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New research announced recently could lead to the early diagnosis and treatment of chronic, debilitating conditions such as ‘brittle bone’ and osteoporosis, and help improve the lives of tens of thousands of sufferers in the UK alone. It could enable doctors to identify the bone diseases without having to use invasive diagnostic methods, or exposing patients to radiation associated with the usual X-ray techniques.

This research has, for the first time, enabled detection of a genetic ‘brittle bone’ disease known as Osteogenesis Imperfecta (OI) by simply scanning a patient’s limbs. Until now, bone diseases have been diagnosed through X-rays, history of fractures and other clinical symptoms and, in the case of OI, genetic testing.

The researchers, from UCL (University College London), the Science and Technology Facilities Council (STFC) and the Royal National Orthopaedic Hospital (RNOH) used a technique known as Spatially Offset Raman Spectroscopy (SORS) to test for the condition. The technique involves shining a laser through the skin to analyse the underlying chemistry of the bone, and can reveal differences between healthy and diseased bone. The general SORS concept was developed at the STFC Central Laser Facility, based at the Research Complex at Harwell, Oxfordshire.

To obtain a set of control data, the research team carried out tests on a small bone sample taken from a 26 year old female patient with type IV OI. This is a moderate form of the disease that affects growth and can cause bone deformity and spinal curvature.

Using conventional Raman spectroscopy, the team probed the bone and compared it to a non-diseased bone sample, establishing a notable chemical difference in its make-up.

The patient’s body was then scanned extensively and non-invasively, using a laser in a custom-built SORS instrument developed by Cobalt Light Systems. For comparison, a second set of scans were carried out on a healthy female volunteer of a similar age, who does not have the disease.

“Bone is a complex material that has both mineral and protein components,” said Dr Kevin Buckley from STFC’s Central Laser Facility, one of the team working on this project. “Traditional X-ray methods that are used to study bone can only see the mineral but this technique can see both components”

The OI patient’s bone sample was found to be significantly more mineralised than the non-diseased sample, and was therefore structurally brittle.

“The results confirm that SORS can detect abnormalities in the bone composition”, added Dr. Buckley. “Osteogenesis Imperfecta is relatively rare, but the hope is that the technology will now allow the early detection of other bone diseases. That would be a step forward because earlier detection would mean earlier treatment and enhanced quality of life”

Professor Allen Goodship from UCL’s Institute of Orthopaedics and Musculoskeletal Science led the research. He said, “The SORS technique represents an improvement on X-ray methods as it can extract more information on the precise chemical make-up safely. I can envisage this developing into a routine tool that your local surgery can use when you go for your annual check-up, enabling early detection of conditions, early prescription and monitoring of medication, and will allow doctors to advise patients on lifestyle changes that could slow the progress of the disease further. With regular screening, SORS can monitor the effects directly”

Osteoarthritis and osteoporosis are on the increase in countries with aging populations. In the UK alone there are more than 70,000 hip fractures associated with osteoporosis and a further 70,000 primary hip replacements associated with osteoarthritis annually.

“Presently, the range of clinical tools for early detection of these diseases is limited”, said UCL’s Dr Jemma Kerns, a researcher and clinical study manager for the project. “In the case of osteoporosis, people at higher risk of a fracture are identified using an association with bone density. However, the successful diagnosis of fracture risk in an individual is currently quite low. The SORS method could improve that rate and pave the way for studies of other bone diseases that have a large societal and economic impact.”

The research was funded by a £1.7M grant from the Engineering and Physical Sciences Research Council, with facility time and other support coming from the Science and Technology Facilities Council. Control bone samples were provided by the Vesalius Clinical Training Centre, Bristol.

More information

Marion O’Sullivan 
STFC Press Office
Tel: 01793 445627
Mob: 07824 888990

Harry Dayantis 
UCL Press Office
Tel: 020 3108 3844
Mob: 07747 565056

Kelly Mortlock 
RNOH Communications
Tel: 020 7478 7802

Notes to editors:

1. The research paper Measurement of Abnormal Bone Composition in Vivo using Non-invasive Raman Spectroscopy is published in Nature publication BoneKEy.
    
2. The Royal National Orthopaedic Hospital is the largest specialist orthopaedic hospital in the UK, and a recognised world leader in the field of orthopaedics. It treats more than 100,000 neuro-musculoskeletal patients a year for conditions ranging from acute spinal injuries to chronic back pain. The century-old RNOH is planning a £90 million redevelopment of its site in Stanmore, Middlesex, and has launched a £15 million appeal to fund vital additional facilities and equipment for the new hospital. Further information can be found at:
    
   • Royal National Orthopaedic Hospital
   • Royal National Orthopaedic Hospital Appeal
      
3. UCL (University College London) 
   Founded in 1826, UCL was the first English university established after Oxford and Cambridge, the first to admit students regardless of race, class, religion or gender, and the first to provide systematic teaching of law, architecture and medicine. We are among the world's top universities, as reflected by performance in a range of international rankings and tables. UCL currently has almost 29,000 students from 150 countries and in the region of 10,000 employees. Our annual income is more than £900 million. Follow us on Twitter @uclnews; Watch our YouTube channel YouTube.com/UCLTV
    
4. The STFC Central Laser Facility (CLF) is a partnership between its staff and the large number of members of UK and European universities who use the specialised laser equipment provided to carry out a broad range of experiments in physics, chemistry and biology. The CLF’s wide ranging applications include experiments in physics, chemistry and biology, accelerating subatomic particles to high energies, probing chemical reactions on the shortest timescales and studying biochemical and biophysical process critical to life itself.
    
5. COBALT Light Systems was established in 2008 to develop its novel technologies into a range of Raman applications for laboratory and industrial analysis. The underlying technology is exclusive to the company and was invented at the Science and Technology Facilities Council’s Rutherford Appleton Laboratory. The company recently won the 2014 MacRobert Award for engineering innovation, for its unique liquids scanner.
    
6. The Vesalius Clinical Training Centre, Bristol, is a centre and philosophy for exciting and stimulating learning that shares and develops knowledge and skills related to clinically relevant anatomy in the advancement of clinical practice. Our dedicated and professional team is committed to the highest standards in the development of this world-class facility and life-long learning partnerships for ongoing professional development.
    
7. The Engineering and Physical Sciences Research Council (EPSRC) is the UK’s main agency for funding research in engineering and the physical sciences. EPSRC invests around £800 million a year in research and postgraduate training, to help the nation handle the next generation of technological change. The areas covered range from information technology to structural engineering, and mathematics to materials science. This research forms the basis for future economic development in the UK and improvements for everyone’s health, lifestyle and culture. EPSRC works alongside other Research Councils with responsibility for other areas of research. The Research Councils work collectively on issues of common concern via Research Councils UK.