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History of the disease in the human population: when was it discovered? How?
What is the gene or genes that is/are mutated? Include chromosomal location and provide a detailed description of mutations associated with the disorder including how many mutations associated with the disease and detail the molecular effects; how is the protein structure disrupted by the mutation and how does this disruption cause disease?
Epidemiology: describe the current state of the disease in terms of susceptible populations. Who gets the disease? What is the prevalence? Are there any demographic specifics for susceptibility?
What is the disease like? What is the phenotype? What do those with the disease suffer from in terms of symptoms, and how does that relate to gene function and the mutation.
How is the disease inherited? Dominant or Recessive? Is there sex-linkage? Or is there another form of inheritance for the mutated alleles?
What are the current treatment options? Describe any drugs or pharmaceuticals that are used to treat, and how do they work? Is there any gene therapy available? If so, describe.


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