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Genetic skeletal diseases

Genetic skeletal diseases are difficult to diagnose and there are currently no treatments.

Although these diseases are individually rare, they do affect roughly 225,000 people in the European Union.

Those affected suffer from poor quality of life and high healthcare costs. Early diagnosis is crucial, so that patients can receive vital support and counselling.

University research has had a major influence on establishing the correct diagnosis of these diseases.

Researchers have discovered causative genes and mutations which have led to the subsequent development of accurate and reliable DNA testing protocols.

This has significantly improved the accuracy of, and access to, genetic testing across the globe.

Diagnosis of many genetic skeletal diseases has traditionally relied upon clinical and radiological methods.

Following research by the Manchester team, led by Mike Briggs, a completely new concept in rare disease diagnosis has been introduced.

They have demonstrated that a clinical and molecular diagnosis network could dramatically improve patient access to expert diagnosis for these diseases, as well as increasing mutation detection rates.

Since 2003, the network's electronic system has received over 1,600 referrals from clinicians.

Associated organisations

This electronic system allows clinicians to submit cases from anywhere in the world, giving quick and easy access to expert advice. The system has over 400 active users from 45 countries, improving diagnosis and detection on a global scale.