Genetic Disorders

WebQuest

West Branch High School Biology

Instructor: Mrs. Wagner

 

Introduction

There are nearly 4,000 genetic diseases that affect human beings. Genetic diseases result when normal DNA (deoxyribonucleic acid) is altered in some way. Because the DNA is replicated and passed on to every cell in our bodies, altered DNA can be passed on from generation to generation.

Some genetic diseases, such as Turner Syndrome and Down Syndrome, result by means of non-disjunction, where there is a problem in the creation of the sex cells by the parents. The egg or sperm receive extra chromosomes or are lacking the total number of chromosomes.

Many others, such as albinism and phenylketonuria, are a result of a mutation that is passed on.

Whatever the cause of the mistake, altered DNA cannot properly code for the specific protein that it intended to make. When the proteins are absent or malformed, a genetic disease is the result. For example, individuals afflicted with Phenylketonuria cannot make the enzyme phenylalanine hydroxylase that breaks down the amino acid phenylalanine. Phenylalanine is found in some foods, and if not broken down properly, it can lead to consequences (that you will soon research).

Task

Your task is to learn more about a specific disease that your instructor assigns to you. You will gain a greater understanding as to why the disease happens, what symptoms are associated with the disease, an how it would feel to be a person afflicted with the disease. The genetic diseases to be researched by the class include the following:

Down Syndrome

Cystic Fibrosis

Sickle Cell Anemia

Phenylketonuria

Marfan Syndrome

Albinism

Hemophilia

Huctchison-Gilford Progeria

Huntington Disease

Achondroplasia

 

The class will be divided into groups of three and you will be assigned one of the three perspectives in which to view the disease: The geneticist, the physician, and the patient.

 

  The Geneticist is the highly trained professional who has the task of gathering information on the genetics behind the disease. The geneticist must answer the following questions in their research:

1.   What is the genetic basis of this disease? (Is it a deletion, non-dysjunction,?)

  1. How is this disease inherited? (Is it dominant, recessive,?)

3.   How prevalent is this disease in the population? (Include statistics)

4.   What are the chances of the parents of the afflicted person having another child with the same genetic disorder? (Give all possible scenarios and percentages if applicable)

  The Physician is the professional who has the task of gathering information about the effect the disease has on the human body and how it might be treated. The physician must answer the following questions in their research:

1.   How is this disease diagnosed? (What protein is not produced or is defective?)

  1. What are the physical symptoms of the disease?

  1. What are treatment options for this disease? (Drugs, gene therapy,?)

4.   What is the life expectancy of someone with this disease?

 

  The Patient is the person who has the most difficult job: enduring life with the genetic disease. The task of the patient is to express to others how being born with a genetic disease affects his or her life. The patient must answer the following questions in their research:

1.   What is everyday life like? (What are the treatments like, drug regimens,?)

  1. How do you feel physically and mentally? (How does this disease affect your mental and physical heath?)

3.   What limitations does this disease place on everyday life?

4.   How do you feel about your future prognosis? Are you hopeful for a cure?

 

Process

Each person in the group will find out the information requested by researching on the web. Helpful sites to get you started can be found in the resources section below. Research time: one week

Once you have thoroughly researched the assigned disease, the geneticist, doctor, and patient will meet in class to discuss the disease and compare notes. At this time, the group will create a fact sheet about the disease and type it out to give to their instructor. Meeting time: one class period

Each individual member of the group must now compile the information that they gathered into a creative form that can communicate their message clearly to their classmates. Some ideas include:

PowerPoint presentation (highly encouraged!)

Informative poster

Written report

Poem (may be expressive from the patient!)

All members of the group must include at least one picture, photograph, or illustration for the disease. If the disease presents itself physically, please include at least one picture of a person afflicted with the disease. If you can illustrate chemically what happened to the DNA or the protein, it should be included. Example: (Sickle-cell hemoglobin vs. normal hemoglobin). Production time: one week

Your disease group will reconvene to present your information to the class. The geneticist, doctor, and patient will each present their point of view of the disease to the class, and entertain any questions from classmates or your instructor. Be Prepared! Total presentation time: about fifteen minutes

 

Resources

Some helpful sites include:

http://www.hhmi.org/GeneticTrail/

http://www.geneclinics.org/

http://www.icomm.ca/geneinfo/def-l.htm

http://mcrcr2.med.nyu.edu/murphp01/homenew.htm

Everyone check out the site below, it was created by a child with a genetic disease. It will help you see a child's view of a genetic disease:

http://mcrcr2.med.nyu.edu/murphp01/taryn/tarynhom.htm

 

Evaluation

Each student will earn an individual grade for their particular role in the project. Below you will find rubrics for the geneticist, the doctor, and the patient.

The Geneticist

Points

0

1

2

3

Genetic basis explained?

No explanation given

Very little information

Most details of genetics given

Complete genetics given

Inheritance explained?

No inheritance given

Partial inheritance

Mostly correct inheritance

Correct pattern of inheritance

Prevalence in population?

No statistics

Incorrect statistics

Incomplete statistics

Complete statistics

Chances of passing it on?

No calculations or probabilities

Incorrect calculations

Mostly correct calculations

Correct calculations

PowerPoint/poster/report?

No attempt made

Very little effort put forth

Info clearly reported

Creative, neat, much effort

Visual aid?

No visual aid

One picture or drawing

Colorful picture or drawing

Excellent pictures

Oral presentation?

No attempt made

Stumbling, low knowledge

Knows facts and communicates

High level of communication

Overall knowledge?

Could not answer question

Could answer some

Answers most questions

Answers most questions well

 

The Physician

Points

0

1

2

3

Diagnosis Explained?

No diagnosis

Incorrect or partial diagnosis

Mostly accurate diagnosis

Complete diagnosis

Symptoms explained?

No explanation of symptoms

Incorrect or partial symptoms

Most symptoms given

All symptoms explained

Treatments?

No treatment given

Incorrect or partial treatment

Most treatments given

All possible treatments

Life Expectancy?

No information

Inaccurate information

Mostly correct info

Correct expectancy

PowerPoint/poster/report?

No attempt made

Very little effort put forth

Info clearly reported

Creative, neat, much effort

Visual aid?

No visual aid

One picture or drawing

Colorful picture or drawing

Excellent pictures

Oral presentation?

No attempt made

Stumbling, low knowledge

Knows facts and communicates

High level of communication

Overall knowledge?

Could not answer question

Could answer some

Answers most questions

Answers most questions well

 

The Patient

Points

0

1

2

3

Everyday life?

No information

Very little information given

Good insight into life

Excellent descriptions

Physical/mental condition?

No information

Very little insight

Nice details on feelings

Much insight on feelings

Limitations?

No information

Few limitations given

Most limitations given

All limitations given

Future Prognosis?

No information

Little effort or incorrect

Good ideas on future

Very good ideas given

PowerPoint/poster/report?

No attempt made

Very little effort put forth

Info clearly reported

Creative, neat, much effort

Visual aid?

No visual aid

One picture or drawing

Colorful picture or drawing

Excellent pictures

Oral presentation?

No attempt made

Stumbling, low knowledge

Knows facts and communicates

High level of communication

Overall knowledge?

Could not answer question

Could answer some

Answers most questions

Answers most questions well

Scoring: Each person can earn 24 total points. Example: If you earn 21 points out of 24, your grade would be 21/24 = 0.875 or 87.5% B.

Message from Mrs. Wagner:

Have fun and be creative with this project! I hope that when completed with this project you have gained insight on genetic diseases, how it can feel to be affected by one, and can see some hope in the future for curing these diseases!