BIOLOGY RESEARCH PAPER: Human Genetic Diseases & Disorders

A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception. Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the process which produces reproductive cells such as sperm and eggs. Examples include Down syndrome (extra chromosome 21), Turner Syndrome (45X0) and Klinefelter's syndrome (a male with 2 X chromosomes). Other genetic changes may occur during the production of germ cells by the parent. One example is the triplet expansion repeat mutations which can cause fragile X syndrome or Huntington's disease. Defective genes may also be inherited intact from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Currently about 4,000 genetic disorders are known, with more being discovered. Most disorders are quit rare and affect one person in every several thousands or millions. Cystic fibrosis is one of the most common genetic disorders; around 5% of the population of the United States carry at least one copy of the defective gene. Some types of recessive gene disorder confer an advantage in the heterozygous state in certain environments.

Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients. The study of genetic diseases is a scientific discipline whose theoretical underpinning is based on population genetics.

Project Guidelines: You must address each of the following content areas The Site of the Genetic Changes: - For genetic diseases this may be as simple as a point mutation affecting one amino acid substitution, and a spectrum of protein function and or dysfunction. - For Genetic Syndromes entire sections of chromosomes can be translocated, or there may be an absence of, or extra, echromosomes

The Molecular, Cellular and Tissue Changes:

- Describe the protein or proteins affected and their role in both “normal” and diseased individuals. If information is available, focus on the significant molecular and cellular changes.

The Global Physiological Changes:

- Describe the disease or syndrome in terms of its total impact. Include in your information physical symptoms, anatomical changes, disease progression and life expectancy.

Treatment Options

- Describe current treatment options and if none exist describe research efforts.

The Project

Paper:2-4 pages, Double Spaced, With Complete Ideas. Plagiarism will result in a failure for the Project

Class Presentation: 5-10 minutes , not read from a paper, if you don’t participate you get a zero

Visual Organizer: Power Point and if you choose Poster, Play, Computer Generated Images, WinMovies, Videotape, Game..etc

Grading:

COMPLETENESS: Do you have everything and is it done? /50pts

CREATIVITY: Did you work hard and engage your audience? /50pts

CONTENT: Did you process the information with accuracy? /50pts