http://news.recombine.

com/2016/05/17/brief-history-cystic-fibrosis/
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
0

BY SHANNON WIELOCH ON MAY 17, 2016DISEASE AWARENESS

In the genetics world, cystic fibrosis (CF) is one of the better-known

inherited conditions. It’s relatively common (at least in the European
population) and it has its own well-established foundation, representing
approximately 30,000 people with CF in the United States. To add a
touch of glam to the story, it is speculated that Frédéric Chopin was
affected with CF.
Rumor has it that CF appeared about 3,000 BC. Though European folklore
and literature from the 18th century warned, “Woe to the child who tastes
salty from a kiss on the brow, for he is cursed and soon must die,” the
condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection

between the clinical features of the pancreas, lung, and intestinal disease
prominent in CF. (You go girl!) She was also the first to propose that CF was
a recessive disease and the first to use pancreatic enzyme replacement to treat
affected children. In 1988, the first mutation for CF was discovered, and
subsequent research has found over 1,000 different mutations that cause CF.
Needless to say, a lot has happened since CF was first identified, and a lot
continues to happen.
On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The
purpose of this group is to raise awareness about CF, advance policies, and
support research for this condition.
The field of medicine continues to make great advances against CF, with
strides on the screening, pharmaceutical,surgical and personalized
medicine fronts. Yet, as expected, medical breakthroughs can also be hugely
expensive. Though millions of dollars have been raised, much more is
needed. And necessity is the mother of invention (and humor) as parents have
turned to innovative ways to raise funds for research. On such concept:
the Fancy Physician Pageant.
The internet is full of heartwarming stories of the everyday lives of the
patients and families affected by CF. To learn more, visit the CF
Foundation website.
https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/history

While humans have certainly died from CF for thousands of years, the first clear
references to the disease extend back only a few centuries. European folklore from the
Middle Ages warned “woe is the child who tastes salty from a kiss on the brow, for he is
cursed, and soon must die”. References have been found in medical texts as early as
1595 that linked salty skin and damage to the pancreas with death in childhood by
infants who were “hexed” or “bewitched” [2]. Scholars have proposed that the Polish
composer Frederic Chopin (1810-1849), who died of respiratory failure after a lifetime of
malabsorption and lung infection, likely had a mild form of CF. In 1938, the American
Pathologist Dr. Dorothy Andersen provided the first description of the disorder in the
medical literature, calling the disease “cystic fibrosis of the pancreas” based on her
autopsy findings of children that died of malnutrition. Other physicians of the era
referred to the disease as “mucoviscidosis”, which called attention to the presence of
thickened mucous.

The modern history of CF is dominated by the definition of the underlying genetic

defect, and the rapid increase in survival following the introduction of improved
therapies. During a heat wave in the summer of 1948, Dr. Paul di Sant’Agnese
observed infants presenting with dehydration to a New York City emergency room. This
lead to his discovery that the sweat of children with CF had abnormally high
concentrations of salt, and validated the ancient folklore of the disease. In the 1980s,
the protein defect was described, and in 1989 the responsible gene (CFTR) was
identified and its genetic code was sequenced. With each decade, new therapies have
been introduced, leading to a dramatic increase in survival.

In recent years, public awareness of CF has risen dramatically. In the 1950s and 1960s,
a variety of organizations were formed worldwide, in part to educate patients, families,
and the public about CF. In particular, the CF Foundation(United States) has played a
significant role in developing the current model of CF care, as well as providing financial
support for much of the current CF-related research and drug discovery. More recently,
public attention has been drawn to individuals with CF who are the children (or close
relatives) of celebrities, or who have achieved fame in their own right.

https://en.wikipedia.org/wiki/Cystic_fibrosis#History
CF is supposed to have appeared about 3,000 BC because of migration of peoples, gene mutations,
and new conditions in nourishment.[153]Although the entire clinical spectrum of CF was not recognized
until the 1930s, certain aspects of CF were identified much earlier. Indeed, literature from Germany
and Switzerland in the 18th century warned "Wehe dem Kind, das beim Kuß auf die Stirn salzig
schmeckt, es ist verhext und muss bald sterben" or "Woe to the child who tastes salty from a kiss on
the brow, for he is cursed and soon must die", recognizing the association between the salt loss in
CF and illness.[153]
In the 19th century, Carl von Rokitansky described a case of fetal death with meconium peritonitis, a
complication of meconium ileus associated with CF. Meconium ileus was first described in 1905
by Karl Landsteiner.[153] In 1936, Guido Fanconi described a connection between celiac disease,
cystic fibrosis of the pancreas, and bronchiectasis.[154]
In 1938, Dorothy Hansine Andersen published an article, "Cystic Fibrosis of the Pancreas and Its
Relation to Celiac Disease: a Clinical and Pathological Study", in the American Journal of Diseases
of Children. She was the first to describe the characteristic cystic fibrosis of the pancreas and to
correlate it with the lung and intestinal disease prominent in CF.[10] She also first hypothesized that
CF was a recessive disease and first used pancreatic enzyme replacement to treat affected children.
In 1952, Paul di Sant'Agnese discovered abnormalities in sweat electrolytes; a sweat test was
developed and improved over the next decade.[155]
The first linkage between CF and another marker (Paroxonase) was found in 1985 by Hans Eiberg,
indicating that only one locus exists for CF. In 1988, the first mutation for CF, ΔF508 was discovered
by Francis Collins, Lap-Chee Tsui, and John R. Riordan on the seventh chromosome. Subsequent
research has found over 1,000 different mutations that cause CF.
Because mutations in the CFTR gene are typically small, classical genetics techniques had been
unable to accurately pinpoint the mutated gene.[156] Using protein markers, gene-linkage studies were
able to map the mutation to chromosome 7. Chromosome-walking and -jumping techniques were
then used to identify and sequence the gene.[157] In 1989, Lap-Chee Tsui led a team of researchers
at the Hospital for Sick Children in Toronto that discovered the gene responsible for CF. CF
represents a classic example of how a human genetic disorder was elucidated strictly by the process
of forward genetics.