What is the mutation that causes the disease? What are the effects of having this mutation (in other words, how does the disease present)?

For this discussion, do some research about a particular genetic diseases. Tell the class about the disease you chose to discuss.

What is the mutation that causes the disease? What are the effects of having this mutation (in other words, how does the disease present)?

Are there any cures for this disease? Write at least 150 words. Be sure to give citations and references for all of the information.