Molecular basis of the disease

  1. A brief introduction to the disease including the molecular basis of the disease (the membrane protein damage that causes the disease), the size of the gene and the protein, the number of mutations that exist, what class mutation is the one that you are researching and what does it mean?
  2. The basic genetics of the disease (including the genetics describing how each parent must carry one CFTR allele in order for a child to have the disease. How many people get the disease? How is it transmitted?
  3. A review of the allele combinations that the child might have; you will be assigned a main allele to research in an online database, and will research in the database the three possible combinations of that allele. You will include an explanation of the potential health impact of that allele you have been assigned on the child's health (for example, impact on the lungs, pancreas, and potential for Pseudomonas infections.
  4. The last section should be about possible treatments. Are there new drugs (modulators) that can potentially help to deal with the particular version of CF that the child has? Or are only traditional treatment methods possible? What would those methods be? The database search will give you some information about whether The best place to find information about the drugs is on the Vertex website (link is on the database search page directions).