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Major study hopes to uncover genetic keys to bone diseases


Newcastle University is to lead an international, multi-million pound, research project to look at the genetic causes of hundreds of bone diseases, including arthritis and osteoporosis.

The European Commission has awarded over £10m (€12m) to a five year project involving 18 partners across Europe, which hopes to make breakthroughs in the treatment of these diseases, which affect tens of thousands of people in the UK and across Europe.

Named SYBIL, the project is led by Michael Briggs, Professor of Skeletal Genetics at Newcastle University (pictured).

Using cell, fish and mouse model it aims to study the genetic causes of both common and rare skeletal diseases, to understand how the disease develops, age-related changes and to deliver new disease biomarkers and identify targets for treatments. These are likely to involve the use of pluripotent stem cells, cells which can be transformed into any type of human tissue.

Among the diseases that will be investigated are osteoarthritis, the most common form of arthritis, which the World Health Organisation estimates affects 25% of adults aged over 65. The team will also focus on osteoporosis, a disease in which the density of bones is reduced, leading to weakness and increased risk of fractures. It is a major cause of injury, as over a lifetime up to half of all women and a third of all men will suffers an osteoporotic fracture.

Both osteoarthritis and osteoporosis become more common with age and result in a loss of independence with a greatly reduced quality of life and represent a major healthcare burden of increasing scale in Europe as the population continues to age.

"great potential to improve lives"

Professor Briggs said: “This project has great potential to improve the lives of hundreds of thousands of people. If we can identify the genes and study the genetic processes that cause these diseases then we can think about developing treatments which could really help people.”

Another group of diseases which the researchers hope to help treat are Rare Skeletal Diseases. They are an extremely diverse and complex group of diseases that primarily affect the skeleton as it develops at an early age. There are more than 450 unique conditions that range in severity from relatively mild for example Multiple Epiphyseal Dysplasia, which can cause joint pain and stiffness, to severe and lethal forms such as Osteogenesis Imperfecta Type II, which can cause bones to be so brittle that they can break before birth. Although individually rare, about 225,000 people in the EU will suffer from them.

Professor Briggs added: “We will be trying to prove the genetic cause of these diseases and studying disease mechanisms in model systems. Once we have identified those genes and disease processes we can look for biomarkers – substances that can be used as a biological indicator of disease – and then hopefully find mechanisms that we can target as potential therapies.

“SYBIL brings together a group of world-class scientists, systems biologists, disease modellers, information technologists and industrialists that will achieve critical mass to deliver the ambitious objectives of this programme of research.”

Media coverage: The Express (p.1 and 4), The Journal and Northern Echo

published on: 31 October 2013