Genetics and Disease

Problems/Case Studies
Genetic Disorders:

"The Case of Eric, Lou Gehrig's Disease, and Stem Cell Research", Elizabeth R. McCain, Muhlenberg College. State University of New York at Buffalo's National Center for Case Study Teaching.
Thirty-one-year-old Eric has begun to show signs of the debilitating and fatal neuromuscular disease, amyotrophic lateral sclerosis, also known as Lou Gehrig's disease. Students follow Eric as he is examined by his physician and then a specialist, undergoes a series of tests, and eventually is given the devastating prognosis. He is also given the news that a group of prominent scientists has begun human trials with embryonic stem cell therapy, which may offer a possible cure for his condition, and that he can participate in the experiment if he wishes. Students research and then prepare oral presentations on the perspectives of a variety of experts Eric might wish to consult as he weighs the science and ethics of his decision.
This case is appropriate for high school biology classes, and college undergraduate cell biology and biotechnology courses.

"Sometimes it is All in the Genes". Anne Galbraith and David Howard, University of Wisconsin, La Crosse. State University of New York at Buffalo's National Center for Case Study Teaching.
This case introduces students to the scientific and ethical issues surrounding the genetic disorder, cystic fibrosis. Nancy, five months pregnant, agrees to a routine genetic test that indicates she carries the mutation for the fatal disease. She convinces her husband to get tested and discovers that he too is a carrier. Knowing there is a 25 percent chance their unborn child may have the disease, they must decide what to do.
This case is appropriate for college undergraduate general biology, general medicine, and genetics/heredity courses.

"Sickle Cell Anemia". Debra Stamper, King's College. State University of New York at Buffalo's National Center for Case Study Teaching.
In this case study on sickle cell anemia, students are introduced to some of the key investigators responsible for determining the molecular basis of the disease and learn about the functioning of erythrocytes as well as the notion that changes in the environment can influence the functioning of cells.
This case is appropriate for high school and college undergraduate biochemistry, cell biology, molecular biology, and general medicine courses.

"Kim Davis - Can A Genetic Disease Be Cured? A Mother's Dilemma". Michael S. Hudecki, University at Buffalo. State University of New York at Buffalo's National Center for Case Study Teaching.
In this discussion case, parents must decide whether or not to enroll their sons in an experimental treatment program designed to alleviate the symptoms of muscular dystrophy. The case explores the genetics and physiology of the disease as well as the issues involved with pharmaceutical research.

"Directed Case Study: The Death of Baby Pierre - A Genetic Mystery". Clyde F. Herreid, University at Buffalo. State University of New York at Buffalo's National Center for Case Study Teaching.
This directed case study on a genetic disorder was developed for an exam on genetics in a course in general biology.
This case is appropriate for high school and college undergraduate genetics/heredity, general biology, and evolutionary biology courses.

"Those Old Kentucky Blues". Celeste A. Leander University of British Columbia and Robert J. Huskey University of Virginia. The National Center for Case Study Teaching in Science.
This interrupted case study begins with the construction of a pedigree following an initial encounter with a clan of "blue people".  After constructing a pedigree, students decide whether the condition (methemoglobinemia) is a heritable traitStudents are then exposed to a different perspective of this condition and have to re-evaluate the inheritance pattern. 
This case study was written for a first year honors course in general biology.  It could be modified for most general science majors' biology, genetics, biochemistry, and cell biology courses.

"Immunological Malfunction?" Karen A. Pinco, Westfield State College. The National Center for Case Study Teaching in Science.
This problem-based case study was developed to complement the study of the immune system and to emphasize the crosstalk that occurs at the cellular level between B and T cells for proper immune system function. In reading the story of a young couple trying to understand the cause of their infant boy's constant bacterial infections, students will review the different classes of antibodies, their specific functions, and how they arise through isotope switching. Additionally, students will apply their knowledge of basic genetics as they examine how X-linked disorders are passed along and the role of genetic counselors in medicine.
This case is appropriate for high school and college undergraduate genetics/heredity and physiology courses.

