ONE human disorder or disease

Paper instructions:

Your paper should briefly review the signs and symptoms of the disorders, hereditary pattern, diagnosis, testing, treatments, and prognosis (likely outcome after diagnosis).  Most diseases are associated with more than one gene.  You should list at least a few of these genes and their chromosome location.  For one gene, you should provide additional information on the possible function of the gene if known (e.g. regulates the cell cycle, control muscle contraction, etc.).  If the hereditary pattern is complex, you can focus on the hereditary pattern for the specific gene that you chose.