Precision diagnosis and care for families with pulmonary fibrosis in Ireland

diopathic-Pulmonary-Fibrosis (IPF) is a devastating fatal lung disease leading to death at an average of 3 years after diagnosis and while new drugs offer hope of slowing the disease, lung transplant is the only effective cure. Genetic factors contribute significantly to the risk of developing IPF. In Ireland our results from the IPF National Registry suggests that 17% of cases cluster in families called familial-pulmonary-fibrosis, one of the highest rates of any country in the world. Familial-pulmonary-fibrosis has a worse prognosis than non-familial-IPF, responds poorly to current treatments and some patients can have serious reactions to immunosuppression medications after lung transplantation.

Currently, in Ireland there is no pathway of diagnosis for patients with familial-pulmonaryfibrosis, no information on what type of errors or mutations in genes that are found and no information on how patients with familial-pulmonary-fibrosis differ from patients with non-familial-IPF in terms of progression of symptoms or how long they live.

Gene mutations can damage cells in the lung where air exchange occurs, leading to scaring of the lungs that characterises familial-pulmonary-fibrosis.

Stem cells generated from patients with familial-pulmonary-fibrosis can be used to make or model the patient’s lung cells in a dish. We hope that by making this model for patients in Ireland we can understand how their disease is caused and personalise treatment for individual patients. We believe that we can improve the quality and safety of care for patients with pulmonary fibrosis in Ireland by getting genetic testing and counseling for those with a strong family history of fibrosis, closely following them with CT scans and breathing tests and modelling their lung disease in a dish.

We envision that patients and families with familial-pulmonary-fibrosis will be able to attend a special clinic to better understand their disease and receive specific treatments and advice.

We aim to create a referral and diagnostic pathway for patients with familial-pulmonary-fibrosis which combined with precision physiological, radiological and personalised stem cell models can improve diagnosis and prognostication and reduce clinical risk to patients and their families.

Specifically, we aim to:

  1. Precisely genotype and phenotype patients with a family history of IPF employing a national referral network.
  2. Continually monitor patients using spirometry and deep learning analysis of follow-up radiology in a prospective observational cohort-study.
  3. Model clinical outcomes for patients by combining a patient-derived induced pluirpotent stem cell model of lung disease with radiological and physiological data.
Award Date
14 February 2020
Award Value
Principal Investigator
Dr Killian Hurley
Host Institution
Royal College of Surgeons in Ireland
Emerging Clinician Scientist Awards 2020