ReferenceRRK3684

Research Study into the genetic causes of PSC

A UK Collaborative Study to Determine the Genetic Basis of Primary Sclerosing Cholangitis (UK-PSC)

Research Summary

PSC is a condition in which the bile ducts of the liver become inflammed & destroyed. Patients with this condition may be either symptomatic or asymptomatice on presentation. Symptoms of the disease include itch jaundice and fatigue. With the progression of liver disease & the development of cirrhosis (scarring of the liver) patients may suffer complications & ultimately require a liver transplant. In addition patients with this condition are predisposed to develop cancer of either the bile ducts gallbladder pancreas & the colon.There is epidemiological data to suggest that genetic factors are important in the development of PSC. PSC is more common in people that have a close relative with the condition.We propose that by peforming a genome association scan from a cohort of patients with PSC we will potentially identify new genetic determinants that contribute to this disease which may lead to better treatments & animal models of PSC.

Research Overview
Sponsor Cambridge University Hospitals NHS Foundation Trust
Project Status Open
Proposed End Date 01/07/2023
Study Run through CRF? No
Recruitment so far 38