Pathobiology of Rare Lung Diseases

Prior to being appointed in 2018 as Associate Professor of Medicine in UCD and Consultant Respiratory Physician at St. Vincent's Hospital Group Associate Professor of Medicine in UCD, Cormac McCarthy was the Rare Lung Disease Scholar at the Rare Lung Disease Consortium in the United States, based in Cincinnati, Ohio. He is a graduate of the Royal College of Surgeons in Ireland (RCSI), obtaining an Honours degree in Medicine in 2007. He completed higher specialist training through the Royal College of Physician of Ireland (RCPI) and was awarded a Certificate of Satisfactory Completion of Specialist Training by the Irish Committee on Higher Specialist Training (Respiratory and General Internal Medicine) in 2017. He continued post-graduate training at the University of Cincinnati Medical Center and Cincinnati Children’s Hospital, where he completed an ACGME-accredited Clinical Fellowship in Genetic Pulmonary Disease, and he continued his training there as a Rare Lung Disease Scholar where he conducted research, resulting in many high impact publications. His primary research areas were on the molecular mechanisms of lung disease, utilizing pathogenesis approach to develop new therapies. He continues to have a strong interest in all lung diseases, with a particular focus on interstitial lung disease, rare lung disease, cystic lung disease syndromes and obstructive airway disorders. Dr. Francesco Bonella holds both an MD and PhD. He is Assistant Professor in the Unit for Interstitial and Rare Lung Disease at the Ruhrlandklinik/University Hospital at the University of Essen in Essen, Germany. His research and clinical expertise are on biomarkers and genetics of rare pulmonary diseases, including ILD and sarcoidosis.

Part 1. Genetic Causes of Lung Disease
1. Genetics of Fibrotic Lung Disease
2. Multigene Familial ILD
3. Monogenic

Part 2. Disorders of Surfactant Homeostasis
1. Primary pulmonary alveolar proteinosis
2. Secondary pulmonary alveolar proteinosis
3. Disorders of surfactant production

Part 3. Childhood Interstitial Lung Diseases
1. Alveolar capillary dysplasias
2. Pulmonary interstitial glycogenosis
3. Neuroendocrine hyperplasia of infancy
4. Lung growth abnormalities

Part 4. Disorders Associated with Autoimmunity and Inflammation
1. Rheumatoid arthritis associated lung disease
2. Systemic sclerosis associated lung disease
3. Myositis associated disorders
4. IgG4-related Lung Disease
5. Anti-glomerular basement disease
6. Pulmonary manifestations of vasculitis
7. Pulmonary amyloidosis
8. Cryptogenic organizing pneumonia
9. Hypersensitivity pneumonitis
10. Sarcoidosis

Part 5. Neoplastic Disorders
1. Lymphangioleiomyomatosis
2. Pulmonary Langerhans cell histiocytosis
3. Diffuse idiopathic pulmonary neuroendocrine hyperplasia (DPNECH)

Part 6. Smoking-associated ILD
1. Desquamative interstitial pneumonia
2. Respiratory-bronchiolitis ILD
3. Combined pulmonary fibrosis and emphysema

Part 7. Pulmonary Complications of Rare Diseases
1. Primary immunodeficiencies
2. Sickle cell disease
3. Congenital diaphragmatic hernia
4. Lymphatic anomalies
5. Yellow nail syndrome
6. Pulmonary arterial hypertension