Genetics

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It was September fourteenth nineteen ninety in a hospital in Bethesda, Maryland. Doctor Culver was carrying a small plastic bag containing the first bag of genetically engineered cells intended to treat a human disease. SCID is a disease with a immune deficiency that can be controlled by gene therapy. This girl Cynthia was born with this disease SCID. She has been treated with gene therapy and so far it has worked. SCID is Severe Combined Immunodefficiency. It is a terrible disease that kids are born with and in order to get rid of it you need undergo gene therapy. It is a long process which is costly but well worth. The enzyme that these kids are not producing is ADA or adenosine deaminase. SCID is a birth defect where your parents have the recessive or broken down gene together. It costs a significant amount of money to get this treatment. It is about sixty thousand dollars for weekly injections of PEG-ADA. That is a drug that has the enzyme with a chemical sheath that allows it to get into the bloodstream. SCID is formerly known as the “bubble boy” disease. SCID is a defect in the white blood cells B- and T-lymphocytes that protect us from viruses and disease. A little more than half of the cases of SCID are inherited by the X chromosome from the mother. A mutation in JAK3 which is located on chromosome nineteen will make this defect happen (SCID). Also, X-linked SCID comes from a mutation in the interleukin 2-receptor gamma (IL2RG) gene which then causes SCID. These kids that are born with out a functional immune system can get pneumonia or

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chicken pox and can die before their first birthday. The first treatment ever done with this gene therapy worked and so did the second. Both of the kids Ashanti and Cynthia were not a hundred percent cured but enough for them to be able to live their lives regularly and be able to go places and play sports. They did have to get the weekly injections but it was a great success for the NIH people and all they had to do was get their child hood shots of the common disease and their injections so then they were fine. Yes it was a big hassle and very expensive but those kids were living regular lives for once in their life and they loved it and their parents were cherishing every moment of it.

Gene therapy is a wonderful treatment and all kids born with genetic defects should get it. All except for the price of this lengthy procedure it is well worth it. Can you put a price on how much you love your kid? The whole process takes a long time and depends on the disease and how well it goes. What they do is they take blood from the bone marrow which is where all the T- cells are. The t- cells are the ones that will go back to the bone marrow, which is where other cells are produced so they hope enough survive so that they make more copies of the good cell. To get the good cells in her bad ones they have to

insert them with a needle and take out the nucleus and other parts. Then they put the gene in the cell and hope it takes then when it does they bring back all the good cells with the new gene and insert them into the patients body through a IV. When in her

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body the cells will travel back to the bone marrow which was stated earlier and hopefully will start to produce ADA, the essential enzyme that she needs to build back up her immune system. Some one billion cells were taken out of her body and then placed back in. The only bad part of this therapy is that they can only use white blood cells from the marrow and white blood cells only live for a short time and most of the good cells put back in will die. They can not use red cells because they really don’t reproduce as much as the whites because they only live for two to three months sometimes even shorter. I’m sure any one would spend the most amount of money possible to get their kid healthy. How could you not want to spend the money if you know it will help your daughter/ son to live a normal life for once? How great would it be too see your little Bobby or Nikki running around not having to wear a special suit and be able to play in mud and dirt and not have to worry about them getting sick dying.

Though this case of birth defect is rare when it happens it is a big one and there’s no messing around with it. I is just one of those rarities when both the parents have the broken gene for this disease and neither of them might have it but maybe one out of their 3 children do. There is a fifty/fifty chance every time the mother is pregnant that the kid she is bearing will have the disease. Some get lucky and only one of three will have the disease, but in some cases all three kids could have the disease. It is just