Genetic Disorders Project

Use these sites as a starting point for your genetic disorder research.

Keep in mind that you want to follow the guidelines from outcome 11: Student can describe a genetic disorder*, including the symptoms, treatment, screening, and the genes and chromosomes involved (if known).

You will also want to consider outcome 10: Student can identify the role of genes (genotype) and the environment in determining an individual’s phenotype.

One other factor that you should consider is if the disorder is a single gene disorder (sometimes called a monogenic disorder) or if it is a complex disorder (sometimes called polygenic or multifactorial). If it's a single gene disorder, is it dominant or recessive? Is it an autosomal or a sex-chromosome disorder? Does it seem to be genetic at all? Is there still research to be done to determine the specific genetic links? What other clues can you use to determine if there's a link (for example, higher incidence in certain ethnic groups)?

NEW! Check out more information about multifactorial disorders! Make sure to check out some of the "For More Information" links, especially the ones from the Wellcome Trust and the Centre for Genetics Education.

First, check out Health Topics at Medline Plus from the National Institutes of Health. This has fairly basic information about many disorders.

Also look here at the National Human Genome Research Institute's page on Specific Genetic Disorders.

The Genetics Home Reference from NIH also has specific information listed by condition name or chromosome number. Hint: use the search box at the top right of the page or search by the first letter of the condition. This is the same site that I used to find the gene and chromosome information about Cystic Fibrosis and Huntington's Disease.

The Gene Gateway is a companion to the Human Genome Landmarks poster and has information about each chromosome as well as a wealth of other information. It is the website that I used to print off the pictures of the chromosomes.

Grading:

To be proficient in this outcome, you should address all 4 parts of the outcome as described above in some detail using one or two sources each.

To earn high performance in this outcome, you should address all 4 parts of the outcome as described above in a large amount of detail using two or more sources each.

For example, for cystic fibrosis' symptoms, it would be proficient to say, "Cystic fibrosis is a disease that causes problems with the digestive and respiratory systems and ususally results in early death." (Source: BSCS Biology Textbook)

For HP for the symptoms, you would say, "Cystic fibrosis is s disease that cuases problems with the respiratory and digestive systems and usually results in early death, although some patients can live up to age 35. It causes the patient's mucus to be thick, which clogs the lungs and can encourage bacteria growth." (Sources: BSCS Biology Textbook and Medline Plus: Cystic Fibrosis")

*You may have to look for other keywords to search for (for example, heart attack is also called myocardial infarction.)