BI 101 Integration Project
Genetic Disorder Multi-Media Presentation
In this project you will be incorporating your knowledge about cells, DNA, protein synthesis and genetics on a specific genetic
disorder. In teams you will research a specific genetic disorder caused by a point mutation and give an oral presentation using
PowerPoint or Google Docs to explain the genetic disorder. Be creative.
During laboratory you will organize into self-selected teams of two. Each team will select a different genetic disorder upon which to
base an oral and multi-media (PowerPoint/Google Docs) presentation. You may NOT use Tay Sachs as your genetic disorder.
Each person must participate in all aspects of the assignment including the research, PowerPoint and oral presentation. Both
members of the team must be knowledgeable regarding all aspects of the project and be prepared to answer questions about the
presentation. Organize your information in a logical manner. The information in your presentation should be understandable. Do
not use terms you cannot pronounce or do not understand. Ask your instructor for help. The presentation can be a maximum of 8
minutes long!
DUE DATES:
All presentations will be given the last week of the term during lab. You must be present to receive credit for the work. You also
must be present both days for ALL of the presentations or you will receive a 10% reduction on your presentation score. The project
is worth 30 points. All students will do peer reviews during the presentations.
The following must be included in your presentation:
Introduction
1. What is the name of the disorder and what is the history behind the disorder?
2. Image of a person with the disorder or an image of how the disorder affects the body tissues and organs.
3. Has a gene been located that causes the disorder? If so upon which chromosome is it located?
4. Statistics: # of people born with the condition per # of births; occurrence in U.S. and worldwide; specific ethnic groups, places
or genders susceptible to this disorder.
Phenotype Description and Inheritance
1. Clear description of the disorder symptoms (what the person feels) and characteristics such as physical challenges,
personality changes etc.
2. How does the disorder affect a person’s quality of life?
3. What is the prognosis or life expectancy of the individual with the disorder.
4. What is the mortality rate?
5. Explain the genetics of the disorder: describe how the disorder is inherited. Is the disorder autosomal or X-linked? Is it
inherited as a dominant trait, a recessive trait, etc. Is it a DNA deletion/substitution, etc.
6. What would a genetic counselor tell parents who have the disorder or are carriers about the chances of passing on the
disorder to their children?
7. Pedigree to show inheritance within a family.
Normal Gene Function
1. Clearly describe how the normal gene works including what protein is made and the normal role of that protein.
Abnormal Gene Effects
1. Describe the type of mutation involved.
2. Identify where the mutation alters the amino acid sequence.
3. Explain how the gene product (protein) fails to function in its abnormal form.
4. Describe how the abnormal protein function leads to the disease phenotype.
Diagnosis/Treatment
1. How is a person diagnosed with the disorder?
2. Are there treatments for the condition? If so, what are they? What kinds of medicines are used for the symptoms? What
alternative to medicine are offered for the symptoms? Is there a cure for the disorder?
3. What is the current research focus or gene therapy (if any) for this disorder?
4. Provide contact information for at least one organization that can assist the affected person and his or her family.
Implications
1. What are some of the ethical, legal and social implications of being susceptible to or diagnosed with this genetic disorder.
2. Who should have access to your personal genetic information (insurers, employers, courts, schools, adoptions agencies,
military etc.)?
3. How does this disorder affect reproductive decision making and reproductive rights?
4. Should genetic testing be performed when no treatment or cure is available? Should parents have the right to have their
minor children tested for adult-onset disorders?
5. Is their psychological impact and stigmatization due to an individual’s genetic differences?
Bibliography
1. Your bibliography must be in APA format. Check at the library for help or information.
2. Your information must be current and correct.
3. Do NOT copy information from your references. Do not plagiarize.
4. DO NOT use Wikipedia or other “ask” or “encyclopedia” type websites.
5. Cite your sources within your PowerPoint/Poster.
Pre-Approved Genetic Diseases
Beta thalassemia Niemann-Pick Disease Glucose galactose malabsorption
Bloom Syndrome Nijmegen breakage Syndrome Lesch-Nyhan syndrome
Canavan Disease Pendred Syndrome Tangier disease
Cystic Fibrosis Phenylketonuria Retinoblastoma
Glycosylation Type 1a Primary Hyperoxaluria Marfan syndrome
Dihydrolipoamide Dehydrogenase Sickle Cell Anemia Adrenal hyperplasia, congenital
Deficiency Tyrosinemia Inherited breast & Ovarian Cancer
Familial Hyperinsulinism Usher Syndrome BRAC 1 & 2
Familial Dysautonomia Zellweger Syndrome Duchenne muscular dystrophy
Familial Mediterranean Fever Galactosemia Hemophilia
Fanconi Anemia Alpha-1 antitrypsin deficiency Rett syndrome
Gaucher Disease Adenosine deaminase (ada) deficiency Menkes syndrome
Glycogen Storage Disease Huntington’s disease Alport syndrome
Hereditary Fructose Intolerance Severe combined immunodeficiency Myotonic dystrophy
Junctional Epidermolysis Bullosa Smith-lemli-opitz syndrome Congenital Generational Hypertrichosis
Leigh Syndrome pachyonychia congenita (CGH)
Muscular Dystrophy Porphyria Krabbe
Maple Syrup Urine Disease Waardenburg syndrome
Mucolipidosis Type IV Amyotrophic lateral sclerosis
Reference Websites: [Link]
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Instructions modified in part from [Link]
GENETIC DISEASE PRESENTATION RUBRIC
Audience cannot Audience has difficulty Student presents Student presents
Organization understand presentation following presentation information in logical information in logical,
3 points because there is no because student jumps sequence which audience interesting sequence which
sequence of information. around. can follow. audience can follow
Student occasionally uses
Student's graphics explain
Graphics Student uses superfluous graphics that rarely Student's graphics relate to
and reinforce text and
2 points graphics or no graphics support text and text and presentation.
presentation.
presentation.
Student occasionally uses Student maintains eye
Student maintains eye
Student reads all of report eye contact, but still reads contact most of the time
contact with audience,
with no eye contact. most of report. but frequently returns to
seldom returning to notes.
Student mumbles, Student's voice is low. notes.
Delivery incorrectly pronounces Student incorrectly Student's voice is clear.
Student uses a clear voice
5 points and correct, precise
terms, and speaks too pronounces terms. Student pronounces most
pronunciation of terms so
quietly for students in the Audience members have words correctly. Most
that all audience members
back of class to hear. difficulty hearing audience members can
can hear presentation.
presentation. hear presentation.
Student demonstrates full
Student does not have Student is uncomfortable Student is at ease with
knowledge by answering
Subject Knowledge grasp of information; with information and is expected answers to all
all class questions with
5 points student cannot answer able to answer only questions, but fails to
explanations and
questions about subject. rudimentary questions. elaborate.
elaboration.
Mutation type, mode of
Mutation type, mode of Mutation type, mode of
Genetic Profile No explanation of the
inheritance, treatment inheritance and given and
inheritance and treatment
10 points inheritance of the disease given with explanations
given but no explanations explained
and elaboration.
Information Many sources used from
One to two sources from
Several sources given valid, appropriate sites
Sources No sources given questionable sites such as
from valid sites including research and
5 points Wikipedia
educational sites
