Following the discovery of nucleic acids by Friedrich Miescher in 1868, DNA and RNA were
recognized as the genetic code containing the necessary information for proper cell …

Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …

More than 2000 variations are described within the CFTR (Cystic Fibrosis Transmembrane
Regulator) gene and related to large clinical issues from cystic fibrosis to mono-organ …

During the past quarter century, the diagnosis and treatment of cystic fibrosis (CF) have
been transformed by molecular sciences that initiated a new era with discovery of the cystic …

Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within
the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical …

The most common genetic hereditary disease affecting Caucasians is cystic fibrosis (CF),
which is caused by autosomal recessive mutations in the CFTR gene. The most serious …

Advances in cystic fibrosis (CF) care have significantly improved the quality of life and life
expectancy of patients. Nutritional therapy based on a high-calorie, high-fat diet, antibiotics …

Background Since patients with cystic fibrosis with different Cystic Fibrosis Transmembrane
Regulator (CFTR) genotypes present a wide response variability for modulator drugs such …

Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF
Transmembrane Conductance Regulator (CFTR) gene harbored on chromosome 7. In …