Genetic mutations in the CFTR protein gene cause Cystic Fibrosis. For disease occurrence, individuals have to inherit two defective genes of CFTR from each parent. CFTR mutations are distributed into six classes. Though CF affects all ethnic as well as racial groups, but in Caucasians of North European origin, it is more common. The clinical representations of CF include raised NaCl cons. in sweat glands, deficiency of pancreatic enzymes, azoospermia in adult males, and decline in lung function which leads to pulmonary exacerbations. The therapies for CF are gene therapy, CFTR modulators, potentiators, correctors, and stop codon suppressors. The incidence of CF in Pakistan is low as it is more common in Caucasians. Due to lack of suitable diagnostic tools, this disease is often neglected in Pakistani population.