July 24, 2012
Rare disease breakthrough as
scientists make vasculitis discovery
Scientists we fund at the University of Cambridge
have shed new light on a rare but deadly disease of the circulatory
The researchers looked at the genes of people disagnosed with
ANCA-associated vasculitis, which affects almost
9,000 people in the UK. Patients' blood vessels are attacked by
their own white blood cells, a problem which can affect any organ
but in particular the kidneys, lungs and airways.
The only treatment is immunosuppressive drugs, which
counteract the immune cells responsible for our body’s
natural defences but can cause serious side effects.
Better treatments are needed.
The researchers tracked down more than 1,200 UK patients
diagnosed with ANCA-associated vasculitis and a further 1,400 with
the condition from Europe. Using cutting-edge genetic
analysis, they showed that patients actually fall
into two distinct groups, depending on the genetic variants they
Shedding new light on this devastating, often fatal, disease could point towards new strategies for managing the condition in the future
This discovery is
important because it could pave the way for separate
in the future for each group.
Professor Ken Smith, Professor of Medicine at
the Cambridge Institute of Medical Research (CIMR) at the
University of Cambridge, one of the leaders of the study, said:
“Our study demonstrates for the first time that ANCA-associated
vasculitis is not really one condition, but two diseases
with different causes hiding under one umbrella. Our key
finding is that an important difference between the two groups is
in the genes, and not only in the symptoms we can see.
“We can tell which group a patient belongs to
with a simple blood test, so we hope our discovery
helps lead to new treatments that target each group."
Our Research Advisor Dr Hélène Wilson said:
“ANCA-associated vasculitis is one of several rare diseases
affecting the circulation. Although well known to doctors, the
genetic cause was unclear until
“Current treatments that suppress the immune
system do work, but they are not ideal and can cause problems. By
shedding new light on this devastating, often fatal, disease, this
breakthrough could point towards new strategies for
managing the condition in the future. It also underlines
the importance of genetic studies in coming up with better
diagnoses and treatments for diseases.”
The study was published in the New England Journal of Medicine. It was
also funded by the National Institute for Health Research
(NIHR) Cambridge Biomedical Research Centre and supported by the