Genetic Variation AND Altered Leucocyte Function in health and disease (GANDALF): Investigating the mechanisms of autoimmune disease
Professor Ken Smith
Institution or company
University of Cambridge
Genomics and Rare Diseases, Infection
ANCA (anti-neutrophil cytoplasmic antibody) associated vasculitis (AAV) is a rare disease which causes the body’s white blood cells to attack the body rather than the germs that they would normally attack. This leads to swelling and damage in the blood vessels and other organs in the body. AAV can affect many parts of the body including the kidneys, skin, lungs, nerves and eyes. The underlying cause of AAV remains unclear and the treatments for this condition, whilst effective, are associated with significant side effects including long-term risk of infection and cancer.
Our lab has performed a genome-wide association study (GWAS) – which allows us to study the variations in DNA sequence between vasculitis patients and healthy subjects. We have identified a number of genetic variations that are associated with the disease and we aim to unravel how these genetic variants contribute to the development of the disease. By having a better understanding of how this disease occurs, we will be able to create better tests to speed up diagnosis in patients with suspected vasculitis and aid the design of newer medications or therapies with fewer side effects to fight this disease.
Participation: For this study we recruited 16 participants from the Cambridge BioResource to give a 100ml blood sample.