Name: _________________________________________________ Period: _____ Due January 31, 2011!
Genetic Disorder Project
Most people are born with a perfect set of traits; however, sometimes the chromosome they receive from a parent
carries a gene that produces a genetic disorder.
For this project, you will take on the role of a genetic counselor. A genetic counselor is a medical professional who
discusses with patients at risk of an inherited disorder and advises on the consequences and nature of the disorder, the
probability of developing or transmitting it, and the options open to them in management and family planning.
You will research one of the following disorders and complete several tasks that a genetic counselor would likely do
prior to meeting with a patient. The final project will represent your doctor’s notes.
Achondroplasia (dwarfism) Cystic Fibrosis Huntington’s Disease Tay-Sachs Disease
Color Blindness Hemophilia Sickle Cell Anemia
Research Paper (40 points)
2-3 paragraphs, typed
3 properly cited sources
Disease Information
o Symptoms
o Life span of patient
o Treatment options
o Life-style options
o Estimated global population with the disorder
Answer the following questions:
o Is there a famous person (athlete, actor, politician, etc.) who has been affected with this disease? If so,
how (they have it, child has it, etc.)?
o Why a couple can have only four children, all of which have this disorder?
o What would you do when discussing options with your patient if they are planning to have children?
Genetic Counselor Tasks (60 points)
Develop a pedigree for your patient’s family (see example)
o At least 5 generations
o At least 3 affected individuals
o Your patient should be in the newest generation and either
have the disorder or be a carrier for the disorder
Develop a Punnett square for each generation
o This should demonstrate how the trait is transferred to each
generation
o Include the phenotypic and genotypic ratios