Who discovered CF?

The first modern description of the disease was made in 1938 by pathologist Dorothy Andersen. Based on autopsies of children who had died of malnutrition, she termed the disease “cystic fibrosis of the pancreas.” It had previously been known as “mucoviscidosis,” referring to the thickening of mucus.

When was CF first discovered?

Cystic fibrosis (CF) was first recognized as a separate disease entity in 1938 when autopsy studies of malnourished infants distinguished a disease of mucus plugging of the glandular ducts, termed “cystic fibrosis of the pancreas,” from others with celiac syndrome (1).

Who first discovered the link between the CFTR and cystic fibrosis?

The breakthrough of the ’80s The CFTR gene itself was discovered in 1989 by a team of researchers led by Dr. Lap-Chee Tsui in Canada. It was, in fact, the first disease-causing gene to be identified in any disease, so this was one of the most significant breakthroughs in human genetics.

How did CF originate?

Cystic fibrosis is the most common genetic disease among people of European descent. It is an autosomal recessive disorder caused by a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. When a child inherits two copies of the mutated gene, the cystic fibrosis disease develops.

How was CF named?

It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The name “cystic fibrosis” refers to the characteristic fibrosis and cysts that form within the pancreas….

What is a common phenotype found only in males with cystic fibrosis?

Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly.

Who is the oldest person with cystic fibrosis?

At 86, Marlene Pryson may be one of the oldest individuals living with cystic fibrosis. During her long life, she has dedicated many years of service to helping CF families as a CF clinic coordinator and family liaison.

Why is CF common in Europe?

Over approximately 1,000 years, a network of small families and/or elite tribes spread their culture from west to east into regions that correspond closely to the present-day European Union, where the highest incidence of CF is found.

Will CF be cured?

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF , which can lead to a longer life.