Provide an overarching narrative of the information presented in the case study
• Draw the pedigree of James’s family
• Use your knowledge to describe the genetic basis and clinical presentation of Huntington disease, with particular emphasis on the molecular mechanistic aspects (from gene structure to protein alteration and likely effect on function)
• Which genetic tests was Matthew (and would have been James) referred for? What are the current methods for the diagnosis of Huntington disease?
• Which type of DNA change would have been revealed by Matthew’s DNA analysis? Why is testing Matthew’s DNA crucial to formulate a correct diagnosis?
• At present, is there a cure for this disease? What is the prognosis for Matthew?
• Using your knowledge and critical skills outline what are in your opinion the most promising current developments in terms of treatment and therapeutics options for Huntington disease
• Discuss the potential emotional and ethical issues surrounding predictive genetic testing for Huntington disease
Sample Solution