The project is made up of five deadlines: Topic Selection- Due January 21st, 2021 Part 1 Draft- Due February 16., 2021 Part 2 Draft- Due March 11., 2021 Part 3 Draft- Due April 20., 2021 Final Draft- Due May 5., 2021 List of Genetic Disorders: A list of genetic disorders is provided below. If you are interested in a genetic disorder not included in the list, please have it approved first. Achondroplasia Edward’s Syndrome Klinefelter’s Retinoblastoma Alopecia area. Fibrodysplasia Ossificans Marfan Syndrome Sickle Cell Anemia Albinism Fragile X syndrome Methemoglobinemia Spinal Muscular Atrophy Brachydactly Familial Breast Cancer Neurofibrornatosis Tay-Sach’s Cleft Palate Familial Alzheimer Osteogenesis lmperfecta Thalassemia Color Blindness Galactosaemia Patau Syndrome Trisomy X Female Cri du Chat Syndrome Hemophilia Phenylketonuria Treacher-Collins Cystic Fibrosis Huntington’s Disease Polydactyly Turner Syndrome Down Syndrome Ichthyosis Prader-Willi Syndrome XYY Male Syndrome Duchenne Muscular Dystrophy Requirement: Report: 750 words minimum to 1050 words maximum, not including references. Your Human Genetic Disorder assignment most include all required components of a research paper including the introduction, body, conclusion, references. The body of your project report must include the following information: Part 1 (Draft due: February 16., 2021) 1. Name of the disorder selected including alternate names. a. How was the name of the disorder chosen? b. When, who, where and how was the disorder discovered? c. Why did you choose this disorder?
d. Description of the disorder. e. What are the specific symptoms of your genetic disorder 2. Describe how the disorder is inherited
a. (autosomal dominant, autosornal recessive, X .linked dominant, /clinked recessive, trisomy, monoso my, deletion, duplication, inversion, translocation)?
b. What are the chromosomes/gene or genes involved? 3. Statistics. What is the incidence (fre quencyloccurrence) of your disorder? Include: a Frequency among births? b. Is there a certain race, Nationality it is most common in? c, Is it more common in men or women?
Part 2 (Draft due: March 11., 2021) 4. Diagnosis/Prognosis of individual with disorder a. For example, the life expectancy of a person with the disorder, limitations they may face, etc. b. How does this disorder impact the person who has it? c. How does this disorder impact family members? d. How does this disorder impact society/community members? 5. When and how (ie. Genetic testing) is your disorder diagnosed? a. Is genetic testing available? b. What is it? How is it done? What type of results would one expect? c. Who is typically tested
6. Treatment a. What is the current “treatment of the disorder and current treatment of symptoms
b. If no treatment is available, what can be done for a person with this disorder? c. What was the treatments of the past? d. Is gene therapy a possibility?
Part 3 (Draft due: April 20., 2021)
7. What ethical and social implications may arise from the use of genetic technologies in the diagnosis, treatment and/or prevention of your genetic disorder? a. For example, what are the ethical implications of prenatal screening, stem cell research, gene therapy etc.
B. In the f uture, how might genetic technologies be used more effectively in the diagnosis, treatment and prevention of your disorder?
a. What obstacles will have to be overcome in order for this to take place?
9. Is there any promising research currently being done on this disorder/disease (Ideally use your primary research article)?
Fteferences.
a. You must have a minimum of 4 reputable sources preferably published since 2000. b. You will cite the references throughout your document using footnotes or endnotes and provide the citations at the bottom of the document or page in a standard format. c. One reference should come from a primary research article, one article should come from a scientific journal review article. The other references can come from books, magazine and newspaper articles, or reputable websites. Note: Wikipedia or other encyclopedias are not allowed as one of these references.
