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Screening Infants
- Chromosomal abnormalities- downs syndrome
- Disease that they can do something about it they intervene right now
- Phenylalamine (aa) you are screened for at birth. Will cause sever mental retardation off of this by age two they wont get this.
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Screening Adults
- Adult onset diseases that occur later in life--alzheimer and huntington
- Also screen for genes that might be passes onto children-- CF and sickle cell amenia
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Invirto Fertalization
- Preventing disease transfer to offspring
- Women ovulates 8-10 times instead of 1 and they all grow alike inside a plate
- Remove one cell and run tests on it
- Finds ones that done have the disease and implant them into her
- Preimplantation Genetic Diagnosis= PGD
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PGD
- Preimplantation Genetic Diagnosis
- 30% success rate
- Looking for a tissue match for the older siblings
- This is so she can be a donor for her sister
- 9% of cases are done for what is called family balancing-sex selection
- Very expensive (20,000)
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Designer Children
- Making them tall, dark and handsome
- Swapping out genes
- Does not work....yet
- Dont know enough about genes
- Only screening for diseases, tissue match and gender
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Gene Therapy
- Genetic engineering in humans
- Replacing a defective gene with a healthy one
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Gene therapy- SCID
- Sever Combined Immune Deficiency Disease
- Missing a protein- immune cells did not work well
- Little boy in bubble
- Worked for the one girl- gene therapy- have to be done repeatedly because the cells dont survive
- Found a way to get into bone marrow- cured
- If inserted into the wrong place could cause serious things like lukemia
- Since it causes deaths everything haulted
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Gene Doping
- Athletics using gene therapy to enhance performance
- Dangerous
- Survey of olympics said they would take it to win even if it would kill them in five years 65%
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Gene Doping- Oerythropoiden
- Hormone that increases red blood cells in your body
- Endurance increases
- Problem when you eject the EPO it doesnt know when its enough which can lead to too many RBC
- People that do this have just died in their sleep
- Maybe if you injected the EPO it would regulate itself then be undetectable
- Turn on when oxygen is low- making low blood cells
- Gene therapy for muscle wasting disease like muscular dystrophy
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