"Jimmy Harris" (Sickle Cell Anemia Patient).  DE Allen.  Thinking Toward Solutions:  Problem-Based Learning Activities for General Biology.  Allen, D. E. and Duch, B. J. (1998).   New YorkSaunders College Publishing.  

            Stage 1:  Jimmy Harris is an 8-year-old African American boy brought to the emergency room.  Pale, jaundiced, and passing dark red urine.  Elevated levels of methemoglobin in the blood, presence of Heinz bodies, and hemoglobinemia and hemogloniuria.  Among other symptoms, students analyze the lab test results and how the effects of swallowing moth balls was influenced by his condition.

            Stage 2:  The students investigate inheritance patterns of family pedigrees, genetic disorders, and precautions for future generations.

"To Be Tested or Not To Be Tested".  LK Dion.  Thinking Toward Solutions:  Problem-Based Learning Activities for General Biology.   Allen, D. E. and Duch, B. J. (1998).   New YorkSaunders College Publishing.
Students research Huntington's disease assessing if the mutation makes any difference in a person's phenotype, the amino acids repeated in proteins, and how such a mutation may occur.

"A Problem with Pore Behavior".  DE Allen.  Thinking Toward Solutions:  Problem-Based Learning Activities for General Biology.  Allen, D. E. and Duch, B. J. (1998).   New YorkSaunders College Publishing, p. 59-62. 

        Stage 1:  Students take the role of a doctor, it is their job to diagnose the patient who suffers from a genetic disease with the symptom of recurring Pseudomonas infections.  Students also investigate therapeutic drug therapies and whether their patient would be a viable candidate.

        Stage 2: A hypothetical group, the National Organization for Negative Eugenics, comes to you for your patient to be tested.  The students weigh options of removing harmful alleles from the gene pool and the ethics of genetic testing.

Online Videos

Cracking the Code of Life.  NOVA
This two-hour program looks at the DNA code, mutations, and efforts to treat and prevent the mutations.
Chapter 1 - Instructions for a human being
Chapter 2 - Getting the letters out
Chapter 3 - One wrong letter
Chapter 4 - The sequencing race begins
Chapter 5 - Ramping up
Chapter 6 - Genetic variation
Chapter 7 - Who owns the genome?
Chapter 8 - The business of science
Chapter 9 - Finding cures is hard
Chapter 10 - Complexity in proteins
Chapter 11- The finish line
Chapter 12 - Finding disease genes
Chapter 13 - DNA databases
Chapter 14 - A family disease
Chapter 15 - Genetic modification
Chapter 16 - Contemplating the message

Teaching Resources
Embryonic Stem Cell Research and Therapeutic Cloning

"A Search for the Right Answer: Fetal Tissue Research and Parkinson's Disease" Anne Fourtner, Charles Fourtner, and Clyde Herreid, University at Buffalo. State University of New York at Buffalo's National Center for Case Study Teaching.  In this role-playing case study on Parkinson's disease, students learn about brain injury and brain repair mechanisms, the physical and psychological effects of a degenerative disease on a patient and her family, the ethical questions surrounding the use of fetal tissue in research programs, and the sociological implications of an aging population.


"Not an Old Person's Disease". Jennifer Miskowski and Anne Galbraith, University of Wisconsin, La Crosse. State University of New York at Buffalo's National Center for Case Study Teaching
Judy, 20 years old, fair-haired and fair-skinned, covets the kind of suntan her friend Mariah seems to be able to get effortlessly while all Judy has to show for the hours she spends broiling in the sun is a bad sunburn. While sunbathing one day Judy notices that a mole on her leg has started to itch. Not only that, it looks different. She goes to her doctor, who recommends a biopsy to determine if the mole is malignant or benign. The overall goal of this case is to introduce students to the genetic basis of cancer development while teaching them about melanoma.

