Julia had a sibling who died because of a genetic disease as an infant. before having children, she and her husband tobias get genetic testing and counseling. they are unlucky. for the gaa gene, julia has one normal allele and one totally non-functional allele. tobias has one normal allele and one totally non-functional allele. imagine you are their genetic counselor. explain to the parents, what causes the disease and explain how it affects the body and how the treatment for pompe will work. use this checklist to make sure your answer is complete: how is the dna of an offspring with pompe different than the dna of somewhat without the disease? what function is being disrupted at the cellular level ? why does having this disease lead to death (what happens to the body)? what is the treatment that is used to pompe patients? how does it "fix" the problem? are offspring with pompe cured for life once they receive a dose of the medicine? explain why or why not.
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