For this assignment, you will research a genetic disorder and create a presentation about the...

Question

For this assignment, you will research a genetic disorder and create a presentation about the disorder. Choose from one of the following disorders:

Cystic fibrosis

Down syndrome

Hemophilia

Turner syndrome

Tay-Sachs disease

Huntington's Disease

Marfan syndrome

Sickle Cell Disease

Neurofibromatosis

In your presentation, after you identify and briefly describe the disorder, you should address the following topics:

What causes this disorder

The genes/chromosomes that are involved

Is the disorder inherited?

Role of dominant or recessive genes

Any influence from the environment? (Address if/how nature vs. nurture applies to this disorder)

Is this diagnosed in utero? How?

How the disorder affects prenatal development

How the disorder affects postnatal development

Please include slides for each of these bullet points. For example, even if there is no influence from the environment, you should still have a slide that explains that there is no influence from the environment. All of these bullet points need to be addressed in the presentation and clearly labeled at the top of each slide. (See the rubric below. Each criteria is worth up to 3 points, for a total of 18 possible points.)

Your presentation should be at least 10- to 15-slides in length, and should include pictures or diagrams. You are welcome to use PowerPoint, Prezi, or another presentation tool of your choice. Be sure to cite your sources, both for your written information and for any images. All sources must be cited usingAPA-formatted in-text citations, with a reference slide at the end. Some good sources of information include:

http://ghr.nlm.nih.gov/

http://learn.genetics.utah.edu/content/disorders/whataregd/

http://www.genome.gov/10001204

http://www.ygyh.org/

When you are finished, submit your presentation here. After you have submitted it here, go to theGenetic Disorders Presentation Discussionand post your presentation, so that you can share it with the class. Read at least one other classmate's presentation (on a disorder different from the one you researched), and respond to it. This discussion activity is worth an additional 2 points, for a total of 20 points possible for this assignment.

Dilpreet · Accepted Answer

SICKLE CELL DISEASE
SICKLE CELL DISEASE
1
ABOUT SICKLE CELL DISEASE
Disorder that affects hemoglobin
Red blood cells are distorted 
Hemoglobin S an atypical hemoglobin molecule causes this
Red blood cells convert to sickle shape
Source: Mayo clinic
Sickle disease has been identified as a red blood cells (RBC) disorder which is inherited. This disorder affects the hemoglobin, the molecules in RBC which are extremely important to deliver oxygen to cells throughout the human body. As mentioned by Piel, Steinberg and Rees (2017) this disorder is caused by alteration in a single DNA base and is influenced by genes. People who suffer from this disorder have unusual molecules of hemoglobin known as hemoglobin S which distorts the shape of RBCs. 
2
IMPACT OF SICKLE CELL DISEASE
Reduces the number of red blood cells causing anemia
Causes repeated infections and periodic periods of pain
Abnormal proteins in the blood cell
Can cause shortness of breath, fatigue and delayed growth in children.
Sickle cell disease reduces the number of red blood cells in a person which causes anemia. This also increases the chances of person affected by this diseases be suffering from frequent infections and periodic episodes of extreme pain. This diseases causes a abnormal proteins in the blood. As it affects hemoglobin molecules which carries oxygen to other cells of human body, this disease causes shortness of breath and fatigue. This disease adversely affects the growth of children. 
3
SYMPTOMS OF SICKLE CELL DISEASE
Yellowish color of skin
White eyes
Fatigue
Painful swelling of hands and feet
Early symptoms of the disease includes yellow color of the skin due to lack of RBCs and white eyes due to the same reason. Due to lack of oxygen in the blood cells people with this order suffer from fatigue. The signs and symptoms of the disease may also include swelling of hands and feet with painful episodes. 
4
CAUSES OF SICKLE CELL DISEASE
Inherited disease caused by defects called mutations
Mutation is caused in the genes
Abnormal hemoglobin called hemoglobin S
This causes red blood cells to become rigid
This affects the flow of blood
Source: genetics home reference
This disease is caused by the mutation in the genes.

For this assignment, you will research a genetic disorder and create a presentation about the disorder. Choose from one of the following disorders: Cystic fibrosis Down syndrome Hemophilia Turner...

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