Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Researchers from Sorbonne University and Hôpital ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis ...

Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

It is well known that mutations in the cystic fibrosis transmembrane regulator (CFTR) gene are causative of cystic fibrosis, a lethal autosomal recessive Mendelian disorder. Several studies have also ...

Please provide your email address to receive an email when new articles are posted on . Cystic fibrosis screening varies widely from state to state. Testing for only a small number of gene variants ...

Share on Facebook. Opens in a new tab or window Share on Bluesky. Opens in a new tab or window Share on X. Opens in a new tab or window Share on LinkedIn. Opens in a new tab or window SAN DIEGO -- In ...

This video excerpt from NOVA examines the promise and realities of developing drugs designed to treat genetic disorders. The video presents the story of one patient, Michael McCarrick, whose lungs ...