Genetic medicine experts from Manchester Biomedical Research Centre at Saint Mary's Hospital and The University of Manchester have identified a new gene responsible for causing an inherited form of tumour, known as spinal meningioma. Professor Richard Marias, Director of the Paterson Institute
Meningiomas are the commonest form of tumour affecting the brain and spine. Usually meningiomas can be removed by surgery and do not recur. Occasionally people can develop more than one meningioma or many members of the same family can be affected.
A team led by Dr Miriam Smith, Professor Gareth Evans and Dr Bill Newman worked with families with a history of meningiomas affecting the spinal cord. Using a powerful new genetic sequencing technique called next generation sequencing, they were able to check all the genes of three individuals with multiple spinal meningiomas. This lead to the identification that changes in a gene called SMARCE1 lead to spinal meningiomas in some families.
In December 2012 the government announced a focus on genetic sequencing with an aim of sequencing the genomes (a person's DNA) of 100,000 Britons with cancer and rare diseases in UK centres. The voluntary sequencing of patients will lead to better testing, better drugs and above all better care for patients. Manchester is already using this technology in their well established Genetics department at Saint Mary's and it is enabling doctors to ensure patients have access to the right drugs and personalised care quicker than ever before.
In the past year 10 genes have been discovered using the new next generation sequencing technology in Manchester including genes for developmental problems, deafness, short stature and bladder problems that lead to kidney failure.
"With our new DNA sequencing machines, we have been able to show that changes in the SMARCE1 gene are responsible for multiple spinal meningioma disease," said Dr Smith. "Before our wor
|Contact: Alison Barbuti|
University of Manchester