Chromosomal disorders are caused by 1) the improper number of chromosomes or 2) defect(s) in chromosome size or composition. Due to the large amount of genetic information that is typically involved, chromosomal abnormalities often result in spontaneous abortion, miscarriage, still birth, or pronounced physical and/or mental deformity in affected individuals.
Inborn genetic diseases are inherited from one or both parents and have no medical cures which usually requires a lifetime of treatment. Single gene genetic diseases generally follow a Mendelian pattern of inheritance but are uncommon to rare in human populations occurring from one in every tens of thousands to one in every tens of millions individuals. Most inherited diseases that ‘run in families’ do not follow a simple inheritance pattern and usually involve multiple genes. Many of these are metabolic since they affect important metabolic pathways and include some chronic diseases such as arthritis, heart disease, and asthma.
As part of your grade for this course, you will be choosing/assigned a genetic disorder and be required to complete information literacy assignments such as accessing and utilizing medically valid electronic and printed resources to research your topic, citing references using the CSE citation style, and composing a research paper.
By the completion of the Genetic Disease activities, students should be able to: