what is the purpose for finding what genes are linked to a disease? what can this allow us to do in terms of understanding the mechanism behind the disease, helping those with the disease, etc? please be specific?
i have a vague notion that genetic counseling has something to do with what can be helped, if that is the case, please elaborate?
thank you!!
Benefit of finding a gene linked to a disease?
Let me give you a practical example.
Due to my genetic inheritance, I'm pretty much assured of a fairly mild form of post-menopausal breast cancer.
If we knew the gene that cause that particular breast cancer (we do not, yet) screening me for it could tell me whether I really need a mammogram every 6 months when I'm post-menopausal. That saves a buttload of money and resources if I don't.
Here's another example. When my son was 13 and got a blinding headache with vomiting and nausea, his family history of migraine disorder (including male relatives) meant they gave him migraine drugs first, then did all the tests for neurological disorders. Since migraines are very uncommon in men, without that family history we would've waited months before they realized it was migraine disorder- months in which my son was in massive pain. If he could've been screened for the gene, we could've been prepared for the possibility he'd get a migraine-even with the family history we were not.
Reply:understanding the process by which specific genes cause the disease can sometimes allow a remedial or preventive action.
identifying the gene in fetuses can allow counseling for early abortion of fetuses with potential or certain genetic diseases.
Reply:Genetic counselling and prenatal testing - for instance in the case of Down's all mother's (in the UK at least) can be screened for the risk of having a child with Down's syndrome.
Diagnosis (this is less subjective than making a diagnosis based on clinical presentation).
Understanding the mechanism - if you now what the gene is and what protein is affects, you can develop a treatment around it.
Positive cure in the future. There is all the research in stem cell and genetic engineering.
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