Know your inherited lung disorder risk before symptoms appear

Cystic fibrosis & airway clearance

Genes behind cystic fibrosis and CF-like conditions that cause thick mucus buildup in the lungs and airways.

Primary ciliary dyskinesia

Genes needed for tiny hair-like cilia that sweep mucus out of the lungs. Defects cause chronic infections, bronchiectasis, and sometimes reversed organ placement.

Pulmonary fibrosis & scarring

Genes linked to inherited pulmonary fibrosis, where lung tissue progressively scars. Telomere-related genes are the most common cause of familial pulmonary fibrosis.

Surfactant & newborn lung disease

Genes essential for surfactant, the coating that keeps air sacs open. Defects can cause severe breathing problems in newborns or interstitial lung disease later in life.

Pulmonary hypertension

Genes that cause dangerously high blood pressure in the lung arteries. BMPR2 is the most commonly inherited cause of pulmonary arterial hypertension.

Alpha-1 antitrypsin & emphysema

Genes that protect lung tissue from breakdown. Alpha-1 antitrypsin deficiency is one of the most common inherited causes of early emphysema and COPD.

Lung cysts & tumor risk

Genes linked to lung cysts, nodules, or deposits that may increase pneumothorax (collapsed lung) or tumor risk.

Hermansky-Pudlak syndrome

Genes behind Hermansky-Pudlak syndrome, a rare condition causing lung fibrosis, easy bruising, and light skin/eye color.

Breathing control & nerve signaling

Genes controlling the brain signals that tell you to breathe. PHOX2B changes cause congenital central hypoventilation ("Ondine's curse"), where automatic breathing fails during sleep.