cystic fibrosis
)
Hereditary disease involving defects of various tissues, including the sweat glands, the mucous glands of the bronchi (air passages), and the pancreas. The sufferer experiences repeated chest infections and digestive disorders and generally fails to thrive. In 1989 a gene for cystic fibrosis was identified by teams of researchers in Michigan, USA, and Toronto, Canada. This discovery enabled the development of a screening test for carriers; the disease can also be detected in the unborn child.
Inheriting the disease
Among people of European descent, one person in 22 is a carrier of the disease. If two carriers have children, each child has a one-in-four chance of having the disease, so that it occurs in about one in 2,000 pregnancies. Around 10% of newborns with cystic fibrosis develop an intestinal blockage (meconium ileus) which requires surgery. It is the commonest fatal hereditary disease amongst white people.Treatment
Cystic fibrosis was once universally fatal at an early age; now, although there is no definitive cure, treatments have raised both the quality and expectancy of life. In 2007, the life expectancy stood at 31 years. Results in 1995 from a four-year US study showed that the painkiller ibuprofen, available over the counter, slowed lung deterioration in children by almost 90% when taken in large doses.Management of cystic fibrosis is by diet and drugs, physiotherapy to keep the chest clear, and use of antibiotics to combat infection and minimize damage to the lungs. Some sufferers have benefited from heart-lung transplants.
Gene therapy
In 1993, UK researchers (at the Imperial Cancer Research Fund, Oxford, and the Wellcome Trust, Cambridge) successfully introduced a corrective version of the gene for cystic fibrosis into the lungs of mice with induced cystic fibrosis, restoring normal function. Trials in human subjects began in 1993, and the cystic fibrosis defect in the nasal cavities of three patients in the USA was successfully corrected, though a later trial was halted after a patient became ill following a dose of the genetically altered virus. Patients treated by gene therapy administered in the form of a nasal spray showed signs of improvement following a preliminary trial in 1996.In 1997, US researchers successfully cured mice with cystic fibrosis by administering gene therapy in utero. The fetus breathes in the corrective gene attached to an adenovirus and it becomes incorporated in the developing cells. All the mice were born healthy and survived to old age. Cystic fibrosis is seen as a promising test case for gene therapy.
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