Embryo Project Encyclopedia Articles

Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene. There are an estimated 30,000 reported cystic fibrosis cases in the US, and 70,000 reported cases worldwide, although the international number is undoubtedly low due to underreporting or early deaths.

Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. Tsui's research also outlined the mechanisms for the development of cystic fibrosis, which were previously unknown.