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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
We need families with pulmonary fibrosis
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