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Please help me with genetic therapy

  1. Dec 7, 2003 #1
    Among the following four disease: Gaucher's Disease, Down Syndrome, Phenylketonuria, and Congenital Heart Disease, which one is the best candidate for treatment through genetic therapy? Please explain the reasons and criteria in detail.

    Thanks so much
  2. jcsd
  3. Dec 7, 2003 #2


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    First look at what is the origine of the disease and when is the disease developed. If the disease as a genetic origin, can the defective gene be easily fixed.

    Down Syndrom is also known as trisomie 21. Therefore there is a extra chromosome 21. It is not easy to fix after the fecundation.

    Phenylketonuria is the inability to remove excess phenylalanine. It occurs in babies who inherit two mutant genes for the enzyme phenylalanine hydroxylase (PAH). This enzyme normally breaks down molecules of the amino acid phenylalanine that are in excess of the body's needs for protein synthesis.

    Gaucher disease is an inherited disorder caused by a deficient form of an important enzyme called glucocerebrosidase. This enzyme is needed for the breakdown of a type of fatty substance. (glucocerebroside) that can build up in cells, especially in the spleen, liver and bone marrow. People who have inherited a mutation (change) in the gene that produces glucocerebrosidase can be affected by the symptoms of Gaucher disease.

    Congenital Heart Disease. The name described it well. This migth be due to a genetic defect but it cannot be easily fixed after the fecundation.

    Your two potential disease are Gaucher's Disease and Phenylketonuria. You should now look where the enzyme is produce. That will give you some clues for what to do next.
  4. Dec 7, 2003 #3


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    That is so funny!

    Right now I am working with the research group who developed the main form of treatment for Gaucher disease: enzyme replacement boy these people must be famous, my boss is head of the European workgroup :) and we are the sole place of treatment for people in the Netherlands.

    So I know from the experts that Gaucher disease is a good candidate for gene therapy since macrophages are the place of accumulation of the fatty acids (the brains are also involve in the severe forms of Gaucher disease though). Practice has shown that gene therapy doesn't work that well though so they have stopped all research into that and are not going to develop it until gene therapy becomes more effective. The thing is, the macrophages which get the correct gene incorporated after the therapy don't have a growth advantage over the normal ones and thus after a few months they loose the good macrophages and gene therapy has to be repeated. Besides enzyme replacement, Gaucher is treated with substrate deprivation (if you were wondering).

    BUT now the question is: which cells are affected in phenylketonurea, since Gaucher might still be a target (although it has been proven not to work so well). And that is for you to find out
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