Discovering gene faults that cause itchy skin
Children affected by primary localised cutaneous amyloidosis (PLCA) suffer the misery of unremitting skin itching and an overwhelming need to scratch. This can lead to extensive skin damage and potential social and psychological problems.
In 2007 Action Medical Research funded Professor John McGrath and his research team, based at King’s College London and the University of Dundee, to investigate the genetic cause of itching. The team made an exciting breakthrough: the discovery of a gene mutation that causes cells to fail to respond to anti-inflammatory signals.
Now, researchers are investigating whether similar processes could cause more common forms of itching, such as eczema. This could form the basis of developing new treatments to help control distressing itching symptoms.
The Action funded research has allowed St John’s institute of Dermatology at Guy’s Hospital in London to become an established diagnostic testing centre for familial skin itching, as well as a clinical referral centre for advice and assessment of people with PLCA.
Being able to diagnose children who are susceptible to PLCA developing in the future has been a useful outcome, too, since it means that skin can be managed from early life, along with coping strategies to reduce children’s suffering.