Annelie on asthma, humor, and the world.

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Alpha 1 Antirypsin deficiency is a genetic and when the carrier has it and get sick often a cause to bad lung, asthma, COPD, and similar, and even kidney, lung and similar problems.

All people with lung problems should be screen.

Other resources:

Norwegian
http://nevro.legehandboka.no/prover-og-svar/klinisk-kjemi/blodprover/alfa1-antitrypsin-2939.html

Beyond the Ion Channel

How frequent? With all the genetic information around, we are often wondering how much genetic morbidity is really hidden in our genomes. Yes, everybody is a knock-out for 1-3 genes, but in most cases, these variants do not cause disease. However, what happens if you apply genomics to estimate the burden of known disease variants? Now in a recent paper in Genetics in Medicine by Lazarin and colleagues, the carrier frequency for ~400 variants known to cause ~100 recessive disorders is investigated. 24% of all individuals are carriers for at least one recessive disorder.

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Author: Annelie

I like canoeing, photographing, friends, movies, food, humor, and going on trips. I dislike rudeness, dishonesty, violence, nastyness, and people not caring for others. I do not drink much, I do not smoke and I do not do drugs. I love friends who are kind to me and stick with me. If you want to give me a gift, the best gift is to stop smoking and stop using fragranced products. Then you give me health and that dear friend, is the best gift a person can get. It is a gift of love. I got asthma and I am hearing disabled.

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