For this project, you will be researching a genetic disease and developing an informational presentation about this disease. This assignment is asking you to synthesize your knowledge about cells, reproduction, DNA, and genetics. You will apply this information to a genetic disease to evaluate how the disease and treatments function. Then, you will review potential up-and-coming treatments for the disease. Step 1: choose a disease Choose one of the following genetic diseases to research for your project: · Achondroplasia · Breast cancer · Cystic fibrosis · Duchenne muscular dystrophy · Familial hypercholesterolemia · Fragile X Syndrome · Hemophilia · Huntington’s disease · Klinefelter syndrome · Marfan syndrome · Osteogenesis imperfecta · Phenylketonuria · Retinitis pigmentosa · Sickle cell disease · Tay-Sachs disease · Turner syndrome · Parkinson’s disease CHECK OUT WEBSITE https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders to help make your decision. You can also use this website as one of your references! Step 2: understanding the disease Your project must address all the following topics to be considered for full credit: 1. Background of disease: include the name of the disease, any alternate names used, provide a description of the disease, and the typical age of onset. 2. Type of genetic disorder: explain if and how this disorder is inherited. Explain the genetic causes of the disease. Is it inherited? Is the disease a dominant or recessive trait? Which chromosome is affected in this disease? Is a gene mutated? If so, which gene is affected? How is gene expression impacted (is it a particular type of mutation, a case of a misshapen protein, etc.?)? 3. Image/Graphic: Use at least two different images to help the audience understand the cause and/or inheritance pattern of the disease you chose. The two images should not convey the exact same information about the disease. o Ideas of images to use include: karyotypes, pedigrees, DNA sequences, etc. o Additional images may be pictures of the actual condition, but images of the condition will not count toward your 2 required images. The 2 required images must be related to cause and/or inheritance pattern 4. Impacts of the disorder: explain the symptoms and effects the disorder causes 5. Diagnosis and prognosis: describe how individuals are diagnosed with the disorder and what is a typical prognosis 6. Treatment: explain treatments that are available, if any. Are there technologies on the horizon that could treat this disease?