CNN Video Clips

"Mapping Chromosomes": Biology 5th Ed. CNN Ed 2001 (1:52)

The mapping of chromosome 21 surprised scientists by revealing a mere 225 genes.  As the human genome is mapped, estimates of the total number of human genes have been revised downward.  Chromosome 21 plays a role in Alzheimer's disease, Lou Gehrig's disease, and Down's Syndrome.  By comparing the action of genes in normal individuals with that of genes in people with Down's Syndrome, researchers hope to determine which genes cause the detrimental effects associated with this chromosomal disorder. (Student worksheet provided on CD)

"Legacy of Agent Orange": Biology 5th Ed. CNN Ed 2001 (2:47)
Approximately 100,000 Americans were exposed to the herbicide Agent Orange during the Vietnam War.  A new study suggests that their offspring are at an increased risk for chronic myelogenous leukemia.  The study has been criticized for relying on self-reporting to determine Agent Orange exposure.  However, exposure to Agent Orange has already been linked to increased risk for three forms of cancer and to adult-onset diabetes.  In addition, it as been shown to increase the risk of spina bifida among offspring.  The worksheet includes the URL for the Veteran's Administration Agent Orange web pages. (Student worksheet provided on CD)

"Genetics, Alcohol and Heart Disease": Biology 5th Ed. CNN Ed 2001 (1:47)
A Harvard University study has shown that moderate drinking is particularly good for people with a certain genotype.  People homozygous for a variant allele for alcohol dehydrogenase metabolize alcohol more slowly than others.  This genotype occurs in about 1 in 6 Caucasians, but is rare in African Americans and Asians.  In the future, physicians may be able to make specific behavioral recommendations based on a patient's genetic make-up.  The study was reported in the New England Journal of Medicine, and the worksheet includes the URL for the journal web site, where an abstract of the article is available. (Student worksheet provided on CD)

"Progeria Gene": Biology 8th Ed. CNN Ed 2004 (2:40)
At age six, Sam Burns, who suffers from progeria, may already have lived half his life. This genetic disorder causes cardiovascular problems, and affected children survive an average of 13 years. The disorder is rare. At any given time, there are about 12 children with progeria living in the United States. Worldwide, only about 100 cases have ever been documented. Affected children appear normal at birth, but within months they begin to show symptoms of accelerated aging. It has recently been discovered that progeria is caused by a single base substitution in a gene on chromosome 1. The discovery may help shed light on normal aging, allow development of a test for the disorder, and perhaps one day lead to treatments and a cure. The worksheet includes the URL for the website of the Progeria Research Foundation. (Student worksheet provided on CD)

"Silent Strokes": Biology 5th Ed. CNN Ed 2001 (2:12)
Researchers estimate that each year 11 million Americans suffer undiagnosed strokes.  These "silent" strokes don't produce any immediately obvious impairment, but they can have cumulative effects on mental function.  Physicians diagnose silent strokes only after the fact, by examining the results of a brain scan.  Risk factors for strokes include a family history, high blood pressure, high cholesterol, and smoking. (Student worksheet provided on CD)

"Conquering Depression": Biology 7th Ed. CNN Ed 2003 (3:10)
A woman who suffered from depression describes her symptoms.  If untreated about 15 percent of those suffering from depression will kill themselves.  Treatments include antidepressant drugs and talk therapy. Electroconvulsive therapy (ECT) successfully treats many with severe depression, but causes amnesia.  The newest treatment involves application of strong magnetic fields to the skull.  Results are similar to those for ECT but without the amnesia. (Student worksheet provided on CD)

Topic:  "Is aging treatable?":  Biology 8th Ed. CNN Ed 2004 (2:25)

An ongoing study is designed to gauge the effect of drastic caloric reduction on human aging. The study was inspired by the results of similar dietary restriction studies in primates. The animals lived longer and maintained more youthful hormone levels and immune function. What could explain these effects? With low caloric intake, cells throughout the body seem to die more slowly and repair themselves more easily. Also, fat around the stomach increases the chances of getting cancer and heart disease. One participant in the human study, now in her forties, says she joined the National Calorie Study because she is interested in being a healthy senior. She has cut her caloric intake, and researchers will be monitoring how her body responds over the course of a year. The worksheet includes the URL of a Why Files feature describing the primate studies on which the human trials are based.

