Research offers new hope for treatment of rare genetic disease

July 28, 2014 by Charlotte Anscombe

New research by experts at The University of Nottingham could offer new clues for the treatment of a rare genetic disease.

TRAPS (TNF Receptor Associated Periodic Syndrome) was first identified in Nottingham more than 30 years ago and causes periodic, spontaneous flares of fever, rashes, muscle pains and other symptoms without any other apparent cause.

The new research, published in The European Journal of Immunology, provides the most complete picture to date of the changes that happen inside the cells of TRAPS patients that trigger the attacks of fever and inflammation that occur in the .

Dr Lucy Fairclough, of the University's School of Life Sciences, was among a team of immunology researchers who led the study. She said: "TRAPS has a serious effect on the lives of its sufferers—imagine having symptoms similar to flu, with those symptoms appearing every few weeks and possibly lasting several weeks, and this happens life-long."

"Fortunately, the research that has led to improved understanding of TRAPS has also led to better therapies for the disease that can greatly improve the quality of life for patients. However, these therapies are treating the consequences of the disease rather than the processes inside cells of the body that are driving the disease.  In the latest study we provide the most complete picture to date of the changes that happen inside the cells of TRAPS patients that trigger the attacks of fever and inflammation.  This opens new avenues for trying to block these disease-causing processes at their source, with the hope of better therapies for TRAPS."

TRAPS was first described in a research article published in The Quarterly Journal of Medicine in 1982 by Williamson and colleagues who worked at Nottingham University Hospitals NHS Trust and the University's Medical School.

At the time, these doctors gave the disease the name 'Familial Hibernian Fever' because all patients were members of the same family originating from Ireland (Hibernia being the Roman name for Ireland).

In the late 1990s, it was found that this is a genetic disease affecting what's called TNF Receptor 1 and the name of the disease was changed to TRAPS in recognition of this fact. It is now known that TRAPS affects thousands of people in many different families around the world.

This latest study, which also involved academics from Mansoura University in Egypt, the German Cancer Research Centre in Heidelberg, Germany, and Nottingham University Hospitals NHS Trust, opens new avenues for trying to block these disease-causing cell changes at their source, with the hope of better therapies for not only for TRAPS but for other diseases of this type.

Explore further: Study shows benefits, limits of therapy for rare inflammatory syndrome

Related Stories

Expelled DNA that traps toxins may backfire in obese

June 18, 2013

(Medical Xpress)—The body's most powerful immune cells may have a radical way of catching their prey that could backfire on people who are overweight and others at risk for cancer, diabetes and chronic inflammation, suggests ...

Recommended for you

Snapshot turns T cell immunology on its head

October 6, 2015

Challenging a universally accepted, longstanding consensus in the field of immunity requires hard evidence. New research from the Australian Research Council Centre of excellence in advanced Molecular imaging has shown the ...

Four gut bacteria decrease asthma risk in infants

September 30, 2015

New research by scientists at UBC and BC Children's Hospital finds that infants can be protected from getting asthma if they acquire four types of gut bacteria by three months of age. More than 300 families from across Canada ...

Flu infection reveals many paths to immune response

September 28, 2015

A new study of influenza infection in an animal model broadens understanding of how the immune system responds to flu virus, showing that the process is more dynamic than usually described, engaging a broader array of biological ...

Immune cells may help fight against obesity

September 15, 2015

While a healthy lifestyle and "good genes" are known to help prevent obesity, new research published on September 15 in Immunity indicates that certain aspects of the immune system may also play an important role. In the ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.