Posted: March 29th, 2023

Genetic condition for this assignment: Down syndrome

Genetic condition for this assignment: Down syndrome .... Genetic Condition Research
Value – 70 points

Overview: The goal of the genetic condition research project is for you to become a genetic expert on a chosen genetic condition. You will be turning in a Microsoft PowerPoint, with self-narration, in the later portion of the semester (see assignment schedule for exact date). You will complete the assignment by reviewing the available scientific literature and compiling information in an organized, cohesive presentation. The PowerPoint will be 20-25 slides and will be graded for correctness and aesthetics (see details below). The PowerPoint will be posted on Canvas, and may also be posted in a discussion board for review for your classmates.

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Genetic condition for this assignment: Down syndrome

Instructions, requirement, and rules:

Format Rules: For the presentation, choose a professional, legible, consistent background and font style. The font size should not be less 20 points, with no more than 50 words on a single slide. Strong consideration should be used to include at least 1 picture, diagram, or graphic on each slide (make sure each image includes a caption underneath, Image Credit: (the website you gathered the image from). The presentation should be 20-25 slides minimum. Additionally, a self-narration will be included in the submitted presentation. Audio-only is required.

Slide Requirements: Slides do not need to be in this exact order; however, all the information should be included.

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• Title Slide: A professional, scientific title, the name of genetic condition, and student name

• Overall description of the condition, who gets it, and frequency.

• Maximum/Multiple Slide Effort Here: What is the cause of the genetic condition? Is there a specific mutation and if so on what chromosome does it occur? Are there potential causes outside of genetics?

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• Maximum/Multiple Slide Effort Here: What is the specific pattern of inheritance? Is it sex-linked? Is it recessive or dominant or codominant? Can you visualize it with punnet squares or a pedigree analysis?

• What are the signs and symptoms of the condition? What systems of the body does it affect and how does it affect them? What parts of the cell does it affect and how?

• How is the disease diagnosed, and what is the life span of someone with the condition?

• What is the history behind the condition? Who discovered it or/and who have done research on the condition?

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• What are the current treatment options?

• What are some future condition treatments? Genetic technology, gene therapy, genetic engineering?

• What are some organizations that can provide support for families living with this condition?

• Include interesting facts about the condition such as controversies, treatment failures, cost of treatment, or advantages to having the condition.

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• Why did you choose this condition? Included in the rough draft submission, but crafted and polished for the final.

• Reference Slide: At least 4 scientific sources in APA format which have been cited in the presentation where appropriate. For an excellent starting point, use United States National Library of Medicine: Genetics Home Reference, https://ghr.nlm.nih.gov/.

List of possible Genetic Disorders to Present:

Achondroplasia
Albinism
Alzheimer’s disease
Angelman syndrome
Ankylosing spondylitis
Apert syndrome
Autism Spectrum disorder
Breast cancer
Cleft lip and palate
Congenital adrenal hyperplasia
Cri du chat (Cat’s Cry Syndrome)
Cystic Fibrosis
Down Syndrome
Duchenne muscular dystrophy
Epidermolysis bullosa
Ehlers- Danlos syndrome
Fragile X syndrome
Hereditary Hemochromatosis
Haemophilia
Huntington’s disease Hypohidrotic ectodermal dysplasia
Klinefelter syndrome
Maple Syrup Urine Disease
Marfan syndrome
Neurofibromatosis
Noonan syndrome
Osteogenesis imperfecta
Parkinson’s disease
Polycystic Kidney disease
Prader-Willi syndrome
Rhett syndrome
Sickle Cell Anemia
Tay-Sachs disease
Thalassemia
Treacher Collins syndrome
Triple-X Syndrome
Turner syndrome
Von Willebrand disease
Williams syndrome
XYY syndrome
Grading Rubric:
Slide Requirements Presentation covers all requirements mentioned above in the student’s own words. Is organized and easy to follow. Most requirements mentioned above are covered by the presentation, or it is not fully organized. Only some requirements mentioned above are covered. Organization may be incomplete. Presentation covers few to no requirements mentioned above. Little original thought and organization. /45
Self-Narration Student includes a clear, organized, and articulated self-narration that covers the presentation in a professional scientific manner and relates it to course materials. Student includes a self-narration that is somewhat clear, organized, and articulated self-narration but lacks polish and detail Student includes a self-narration that is rather unclear, unorganized, and mumbling and lacks polish and detail Student did not include a self-narration or an unacceptable version. /12
Formatting All formatting mentioned in instructions is followed and no grammatical or spelling mistakes. One formatting error and/or 1-2 minor grammatical or spelling mistakes. Two formatting errors and/or 3-4 grammatical or spelling mistakes. Not formatted: too short, or has more than 4 spelling or grammatical mistakes. /9
Sources/Credits Presentation includes at least 4 scientific sources, which are cited in the presentation. Presentation includes image credit captions for all images. Presentation includes less than 4 scientific sources, and/or is missing a citation in the presentation. Presentation includes most image credit captions for images. Presentation includes 1-2 scientific sources, some citations in the presentation. Presentation includes a few image credit captions for. Presentation is missing sources, citations, and image credit captions. /9
Total =

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What are the signs and symptoms of the condition? What systems of the body does it affect and how does it affect them? What parts of the cell does it affect and how?

• How is the disease diagnosed, and what is the life span of someone with the condition?

• What is the history behind the condition? Who discovered it or/and who have done research on the condition?

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• What are the current treatment options?

• What are some future condition treatments? Genetic technology, gene therapy, genetic engineering?

• What are some organizations that can provide support for families living with this condition?

• Include interesting facts about the condition such as controversies, treatment failures, cost of treatment, or advantages to having the condition.

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• Why did you choose this condition? Included in the rough draft submission, but crafted and polished for the final.

++++++
The condition I have chosen is cystic fibrosis (CF), which is a genetic disorder that affects multiple systems in the body, particularly the respiratory, digestive, and reproductive systems.

The signs and symptoms of CF can vary in severity, but some common ones include frequent lung infections, persistent cough with thick mucus, difficulty breathing, poor growth and weight gain, salty-tasting skin, digestive problems such as pancreatitis and bowel obstruction, infertility in males, and reduced fertility in females.

CF affects the cells that produce mucus, sweat, and digestive enzymes, leading to the buildup of thick, sticky mucus in the lungs, pancreas, and other organs. This can cause inflammation, infection, and tissue damage, impairing the function of the affected organs.

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CF is typically diagnosed through a combination of clinical symptoms, genetic testing, and sweat chloride tests. The life span of someone with CF has significantly improved in recent years, with many people living into their 30s, 40s, or even longer with proper management of their condition.

The history of CF dates back to the early 20th century, but it was not until the 1980s that the CF gene was discovered, leading to improved understanding and treatment of the condition. Today, CF research is ongoing, with a focus on developing new therapies that target the underlying genetic defect.

Current treatment options for CF include airway clearance techniques, antibiotics, pancreatic enzyme supplements, and medications that target specific symptoms or complications. Some promising future treatments for CF include gene therapy and

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