Topic:  "Fountain of youth":  Biology 1st Ed. CNN Ed 2003 (0:00). 

Topic:  "Cystic fibrosis":  Biology 1st Ed. CNN Ed 2003 (0:00)

Topic:  "P53 gene therapy":  Biology 1st Ed. CNN Ed 2003 (0:00)

Topic:  "Muscular dystrophy":  Biology 1st Ed. CNN Ed 2003 (0:00)

Articles filed in resource cabinet outside SCIC #.  Filed by subject heading and topic.

"Too Much Bleeding: The Perils of Hemophilia" Noonan, David. Blood: Bearer of Life and Death. A report from the Howard Hughes Medical Institute. 1993. Pg. 35-44.
This article details the different forms of hemophilia, how it is inherited, and the many ways that researchers have been working towards a cure for decades. Researchers have isolated the factor VIII gene and discovered it is very large, which accounts for why there can be so many mutations in the gene. They have found point mutations as well as deletions as the two types of mutations that can cause hemophilia A. Molecular techniques are allowing researchers to develop new and improved treatments as well as being able to diagnose the disorder prenatally.

"A gifted young patient seeks his own genetic flaw".  Maya Pines.  Blazing a genetic trail.  Howard Hughes Medical Institute, 1991.
Jeff Pinard researches cystic fibrosis, his own genetic flaw.  CF is caused by a missing piece of DNA.  The article describes Pinard's quest to research the disorder. 

"Walking and Jumping toward the gene"
Maya Pines.  Blazing a genetic trail.  Howard Hughes Medical Institute, 1991. 
The article explains the research technique of reverse genetics in which a gene is isolated and then the phenotypes are discovered.  The article bases the research on the search for the gene that causes cystic fibrosis.  Finally, gene therapy for CF is described. 

"Of mice and men". Sandra Blakeslee. Howard Hughes Medical Institute, 1991.
The article describes the use of mice as model organisms for such diseases as diabetes and immunodeficiency disorders that can be used in AIDS research.  Transgenic mice are also introduced with the promise of new knowledge of gene function.

"Gene therapy rids 2 of melanoma".  Sept 1, 2006 Karen Kaplan from Los Angeles Times in Post and Courier .
Scientists have genetically modified tumor-fighting immune cells that rids patients of melanoma. The gene therapy boosts the body's immune system and does not rely on chemotherapy.   Two patients are cancer free after using the gene therapy.This therapy may also be used for breast, prostate, lung, colorectal and other common diseases.   

PubMed articles for Cystic Fibrosis

This webpage offers multiple PubMed articles relating to gene therapy treatment methods for cystic fibrosis such as gene transfer.

Progress of somatic gene therapy on the example of cystic fibrosis
"In Western and Middle Europe, mucoviscidosis is one of the most frequent genetically caused metabolic diseases. 4% of the population are carriers of the defected gene in a heterozygous state, that is they are not ill themselves. Statistically, one of four children whose parents are both carriers of the defected gene may get ill with mucoviscidosis. Mucoviscidosis is a monogenic - caused on alterations of a single gene - disease and is transmitted autosomal-recessively.  The disease is characterised by malfunctions of vital glands and may be accompanied by heavy symptoms already in early childhood. The glands are producing a viscous mucus that can not flow out, plugs the exits of the glands and thus impairs the glands in the course of time. Especially the lungs are heavily affected. The mucus produced in the bronchial tubes plugs the respiratory system and causes breathlessness and malfunction of the lung tissue in the affected patients. Furthermore, the mucus is a good medium for bacteria and therefore patients often suffer from chronic inflammation."  Molecular causes of the disease and gene therapy methods are introduced as well.

