Genetic Diseases or Conditions

Cystic fibrosis (CF) is one of the most common genetic diseases, affecting about 70,000 people throughout the world, with over 1,000 new cases diagnosed each year. This book describes the symptoms of CF including lung disease, digestive problems, pancreatic insufficiency, liver disease, intestinal obstruction, and infertility. It explains how CF is caused by mutations in the CFTR gene encoding a protein ion channel that maintains the balance of salt and water in the lungs and other organs. The book presents CF as an autosomal recessive disease that can arise in families with no prior history of CF. The reader will learn about treatments and therapies for CF, including antibiotics for infections, medicines for improved digestion, respiratory therapy, and pancreatic enzyme replacement. The book describes promising new pharmaceutical discoveries that enable personalized medicine for the treatment of CF. It evaluates the prospects for curing CF through gene therapy and explains how genome editing may be used in the future to correct the CFTR gene mutations underlying CF.