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.
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
"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.
- 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
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.
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 trait.
are then exposed to a different perspective of this
condition and have to re-evaluate the inheritance
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.
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
(Sickle Cell Anemia Patient). DE Allen. Thinking
Learning Activities for General Biology. Allen, D.
E. and Duch, B. J. (1998). New York: SaundersCollege 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.
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 York: SaundersCollege 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 York: SaundersCollege Publishing, p.
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 recurringPseudomonas infections. Students also
investigate therapeutic drug therapies and whether their patient
would be a viable candidate.
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
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
Cell Research and Therapeutic Cloning
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. Cancer
"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
"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
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)
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.
"Fountain of youth": Biology 1st Ed. CNN Ed 2003
"Cystic fibrosis": Biology 1st Ed. CNN Ed 2003 (0:00)
"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,
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.
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.
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.
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?
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."
setback: A tragic death clouds the future of an
innovative treatment method". Beardsley, T. Scientific American.
*Access requires subscription.
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. "
for Cancer: Fact Sheet" National Cancer
Institute. This is a helpful information page that introduces gene
therapy definitions and how it can be used.
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
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.
Mitochondrial Myopathies" Muscular Dystrophy Association.
Information page that provides a description of mitochondrial
disease, symptoms, treatments, and heritability.
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.