Understanding Genetic Disorders
Click: http://learn.genetics.utah.edu/units/disorders/whataregd/
1. A genetic disorder is a disease that is caused by an ________________n an
individual's _______.
2. Abnormalities can range from a small __________in a _____________ to the
addition (or subtraction) of an entire ______________.
1. What is galactosemia?
2. What type of disorder is this?
3. What are the symptoms of galactosemia?
4. How do doctors diagnose galactosemia?
5. How is galactosemia treated?
1. What is cystic fibrosis?
2. What type of disorder is this?
3. How do people get cystic fibrosis?
4. What are the symptoms of cystic fibrosis?
5. How do doctors diagnose cystic fibrosis?
6. How is cystic fibrosis treated?
7. Interesting facts about cystic fibrosis (Name 3)
1.
What is sickle cell disease?
2. What type of disorder is this?
3. How do people get sickle cell disease?
4. What are the symptoms of sickle cell disease?
5. How do doctors diagnose sickle cell disease?
6. How is sickle cell disease treated?
7. Interesting facts about sickle cell disease (name 3)
1.
What is Williams syndrome?
2. What type of disorder is this?
3. How do people get Williams syndrome?
4. What are the symptoms of Williams syndrome?
5. How do doctors diagnose Williams syndrome?
6. How is Williams syndrome treated?
7. Interesting facts about Williams syndrome (name 3)
1. How do people get Down Syndrome?
2. What type of disorder is this?
3. What are the symptoms of Down syndrome?
4. How do doctors diagnose Down syndrome?
5. How is Down syndrome treated?
6. Interesting facts about Down syndrome (Name 3)
.
1.
What is Turner syndrome?
2. What type of disorder is Turner Syndrome?
3. How do people get Turner syndrome?
4. What are the symptoms of Turner syndrome?
5. How do doctors diagnose Turner syndrome?
6. How is Turner syndrome treated?
7. Interesting facts about Turner syndrome (Name 2)
1. What is Klinefelter syndrome?
2. What type of disorder is Klinefelther syndrome?
3. How do people get Klinefelter syndrome?
4. What are the symptoms of Klinefelter syndrome?
5. How do doctors diagnose Klinefelter syndrome?
6. How is Klinefelter syndrome treated?
7. Interesting facts about Klinefelter syndrome (Name 2)
1.
What is Huntington's Disease?
2. What type of disorder is it?
3. How do people get Huntington's Disease?
4. What are the symptoms of Huntington's Disease?
5. How do doctors diagnose Huntington's Disease?
6. How is Huntington's Disease treated?
7.
Interesting facts about Huntington's Disease (name 2)
1.
What is hypothyroidism?
2. What type of disorder is it?
3. How do people get hypothyroidism?
4. What are the symptoms of hypothyroidism?
5. How do doctors diagnose hypothyroidism?
6. How is hypothyroidism treated? (Name 3)
1.
What is colon cancer?
2. What type of disorder is it?
3. How do people get colon cancer?
4. What are the symptoms of colon cancer?
5. How do doctors diagnose colon cancer?
6. How is colon cancer treated?
7. Interesting facts about colon cancer (Name 3)
8.
What is Alzheimer's disease?
9. What type of disorder is it?
10. How do people get Alzheimer's disease?
11. What are the symptoms of Alzheimer's disease?
12. How do doctors diagnose Alzheimer's disease?
13. How is Alzheimer's disease treated?
14. Interesting facts about Alzheimer's disease (Name 3)
Click: http://learn.genetics.utah.edu/units/disorders/karyotype/
Click the following links and describe how each one of these disorders occurs.
Down Syndrome
Turner Syndrome
Klinefelter Syndrome
Cri du chat Syndrome
Williams Syndrome
Reciprocal Translocation: Philadelphia Chromosome
Robertsonian Translocation
Click http://learn.genetics.utah.edu/units/disorders/counselors/
What two functions do genetic counselors serve?
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Click: http://learn.genetics.utah.edu/units/disorders/newborn/
1. What is newborn genetic screening?
2. Who performs newborn screening?
3. Who is screened?
4. Who pays for screening?
5. Who decides?
What is your opinion on the following 6 topis. (Three sentences each)
1. Which disorders should be included in the screening program?
2. Who pays for the screening program, and how?
3. Who should be screened?
4. Who has access to test results?
5. Who benefits from the screening program?
6. What are the potential risks of screening?
Genetic Disorder Case Study: Neurofibromatosis Type 1
Click: http://learn.genetics.utah.edu/units/disorders/nf1/
Click the following links and answer each question below with at least 2-3 sentences.
1. What Causes NF1?
2. How Do Physicians Diagnose NF1?
3. What Does "Type 1" Mean?
4. Is NF1 the Elephant Man's Disease?
5. Why is NF1 so Variable?
6. Can NF1 be Diagnosed by Genetic Testing?