Competition Catalyst Grant 2016

Application Metrics:  2/6 Applications Funded

Principal Investigator:  Dr. William T. Gibson

Institution:  University of British Columbia

Project Title:  Role of Topoisomerase Genes in Childhood-Onset SLE

Funding Received:  $31,000 Awarded

Project Lay Summary:  We are looking for rare mutations that are strong genetic risk factors for lupus in children. In a South Asian family with closely-related parents, we have found a rare mutation in a DNA repair protein called TOP1MT. We have also found two more rare genetic variants in TOP1MT in a group of nearly 50 children with lupus that started in childhood. Thus, we believe we have found a new “lupus gene,” and are seeking funds to prove what we think to be true – that rare mutations in TOP1MT cause childhood-onset lupus and may cause adult-onset lupus as well. If we are right, we will have a new angle on how to diagnose and treat some cases of lupus.