Genetic Disorders and Diseases 

Objective:

Students will  investigate patterns in inheritance and genetics in order to learn about disorders and diseases that are associated with heredity.

Genetic disorders are the harmful effects on an individual caused by inherited genetic diseases or mutations. Usually genetic disorders are recessive, so they are only expressed in a small percentage of the population, but a much larger percentage are carriers. When expressed in the homozygous recessive individual, they often code for the wrong protein or amino acid sequence. There are many genetic disorders; however, two are common in today's population: hemophilia A and sickle-cell anemia. 

Most humans inherit genetic disorders because of the improper functioning of a particular gene sequence. In theory, replacing the defective gene with a healthy one should solve the problem, which is the essence of gene therapy. Although in its infancy as a treatment for disorders such as hemophilia and sickle-cell anemia, patients have received genetically engineered cells as an experimental treatment for missing genes. At this time the data are incomplete regarding the results. Currently, researchers are attempting to engineer cells, usually from bone marrow, to enhance the abilities of immune cells to fight off cancer and resist infection by HIV. This approach may lead to an effective treatment for nonhereditary diseases.

Citation:
Excerpted from The Complete Idiot's Guide to Biology © 2004 by Glen E. Moulton, Ed.D.. All rights reserved including the right of reproduction in whole or in part in any form. Used by arrangement with Alpha Books, a member of Penguin Group (USA) Inc.

Marfan Syndrome

Louis-Bar Syndrome

Werner Syndrome

Marshall Syndrome

Neurofibromatosis Type 1

Hemophilia

Down Syndrome

Sickle Cell Disease 

Cystic Fibrosis

Spinal Muscular Atrophy

Sickle Cell Anemia

Fragile X Syndrome

Tay-Sacs Disease

Turner Syndrome

Huntington's Disease

Rhett Syndrome

Name of disease

Cause

Symptoms

Treatment

Everyday life/ how it affects the person daily

How do they manage?  How do they deal/cope with the disorder?

Statistics (most common in what race/gender/location?)

Three interesting facts about the disease

Pictures/diagrams to help illustrate/explain your disease/disorder

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