Medical research

Cockayne syndrome: New insights into cellular DNA repair mechanism

Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; growth failure; neurological, ...

Genetics

Researchers discover cause of rare congenital lung malformations

Most rare diseases are congenital—including CPAM (congenital pulmonary airway malformations). These are airway malformations of the lungs that can lead to severe breathing problems in some affected newborns and can be associated ...

Diseases, Conditions, Syndromes

Cystic fibrosis: Why infections persist despite therapy

Cystic fibrosis is a genetic disease that causes serious and sometimes fatal respiratory and digestive disorders. A new treatment, available since 2020, improves lung function and quality of life. However, it does not always ...

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