Each year in December, the British Thoracic Society hold an annual meeting to update respiratory physicians and scientists on the latest news and developments in research and treatment of lung disease.
DC Action was delighted to see that Professor Christine Garcia from The University of Texas Southwestern Medical Centre in Dallas was invited to speak at the 2016 meeting about her research into the association between mutations in telomere genes and familial pulmonary fibrosis.
Idiopathic Pulmonary Fibrosis (IPF) occurs in adulthood causing in scarring and thickening of the of the lung tissue leading to rapid loss of lung function. ‘Idiopathic’ is a medical term used to describe a disease with a unknown cause but by looking at extended families or ‘kindreds’ with IPF and scarred lungs, Professor Garcia’s research has shown that mutations in telomere genes are frequently found in the familial form of this disease. These patients and families have a ‘telomeropathy’ characterised by short telomere lengths.
Research suggests that about 50,000 people in the United States develop idiopathic pulmonary fibrosis each year. Approximately one in 20 people have a close relative with the disease, in which case they are considered to have familial pulmonary fibrosis.