Idiopathic pulmonary fibrosis is a severe lung disease with unknown aetiology. The lifespan is approximately 3 to 5 years after diagnosis, and the treatments available such as lung transplant are high risk and are not suitable for all patients. In ...

Introduction and aims: Although individually, Mendelian disorders are considered rare, collectively they make up a large group of individuals requiring diagnosis and treatment. Because of their individual rarity, many of these disorders are understudied ...