Principal Investigator: Dr Franck Rapaport
The Rockefeller University, New York, USATags: 47948, appendicitis, genetics/genotyping, immune-disease
Acute appendicitis is the most common source of acute abdominal pain requiring surgery. However, the aetiology of the disease is still mostly elusive a it is a life-threatening infection of the intestinal appendix by common commensal bacteria that are harmless in most individuals. The familial aggregation cannot be explained by environmental or behavioural factors : appendicitis is infectious but not contagious. This suggests that genetic factors are involved.
Our proposal aims at identifying genetic factors conferring susceptibility or resistance to the disease. Since appendicitis is an immune disease, this research will not only help understand the aetiology of appendicitis itself, but also improve our general knowledge of the human immune system.
This project is part of a broader project where we are recruiting families with high incidence of appendicitis to identify rare variants associated with the disease. We do expect to have the first results (which the uk biobank basket would be part of) within the next 36 months.