Diseases

1 - 10 of 87 Answers

March 6, 2019: In X-linked recessive diseases, why are females who inherit only 1 disease-causing allele carriers, since 1 of the 2 chromosomes is inactivated? What if the chromosome with the normal allele is the one that is inactivated, and the other disease-causing allele is the active one? Why isn’t X-inactivation taken into consideration? Why are females always carriers, and not affected by chance depending on which X chromosome is inactivated?
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February 12, 2019: My mother's twin sister had ALS, my mother didn't. Their mother's sister may also have had ALS. Should I be concerned that I may have inherited the possibility of getting the disease?
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February 8, 2019: Two of my baby brothers have Duchenne muscular dystrophy, my mother is a carrier. My question is if I am a carrier would I get symptoms as I age? And what are the chances of me being a carrier?
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November 1, 2017: Women with Turner syndrome have just one X chromosome but women usually only have one working X because of X-inactivation. Why do women with one X chromosome have any symptoms? 
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September 19, 2017: How does cancer immunotherapy work?
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September 11, 2017: If someone’s sister is a carrier for Duchenne muscular dystrophy, what are that person’s chances for being a carrier too? No one in the family has muscular dystrophy.
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July 18, 2017: How do scientists cure sickle cell disease?
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June 22, 2017: I have a brother who is suffering from Fragile X syndrome (full mutation). I wanted to know, given that I am male, what my chances of being a carrier are. How will the future generations of my family be affected by this?
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May 9, 2017: I found out that I am heterozygous for the H63D hemochromatosis mutation. I'm really worried, because I've read that it's associated with neurodegenerative diseases. Is this true? Does this mean I will get a neurodegenerative disease? Also, is this kind of mutation uncommon?
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February 7, 2017: My sister in law has 4 kids with the last one having the genetic disorder Kabuki Syndrome. I have read that if the kid is a boy, the syndrome is carried by the mother, who in this case is my husband's sister. What is the probability of my husband carrying it? When is the best testing for it? Should we test him before a future pregnancy or the fetus once pregnant?
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