Rare Disease Day in February is an important time to raise awareness about a club no one asked to join, writes columnist Sam Kirton.
A novel nonsense variant in RTEL1 gene contributes to familial pulmonary fibrosis, emphasizing telomere-related gene mutations in interstitial lung disease. Genetic testing is essential for diagnosing ...
A new study links telomere length genetics to IPF risk, showing how rare variants and polygenic scores may guide future screening and precision care.
Idiopathic pulmonary fibrosis stands as one of medicine’s most challenging respiratory conditions, gradually transforming healthy lung tissue into stiff, scarred material that severely compromises ...