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Genetic Research for IPF. Dr Helen Parfrey. Genetics and IPF. Up to 20% of individuals with IPF have an affected family member Autosomal dominant inheritance Mutations identified in surfactant proteins (A and C) and telomerase.
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Genetic Research for IPF Dr Helen Parfrey
Genetics and IPF • Up to 20% of individuals with IPF have an affected family member • Autosomal dominant inheritance • Mutations identified in surfactant proteins (A and C) and telomerase
Majority of genes associated with pulmonary fibrosis remain unknown Familial Pulmonary Fibrosis Sporadic Pulmonary Fibrosis
Why study genes for IPF? • May help to identify novel genes associated with pulmonary fibrosis • Improve understanding of the disease mechanisms in IPF • Lead to development new treatments • Able to diagnose disease earlier in high-risk individuals • Predict how lung disease will change over time • Guide treatment
What is needed for this research project? • Obtain DNA from blood sample or lung tissue • Use new genetic technology called EXOME SEQUENCING • Screen for known and novel gene mutations • Design rapid screening test for the gene mutations identified • Screen for these genes in individuals with sporadic IPF • Funding for the work