Wednesday, July 25, 2018

Moving forward with cystic fibrosis

Genes aren’t always destiny. In recent years, doctors and scientists have made remarkable progress against cystic fibrosis, a fatal recessive genetic disorder that has remained common through the centuries.  Just a couple of generations ago patients with cystic fibrosis had little hope reaching adulthood. Thanks to improvement in treatment and management, people with the disease are starting families and reaching middle age and beyond. The ongoing revolution in gene based therapies buy patients even more time and give them hope and purpose.

1 in 30 people in the U.S. is a carrier of the CFTR gene that causes cystic fibrosis. If both are carriers,  there’s a 1 in 4 chance that their child will be born with this disease. The severity of the disease can vary by the type of mutation that’s inherited as well as other genetic and environmental factors. I did not know that 1 in 30 people are carriers of the CFTR gene. I also think scientists have made great strides in helping people living with the disease improve there longevity and overall lifestyle.

Illustration of the effects of cystic fibrosis, with thick, sticky mucus blocking airways in the lung and ducts in the pancreas. The illustration also shows the position of the CFTR gene on chromosome 7.

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