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Cystic Fibrosis

Cystic Fibrosis






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    Cystic Fibrosis Cystic Fibrosis Presentation Transcript

    • Genetic Disorder: Cystic Fibrosis Jaclyn Drobny
    • Cystic Fibrosis
      • Also known as CF
    • 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)
    • Punnett Square
      • Each parent must be a carrier of the CFTR gene.
      R r R r RR Rr Rr rr
    • 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
    • Detection
      • If a person exhibits the symptoms from above they should inquire about further testing.
    • 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.
    • Prognosis
      • The average life expectancy for people with CF is between ages 30-40.
    • Treatment
      • There is no cure for Cystic Fibrosis, some treatments include:
      • Chest physical therapy
      • Inhaled antibiotics
      • Bronchodilators
      • Pancreatic enzyme replacement therapy
      • Gene therapy
    • 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.
    • 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.
    • Genetic Counseling
      • If two people that carry the CFTR gene procreate, each time their offspring has a 25% chance of having CF.
    • Graphics
    • Credits
      • http://www.cff.org/AboutCF/
      • http://learn.genetics.utah.edu/units/disorders/whataregd/cf/index.cfm
      • http://images.google.com/images?gbv=2&svnum=10&hl=en&safe=off&sa=X&oi=spell&resnum=0&ct=result&cd=1&q=cystic+fibrosis&spell=1
      • http://www.mamashealth.com/cfibrosis.asp
      • http://www.cff.org/research/