Gene therapy in the womb.  December 2000. 
The article introduces two sides to the debate of in-utero gene therapy.  If scientists gain too much control over the human genome, havoc could be made.  However, if the lives of children can be improved or saved, why not embrace the technology?

"In utero gene therapy:  The case for".  Schneider, H. and Coutelle, C.  Nature Medicine 5:  256-257, 1999.  
"No patient has been cured so far by gene therapy, so why discuss a prenatal approach? First, for many conditions, postnatal gene therapy may not be delivered in time to avoid irreversible disease manifestation. In contrast, supplementation of a therapeutic gene in utero may prevent the original onset of disease pathology1. Second, a developing fetus may be more amenable to uptake and permanent integration of foreign DNA. Still-expanding stem-cell populations of organs inaccessible later in life may also be targetable during certain earlier stages of development. Third, although the fetal immune system already has the potential to respond to intrauterine infections in the second trimester of pregnancy, it is not completely developed until several months after birth. This functional immaturity may permit the induction of immune tolerance against vector and transgene. Finally, as ultrasound-guided diagnostic procedures during the human pregnancy are well established, gene delivery to the fetus could be accomplished with limited invasion and trauma. Thus, it does not seem necessary to delay prenatal studies until gene therapy has proven clinically successful in adults."

"Gene therapy setback:  A tragic death clouds the future of an innovative treatment method".  Beardsley, T.  Scientific American.  February 2000. 
*Access requires subscription. 
"Eighteen-year-old Jesse Gelsinger died at the University of Pennsylvania last September 17, four days after receiving a relatively high dose of an experimental gene therapy, a novel and unproved technique that aims to correct genetic diseases and other conditions. Gelsinger's death was apparently the result of an overwhelming immune reaction to the engineered adenovirus that researchers had infused into his liver. He died of acute respiratory distress syndrome and multiple-organ failure. "

"Gene therapy for Cancer:  Fact Sheet"  National Cancer Institute. 
This is a helpful information page that introduces gene therapy definitions and how it can be used.

"What are some recent developments in gene therapy research?".  Human Genome Project Information.  
The page looks at recent gene therapy developments, ethical considerations, and multiple links for further research.

"Gene therapy treatment may offer relief for cystic fibrosis patients".  Conger, K.  Stanford Report, October 9, 2002. 

"Researchers at the medical center have shown for the first time that gene therapy techniques may one day help patients with cystic fibrosis, a life-threatening inherited disease characterized by thick mucus buildup in the lungs. The mucus hampers breathing, fosters deadly infections, and causes ongoing lung damage. Patients who inhaled particles of a virus engineered to express a gene to correct the condition exhibited a significant, but temporary, clearing of their lungs after the first of three monthly treatments."

"Mitochondrial Disease: Website" United Mitochondrial Disease Foundation.
Provides descriptions and information on mitochondrial disease, as well as information for scientists, researchers, and physicians with regard to diagnosis and further study.

"Facts About Mitochondrial Myopathies" Muscular Dystrophy Association.
Information page that provides a description of mitochondrial disease, symptoms, treatments, and heritability.

"Center for Gene Therapy for Cystic Fibrosis and Other Genetic Diseases" University of Iowa Center for Gene Therapy.
"The Iowa Center for Gene Therapy promotes research and training in molecular medicine with a focus on translational research using gene therapy approaches to treat inherited and acquired diseases."

"Gene Therapy for Cancer: Questions and Answers" National Cancer Institute.
Provides answers to various questions regarding genes and gene therapy.

"Woman's death raises gene therapy questions". Carla Johnson and Lindsey Tanner: Post and Courier (Sept. 16, 2007) -Available in PBL resource cabinet in SCIC outside room 207
Jolee Mohr's death after experimental gene therapy treatment raises questions about it's benefits and risks.