Research carried out in Sheffield has uncovered a new way to identify brittle bone disease.
Most patients with brittle bone disease, or osteogenesis imperfecta (OI), are diagnosed after sustaining fractures - but it can be difficult to diagnose the condition in those who do not suffer broken bones.
A total of 15 patients took part in the research led by Dr Meena Balasubramanian, consultant clinical geneticist at Sheffield Children’s NHS Foundation Trust.
Dr Balasubramanian carried out detailed clinical exams, X-rays, skin biopsies and genetic testing and was able to identify a genetic cause of the condition in eight of the 15 patients.
Dr Balasubramanian said: “We were able to determine the genetic cause for their brittle bones in over half of the patients. This study helped us understand why some patients present with fractures, while others do not.”
The results will help provide families with a diagnosis for their child, explore the genetic cause and provide them with the option of prenatal testing with accurate information regarding the recurrence risks.
The Children’s Hospital Charity supported the research with a grant of £24,677.
David Vernon-Edwards, director of the charity, said: “This is just one of the many research projects funded by our charity that are making a tangible difference to the diagnosis, prevention and treatment of childhood illnesses.”