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One of the most joyous occasions in a personís life is the news that they are expecting a baby. The news for most parents to be is a happy one. Both parents dream big of what their unborn child will be like. Will he play sports or run for office? Will she do ballet or become a doctor? For most, all they want is to have a healthy, happy baby. But for some parents, they face a different reality. Their child has been diagnosed with an incurable inherited disease with poor prognosis and that child will ultimately die from.
One such disease is Cockayne Syndrome; it is a rare genetically inherited disease. Named after Edward Alfred Cockayne (1880-1956), a London physician who concentrated particularly on hereditary diseases of children. (Cockayne Syndrome, 2006) Cockayne syndrome is caused by mutations in one or more genes, most common have an ERCC6 mutation or ERCC8 mutation. These genes provide instructions for making proteins that are involved in repairing damaged DNA. (Bhojwani, et al., 2009) When the DNA damage is not repaired, it can lead to malfunctioning cells or cell death.
Cockayne Syndrome is classified as an inheritable autosomal recessive disease. Meaning that both the mother and father each carry one copy of the mutated gene. Typically both parents are unaffected and show no signs or symptoms of the condition. Most parents are unaware that they ha...