Go to the National Center for Biotechnology Information (NCBI) Web site, and click on Online Mendelian Inheritance in Man™ (OMIM™). Go to Human Genome Resources, and click on Genes and Disease. Find a genetic disease that interests you and write a paragraph starting with a one-line to three-line description of the NCBI Web site and those responsible for OMIM™. The rest of the paragraph should address the following questions about the disease: What are the tissues and/or organs aff ected? What is the disease’s incidence, symptoms, and long-term consequences? Do any medical treatments exist? Make a list of any words you did not understand, look them up, and supply a definition next to each word.
What will be an ideal response?
The reason this question is added to this chapter is that many advances
in medical technology are going to be in the area of medical diagnostics. As
a result of the Human Genome Project, it will be diagnosing genetic disease
or predispositions to specifi c disease states such as heart disease or certain
cancers. Individuals must know where the information used to develop
these tests is stored, and that is the DNA databases found at NCBI. If you feel
this question is too advanced for the students, do it as an in-class discussion
in a computer facility or as a paper exercise by picking one genetic disease
to discuss. Sickle cell anemia, cystic fi brosis, and PKU are examples of genetic
diseases that can be detected and have much available information on the
Internet, such as at the Dolan DNA Learning Center DNAi Web site.
Established in 1988 as a national resource for molecular biology information,
NCBI creates public databases, conducts research in computational
biology, develops software tools for analyzing genome data, and
disseminates biomedical information to improve the understanding of
molecular processes aff ecting human health and disease. OMIM™ is a
comprehensive compendium of genetic diseases, including their causes,
symptoms, research, and treatments. It is updated daily, and the entries
contain links to other genetics resources. The online version, OMIM™, was
created by collaboration between the National Library of Medicine and the
William H. Welch Medical Library at Johns Hopkins. NCBI developed the
online Web version. Genetic diseases are listed based on what tissues they
aff ect at the “Genes and Disease” link.
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