Genetic Disorder Research Project
Learning Goals:
1) I can describe how my selected genetic disorder is caused by chromosomal abnormalities.
2) I can describe how genetic technologies are involved in the diagnosis, treatment and possible prevention of my
selected genetic disorder.
3) I can identify the social and ethical implications of research in genetics and genomics.
Task: Choose a genetic disorder from the list below. If you would like a disorder not listed, please have it approved first.
You can create either a Prezi, Powerpoint, brochure, poster or video on your specific disorder.
Topics:
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
Huntington disease
Cystic fibrosis
Sickle cell anemia
Retinoblastoma
Marfan syndrome
Tay-Sachs disease
Neimann-Pick disease
Patau syndrome
Duchenne Muscular Dystrophy
Polydactyly
Prader-Willi syndrome
Maple syrup urine disease
X-linked severe combined
immunodeficiency (SCID)
14. X-linked hypophosphatemia
15. Adrenoleukodystrophy
16. Edward’s syndrome
17.
18.
19.
20.
21.
22.
23.
24.
25.
26.
27.
28.
29.
30.
31.
Jacobs syndrome
Triple X syndrome
Charcot Marie-Tooth disease
Chronic Myelogenous Leukemia
Williams syndrome
Angelman syndrome
Galactosemia
Albinism
Usher syndrome
Familial dysautonomia
Pachyonychia congenital
Brachydactyly
Phenylketonuria
Lesch-Nyhan syndrome
http://www.genome.gov/10001204
Your project must include the following information:
1. How is the disorder inherited (autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, trisomy,
monosomy, deletion, duplication, inversion, translocation)? Is it a dominant trait, a recessive trait, a problem with the
number of chromosomes or something else? Explain fully.
2. When and how (i.e. genetic technologies) is your disorder diagnosed?
3. What are the specific symptoms of your genetic disorder? Include all the major symptoms.
4. What is the incidence of your disorder?
5. Is there a certain race it is most common in? Is it more common in men or women?
6. How long is the average life span of a person with this disorder?
7. What is the treatment for this disorder and how effective is the treatment? If no treatment is available, what can be done
for a person with this disorder? Include any applicable genetic technologies.
8. What ethical and social implications may arise from the use of genetics technologies in the diagnosis, treatment and/or
prevention of your genetic disorder? For example, what are the ethical implications of prenatal screening, stem cell
research, gene therapy, etc.)
9. In the future, how might genetic technologies be used more effectively in the diagnosis, treatment and prevention of your
disorder? What obstacles will have to be overcome in order for this to take place?
10. Include a Works Cited using APA format. You must have a minimum of 3 reputable sources (e.g. GALE database).
Student Name:_____________________________ Topic:____________________________________
Criteria
Knowledge and
Understanding
Questions 1 - 7
Application
Question 8
Thinking and
Inquiry
Question 9
Communication
Level 4
Level 3
Level 2
Level 1
Information accurately
describes the
appropriate genetic
disorder. Information
thoroughly answers all
the questions with
several supporting
details and/or examples.
Information clearly
describes the
appropriate genetic
disorder. Information
answers all the questions
with supporting details
and/or examples.
Information somewhat
describes the
appropriate genetic
disorder. Information
was included to answer
most of the required
questions.
Information describes
the genetic disorder with
limited detail.
Information was
included to answer a few
of the required questions.
The ethical and social
implications are
thoroughly connected to
the genetic disorder.
Several supporting
details and/or examples
were provided.
The ethical and social
implications are
reasonably connected to
the genetic disorder.
Supporting details
and/or examples were
provided.
The ethical and social
implications are
somewhat connected to
the genetic disorder.
Minimal supporting
details and/or examples
were provided.
The ethical and social
implications are weakly
connected to the genetic
disorder. Supporting
details and/or examples
were lacking.
Predictions related to the
future of genetic
technologies
demonstrate remarkable
insight and innovation.
Predictions related to the
future of genetic
technologies
demonstrate
considerable insight and
innovation.
Predictions related to the
future of genetic
technologies
demonstrate some
insight and innovation.
Predictions related to the
future of genetic
technologies
demonstrate limited to
no insight and
innovation.
Expresses and organizes
ideas and information
with a high degree of
effectiveness.
Expresses and organizes
ideas and information
with considerable
effectiveness.
Expresses and organizes
ideas and information
with some effectiveness.
Expresses and organizes
ideas and information
with limited
effectiveness.
No errors in language
conventions, vocabulary,
spelling and/or
terminologies.
Minimal errors in
language conventions,
vocabulary, spelling
and/or terminologies.
Several errors in
language conventions,
vocabulary, spelling
and/or terminologies.
Many errors in language
conventions, vocabulary,
spelling and/or
terminologies.
Works cited is complete
with 3 or more reputable
sources.
Works cited is complete
with 3 reputable sources.
Works cited is complete
with less than 3
reputable sources.
Works cited is
incomplete.