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Genetic Research for IPF

Dr. Helen Parfrey explores the genetic underpinnings of Idiopathic Pulmonary Fibrosis (IPF), revealing that up to 20% of affected individuals have familial ties, with autosomal dominant inheritance patterns observed. Mutations in surfactant proteins A and C, as well as telomerase, have been identified, though many genes linked to pulmonary fibrosis remain elusive. This research aims to discover novel genes, enhance disease understanding, and create new treatments. Families with a history of pulmonary fibrosis are sought for DNA samples using exome sequencing to facilitate rapid screening for gene mutations.

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Genetic Research for IPF

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  1. Genetic Research for IPF Dr Helen Parfrey

  2. 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

  3. Majority of genes associated with pulmonary fibrosis remain unknown Familial Pulmonary Fibrosis Sporadic Pulmonary Fibrosis

  4. 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

  5. We need families with pulmonary fibrosis

  6. 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

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