Introduction

Lucia and David want to have a child. Lucia is concerned, however, because she has a family history of cystic fibrosis. Cystic fibrosis is a genetic disease that causes a constant thick mucous in the respiratory system. This condition sets up severe respiratory infections. Cystic fibrosis also causes trouble in digesting some foods because the pancreas fails to produce the proper enzymes. Lucia worries about passing the disease to her child, even though she herself does not have it. Lucia and David decide to consult a genetic counselor to understand the risk of having a child with cystic fibrosis.

Lucia's Siblings:
Bryant is a 23-year-old graduate student in microbiology. He has cystic fibrosis, although he didn't know this until he as 8 years old. Before that, doctors simply treated him for infection after infection--usually bronchitis or pneumonia. He was terrified of catching a cold, which could land him in the hospital. Bryant also had abdominal pains a few hours after eating, and as a result, he was always severly underweight. Doctors noted a "sensitive stomach" in his chart, lectured his mother on providing proper nutrition, and attributed Bryant's pains to a nervous disposition.

A brother 2 years younger than Bryant named Will was very healthy; but when a sister Katie was born when Bryant was 8, a pattern appeared. Katie, like Bryant, battled very frequent respiratory infections. When as a baby she would scream after eating, doctors at first diagnosed colic and advised switching infant formulas. Nothing helped. When, at two years of age, Katie weighted only 20 pounds, her pediatrician began to put together the symptoms with those of her elder brother. Bryant and Katie were the only family members with the disorder.

Your investigation should include medical information important for people with this disease so that they can live a healthy and prolonged life. This might include:

• a pedigree for the family described
• family members who appear to possibly have the disease
• a prediction of the chances of their offspring having this disease
• the ethical and social issues involved in this particular case for the child and the parents

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Technology Support

Netscape Basics

Here you can find a wealth of helpful information about your Netscape software and how to overcome any problems you might encounter with it.

Finding Information

Finding what you want on the Internet can be like looking for a needle in a haystack. Online search tools help you track down whatever it is you're looking for.

Helpful Exercises

The following exercises were designed to help you understand human genetic diseases, including the medical facts, diagnosis, probable course of the disorder, and the available management. While these exercises are, of course, optional, you are strongly encouraged to complete them:

Guidelines for Reporting and Writing About People with Disabilities

The University of Kansas and other national associations have endorsed a a set of clear guidelines to help you make better choices in terms of language and portrayal. The "Guidelines" explain preferred terminology and offer suggestions for appropriate ways to describe people with disabilities.

Understanding Gene Testing

This represents an effort by the National Cancer Institute and the National Center for Human Genome Research to provide basic information about gene testing and key genetic concepts. This booklet also provides answers to a number of frequently asked questions about the science, potential benefits, and potential risks of gene testing.

Genetic Counseling: Coping With the Human Impact of Genetic Disease

Genetic Consultation/Counseling: The Process

Describes what they do and how they do it.

Genetic Testing-Health Care Issues:An Interview with Dr. Neil Holzman

An excerpt from an interview with Dr. Neil Holzman that took place at the "Winding Your Way through DNA" symposium at the University of California San Francisco in 1992. Dr. Holzman is an M.D. and a health policy expert.

Genetic Conditions/ Rare Conditions: Support Groups & Information

Medical Genetics, University of Kansas Medical Center Professionals, educators, or individuals seeking information on genetic conditions or birth defects may find this list helpful; find additional information through the national and the international organizations listed below; or contact a genetic counselor or clinical geneticist.

OMIM Home Page--Online Mendelian Inheritance in Man

This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information.

Mendelian Genetics, an interactive computer program which covers the main concepts of genetics

Genetic Counseling, March of Dimes Birth Defects Foundation

Newborn Screening

The Virtual Hospital™ uses the World-Wide Web (WWW) software technology to store, organize, and distribute multimedia textbooks including the Clinician's Handbook of Preventive Services.

DOE Primer on Molecular Genetics

This primer was prepared by Denise Casey (Human Genome Management Information System - Oak Ridge National Laboratory) for the1991-92 DOE Human Genome Program Report.

Home Page for Genetic Professionals

Information for genetic professionals at the University of Kansas Medical Center is updated regularly for genetic counselors, clinical geneticists, and medical geneticists with links to a variety of clinical, research and educational resources.

Genetics & Public Issues

The National Center for Genome Resources (NCGR) in Santa Fe, New Mexico is assembling educational and informational resources for the public, physicians and other professionals. This information is selected to help the public direct and make informed decisions about genetic information, technology and services. It is also selected to help industry and policymakers guide the application of genetic research and biotechnology. .

Geneticists & Ethicists Mentor Network,

Teachers and students can send questions to professionals in genetics, law, public policy, and ethics.

 

 

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