Researchers in Manchester find genetic key to preventing spine tumors
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 work, doctors did not know that inherited spinal meningiomas have a completely different cause to other tumours affecting the brain and spine.
"The next step is to develop a screening programme to assess the risk of developing spinal tumours for individuals in affected families, and to investigate possible treatments to prevent the spinal tumours from growing."
Professor Richard Marias, Director of Cancer Research UK's Paterson Institute at The University of Manchester, said "This research highlights the complexity of tumour diagnosis. Such detailed molecular characterisation underpins current thoughts about how meningioma and cancer will be managed in the future and is at the heart of the personalised medicine approach."
Just over two people in every 100,000 develop meningiomas in the head and spine, with twice as many women as men diagnosed with the condition.
The team's pioneering work was funded by The Children's Tumor Foundation, a US-based charity supporting neurofibromatosis research, and the Association for International Cancer Research, a global cancer research charity.
Alison Barbuti | EurekAlert!
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.
Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...
Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.
Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...
Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.
As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...
Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.
With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...
Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine
Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...