Question

For this discussion board assignment, you will create a discussion board thread about a genetic disease of your choice. Think of your discussion board post as an informative (but brief!) summary teaching your classmates about the genetic disease.

To get started, open the attached document of the List of Genetic Diseases Actions :

(-Cystic Fibrosis
-Down’s Syndrome
-Duchenne Muscular Dystrophy Edward Syndrome
-Familial Alzheimer Disease Familial Breast Cancer
-Fragile X Syndrome Galactosemia
-Hemophilia
-Huntington’s Disease Ichthyosis
-Incontinentia pigmenti Kleinfelter’s Syndrome
-Marfan Syndrome Neurofibromatosis Osteogenesis imperfecta Patau Syndrome Phenylketonuria
-Polydactyly
-SCIDS
-Sickle cell anemia
-Tay Sach’s Disease Thalassemia
-Turner’s Syndrome)

Choose one disorder to investigate and share with your classmates. Try to choose a disorder you may have heard about in the media or that interests you. Draft a discussion board post to include the following:

-Name of the disorder as your subject line for the thread

-Frequency of the disease, and is the disease more common in a particular community?

-Symptoms of the disease

-Genetics of the disease - how is it inherited, dominant or recessive, chromosomal disorder, or is it due to a random mutation?

-Is the location of the gene known? If so, list it

-What types of tests can be done to identify the disease?

-Prognosis - likely outcome for people with the disease, how long will they live, and what will the quality of their life be like

-Possible treatments for those with the condition

If you would like, feel free to include an image in your post. Only one reliable resource is required. Please include the link at the bottom of your post, so we can go and explore to find out more information. List of suggested websites to explore: Learn Genetics (http://learn.genetics.utah.edu/content/disorders/ (Links to an external site.)Links to an external site.) Cold Spring Harbor Laboratory (http://www.ygyh.org/ (Links to an external site.)Links to an external site.) Genetic and Rare Conditions Site at KU Med Center (http://www.kumc.edu/gec/support/ (Links to an external site.)Links to an external site.)

Answer 1

Down’s Syndrome

1.Frequency of disease and most common in particular community: Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and approximately 200,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.

2. Symptom of disease: low muscle tone, small stature and short neck, flat nasal bridge, protruding tongue,usually have cognitive development profiles that suggest mild to moderate intellectual disability.

3. Genetics: Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. People with translocation Down syndrome can inherit the condition from an unaffected parent. The parent carries a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation.

4. Gene location: Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.

5. Test:

• Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low.
• Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.
• After birth, the initial diagnosis of Down syndrome is often based on the baby's appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis.

6. Prognosis :Quality of life also has improved for many children with Down syndrome, but living with the condition is not without difficulties. Generally, children with Down syndrome are able to attend school. Whether the child is placed in a regular (mainstream) classroomor in special education often depends on his or her abilities.

7. Treatment: Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs.

https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983

http://www.healthcommunities.com/down-syndrome/children/down-syndrome-prognosis-prevention.shtml