Genetic Disorder: Cystic Fibrosis

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Genetic Disorder Cystic Fibrosis

• Jaclyn Drobny

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Cystic Fibrosis

• Also known as CF

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Mode of Inheritance

• Cystic Fibrosis results from inheriting gene
  CFTR on chromosome 7.
• The CFTR gene is recessive.
• 2,500 babies are born with CF yearly (U.S. only)

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Punnett Square

• Each parent must be a carrier of the CFTR gene.

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Symptoms of the Disorder and Detection

• Over 70 of CF patients are diagnosed by age 2.
• Frequent symptoms include
• Very salty skin/sweat
• Coughing with phlegm
• Frequent lung infections
• Wheezing and shortness of breathe
• Lack of weight gain
• Abnormal stools

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Detection

• If a person exhibits the symptoms from above they
  should inquire about further testing.

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Diagnostic Testing

• A sweat test-measures amount of sodium chloride
  in sweat
• Blood test- measures amount of trypsinogen ( type
  of protein)
• Genetic test- detects if both parents carried the
  CFTR gene.

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Prognosis

• The average life expectancy for people with CF is
  between ages 30-40.

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Treatment

• There is no cure for Cystic Fibrosis, some
  treatments include
• Chest physical therapy
• Inhaled antibiotics
• Bronchodilators
• Pancreatic enzyme replacement therapy
• Gene therapy

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Statistics

• There are about 70,000 cases of CF in the world
• CF is the 1 genetic disease killer in the U.S
• 1 in 20 Americans is unknowingly carrying the
  CFTR gene.

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Current Research

• In 1989 researchers had there biggest break
  through yet, when they discovered the gene that
  codes for CF. This allows further research to be
  much more productive.
• Gene therapy treatments have begun.
• They are searching for ways to correct the
  defective proteins that make up the gene.
• There are currently over 24 therapies treatments
  in development.

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Genetic Counseling

• If two people that carry the CFTR gene procreate,
  each time their offspring has a 25 chance of
  having CF.

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Graphics
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Credits

• http//www.cff.org/AboutCF/
• http//learn.genetics.utah.edu/units/disorders/wha
  taregd/cf/index.cfm
• http//images.google.com/images?gbv2svnum10hl
  ensafeoffsaXoispellresnum0ctresultcd1
  qcysticfibrosisspell1
• http//www.mamashealth.com/cfibrosis.asp
• http//www.cff.org/research/