Grant: Operating Grant - PA: Regional Partnership Program - Newfoundland and Labrador

Background: Idiopathic Pulmonary Fibrosis (IPF) is an adult-onset lung disease. In Canada, about 20,000 individuals are affected by IPF and its prevalence is expected to double in the next 20 years. The same number of individuals die from IPF each year as from breast cancer. The only treatment that improves survival is lung transplant. Without treatment, mean survival ranges from 2 to 4 years. Sporadic and familial (FPF) forms of IPF have been recognized. Preliminary Data: Over the past five years, we have generated much preliminary data regarding FPF. Thus far, we have recruited 43 affected sporadic patients and 63 patients belonging to 17 FPF families, and performed genetic analyses to rule out the known causative genes. We have estimated the prevalence of IPF in Newfoundland is over 20 times that reported in other northern European derived populations. Objective: The goals are (1) to identify mutations in novel genes that cause FPF; (2) to offer the families participating in the study important genetic information in order to provide better clinical management. Research Plan: In order to identify novel genes causing FPF we will: (1) continue to recruit additional families to obtain a large population-based cohort of IPF patients that can be used to identify novel genes and to validate these discoveries; (2) to sequence the DNA in families using a state-of-the-art technology, called next generation sequencing, in order to identify gene mutations. Relevance: Although the familial form of PF is relatively rare, identifying gene(s) that are mutated in these families will improve our understanding of the biologic pathways that are altered in patients with the more common sporadic form of IPF, eventually leading to improved therapeutic management. Gene discovery could potentially reduce the cost to the health care system, because of reduced clinical screening, since we will be able to identify individuals who are at-risk of developing the disease.