Marfan Syndrome Moebius Syndrome

You have already completed a basic study about genetics and mutations. For this assignment you will research a specific genetic disorder and create a PowerPoint to explain the disorder by addressing the information outlined below. Potential disorder topics are found in the table. You may also use the link provided below the table to begin your research.

List of possible Genetic Disorders to Research:

• Achondroplasia (Dwarfism)
• Albinism
• Adrenal hyperplasia
• Autism/ Asperger syndrome
• Cystic Fibrosis
• Down Syndrome (Trisomy 21)
• Duchenne’s Muscular Dystrophy
• Familial Dysautonomia
• Gardner syndrome (intestinal polyposis)
• Gaucher’s Disease
• Hemophilia
• Huntington’s Disease
• Jacobsen Syndrome
• Klinefelters Syndrome
• Klippel-Feil Syndrome
• Leukodystrophy
• Lou Gehrig’s Disease (ALS)
• Marfan Syndrome
• Moebius Syndrome
• Polycystic Kidney Disease
• Progeria
• Proteus syndrome
• Retinoblastoma
• Rett’s Syndrome
• Sickle cell anemia
• Spinocerebellar Ataxia
• Tay-Sach’s Disease
• Tourette Syndrome
• Turner Syndrome

Your Guide to Understanding Genetic Conditions. U.S. National Library of Medicine. Retrieved March 16, 2018 from https://ghr.nlm.nih.gov/condition

Topics you should include in your presentation:

Slide 1Title Slide with Name, Course and Date

Slide 2- IntroductionName and describe your chosen disorder. What happens to the body as a result of this disorder? What part or parts of the body does the disorder generally affect? How many people are generally affected in the US (or worldwide)?

Slides 3-4Describe the symptoms of the disorder. What happens in the body to cause the disease? Is it a mutation? How is it inherited? Is it recessive or dominant or sex-linked? Is it triggered by other events? Find 1-2 images to illustrate the symptoms or cause of the disorder.

Slides 5-6How is the disorder diagnosed? What tests are done? Is genetic counseling an option?

Slide 7How is the disorder treated? Discuss medications, gene therapy, etc. Include an image to support your research.

Slide 8- Application of researchSummarize new findings about your chosen disorder by researching current articles. What new information did you learn about your chosen disorder? Include the resource(s).

Slide 9 – ConclusionSummarize your project findings.

Slide 10—ReferencesPlease provide your sources in APA format.