A TYNEDALE woman now finally knows the cause of her liver failure after scientists identified a rare new disease in a ground-breaking discovery.

After Linda Turnbull, who is in her 60's and lives in Stocksfield, began vomiting blood when she was just a child, tests diagnosed her with liver failure.

She was treated successfully, but gradually her liver failed completely and she had a liver transplant in 1994.

The barrister is now leading a full and active life since she received her new organ almost 30 years ago.

Linda has also been a strong advocate for liver patients and helped set up Liver North, a national liver patient support group, where she remains a governor for this charity.

She never knew what caused her to be ill, but a study by experts at Newcastle University has now Linidentified Linda as one of the 15 patients identified as having a disease named TULP3-related ciliopathy.

The inherited condition causes kidney and liver failure in children and adults.

Research, published in the American Journal of Human Genetics, has revealed that a faulty gene is the catalyst for increased fibrosis in the liver and kidney, often resulting in the need for a transplant.

Linda said: "It is brilliant to finally have an answer to my life-long questions: Why has this happened to me and why do I have this condition?

“It’s fantastic that this research has been led in Newcastle and it means that people in the future will have information regarding their condition and how best to treat it.”

Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle University and a consultant nephrologist at Newcastle upon Tyne Hospitals NHS Foundation Trust, said: “Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients.

“What we are now able to do is give some patients a precise diagnosis, which allows their treatment to be tailored to their needs for the best possible outcome.”

He added: "We were surprised at how many patients we were able to identify with TULP3-related ciliopathy and this would suggest that the condition is prevalent within those with liver and kidney failure.

“We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney or liver failure to get to the bottom of the condition.

“Finding a genetic cause of liver or kidney failure has huge implications for other family members, especially if they are wishing to donate a kidney to the patient.”

The work, co-funded by Kidney Research UK and the Northern Counties Kidney Research Fund, was possible through the Genomics England 100,000 Genomes project.

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