer Research, Newcastle University

01 December 2012
The search for an effective therapy for children with malignant rhabdoid tumours

Malignant rhabdoid tumours are rare but extremely lethal childhood tumours that have very few survivors. They are caused by mutation of a single gene, hSNF5/INI1.

Dr Williamson aims to understand the precise biological mechanism by which this mutation causes the tumours and use this knowledge to develop new, more effective therapies.

Amount of grant: £49,866  |  Date of award: December 2012

Malignant rhabdoid tumours (MRT), which can occur in any part of the body, are a rare form of childhood cancer that most frequently occur in very young children: 60% of cases occur before the age of one year, and 80% before the age of two years.

They are one of the most aggressive and lethal childhood cancers, with only around 20% of patients alive 18 months after diagnosis and hardly any patients surviving five years.

MRT are very under-researched, partly due to their rarity. Despite some reported improvements in survival using radiotherapy in infants, at the present time there is no truly effective therapy; new approaches are urgently needed.

Almost uniquely amongst childhood cancers, MRT appear to have a single underlying cause: mutation of a single gene, known as hSNF5/INI1. In previous work, using MRT cells, Dr Williamson has shown that replacing the mutated gene with a functioning version of hSNF5/INI1 causes the MRT cells to stop dividing and become normal, non-cancerous cells again. It is not possible to replace the mutated gene in a patient but by understanding the knock-on biological effects of the mutation he hopes to find a route to the development of an effective therapy.

About the research team

Dr Daniel Williamson is a lecturer in Paediatric Neuro-Oncology at the Northern Institute for Cancer Research, part of Newcastle University. He is one of the UK’s leading experts in MRT and has a wealth of experience in this kind of genomic research. He is joining forces with Professor Steve Clifford, Professor of Molecular Paediatric Oncology at the NICR, and Professor Simon Bailey, Consultant Paediatric Oncologist at the Great North Children’s Hospital.

What difference will this project make?
Malignant rhabdoid tumour is one of the most aggressive and lethal childhood cancers. The majority of children die from the disease and those who survive suffer serious long-term effects from the aggressive treatment they receive.

Ultimately, Dr Williamson’s research offers the prospect of new, more effective therapies to fight this devastating childhood cancer and save the lives of young patients.

Read more: Treating childhood cancer | Long-term and late effects of treament


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