Genetic Diseases and Conditions

1 - 10 of 160 Answers

September 19, 2017: How does cancer immunotherapy work?
See Answer

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.
See Answer

July 18, 2017: How do scientists cure sickle cell disease?
See Answer

June 28, 2017: I have sickle cell trait and my husband does not. We have had two children with sickle cell trait. Does that mean our third one will not?
See Answer

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?
See Answer

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?
See Answer

March 7, 2017: Can a baby be born lactose intolerant?
See Answer

February 27, 2017: I am worried about familial ALS because I have rs3849942(A;A). Does this mean I for sure will end up with ALS?
See Answer

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?
See Answer

November 15, 2016: I know someone with a balanced translocation. The doctor said there are four possible combinations for her kids. Can you explain what they are?
See Answer