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Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Before it began using the current name, the organization was known as the "National Cystic Fibrosis Research Foundation". [6] In 1989, scientists working for the Cystic Fibrosis Foundation discovered the gene that causes cystic fibrosis, considered the key to developing a cure for cystic fibrosis.
Johanna Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF). She later discovered the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that causes pancreatic and hematologic problems. [1]
"I Googled it and discovered, at that time, the life expectancy for someone with cystic fibrosis was early thirties... and I remember feeling really shocked by that," said Sophie. ... "When cystic ...
Paul di Sant'Agnese (1914–2005) was the founder of the Cystic Fibrosis Foundation and of Cystic Fibrosis Care in the United States. [citation needed] He was a physician, researcher and one of the first clinicians who devoted his life to understanding and conquering cystic fibrosis through his work at the Columbia University Medical Center, New York City.
Judah, a 14-year-old boy who was diagnosed with cystic fibrosis at just two weeks old was granted a wish by the Make-A-Wish Foundation to meet and record music with Jason Derulo
Cystic fibrosis: More than 1,800 mutations in the CFTR gene have been found [71] but the majority of these have not been associated with cystic fibrosis. [72] Most of these mutations either substitute one amino acid (a building block of proteins) for another amino acid in the CFTR protein or delete a small amount of DNA in the CFTR gene. The ...