SBI 3U Unit 2 project: Genetic disorders research (40 marks)
There are many heritable human genetic disorders. Their effects range from mild to severe. To reduce the negative consequences of such a disorder, it is critical that scientists understand the pattern of inheritance, its precise genetic cause, and options for treatment. It is equally important that such scientific understanding be shared with the individuals and families involved (Figure 1).
In this Unit Task you will investigate a genetic disorder. You will conduct research on the disorder and describe its characteristics in a written report.
Figure 1 Image: Two pictures, the first one shows a doctor speaking with a couple and explaining about their genetic profile, the second picture shows medical files.
Purpose
You will investigate a genetic disorder and research its characteristics and current options for treatment.
Procedure
Part A: Inheritance and Diagnosis
1. Choose a genetic disorder from section 5.5 of this chapter (or one of your choice but it must be approved by the teacher).
2. Determine how the genetic disorder is inherited. For example, is it autosomal recessive or dominant, or is it a sex-linked trait?
3. Determine how the disorder is diagnosed.
Part B: Genetics and Pathology
4. Use the Internet and other sources to research what is known about the specific genetic cause of the disorder. Look for information to answer the following: (a) What specific gene is responsible for this disorder? (b) On what chromosome is the gene located? (c) What is the function of the gene? What protein does it normally code for?
5. Research the effects of the genetic disorder. How does the genetic disorder influence the health of the individual? If possible, explain how the disorder accounts for the known symptoms.
Part C: Treatment
6. Research current options for treatment. Note any benefits and risks involved in these methods.
Part D: Medical Report
7. Prepare a report that summarizes your findings from Parts A, B, and C. The report should be written in a form suitable for sharing with an affected individual and family members.
Consider the best way to present the information. For example, a karyotype or pedigree chart.
ASSESSMENT CHECKLIST
Your completed Unit Task will be assessed using the following criteria:
Knowledge/Understanding
- your ability to understand the pattern of inheritance of a genetic disorder - your ability to understand the relationship between a mutated gene and an inherited disorder
Thinking/Investigation
- your ability to synthesize information from a variety of sources - your ability to consider and evaluate a number of options, based on the accuracy and currency of information from various sources
Communication
- the organization and clarity of the information in your consultation report - the effectiveness of your written and oral presentations
Application
- the quality of your assessment of the options available to the individual and family - your ability to describe a genetic disorder, in terms of physical effects and treatments
Marking Scheme
3U: Genetic Disorder Report
Total: 30 Marks
Format [C] (Total /4) 1. title page /1 2. references /3
Information (Total /20) 1. Part A: Inheritance and Diagnosis [T/I] /5 2. Part B: Genetics and Pathology [K/U] /5 3. Part C: Treatment [K/U] /5 4. Part D: Medical Report [A] /5
3U Unit 2 Oral Presentation
NAME: _
Total: 10 marks Clarity and Vocabulary (Total /7):
Introduces topic clearly and precisely /1
Speaks clearly and enunciates. /1
Displays knowledge of the disorder. (Does NOT read.) /2
Presents cause, symptoms and treatment for the disorder /3
Creativity (Total /3)__:
Describes the disorder in an informative and interesting manner. /3
There are many heritable human genetic disorders. Their effects range from mild to severe. To reduce the negative consequences of such a disorder, it is critical that scientists understand the pattern of inheritance, its precise genetic cause, and options for treatment. It is equally important that such scientific understanding be shared with the individuals and families involved (Figure 1).
In this Unit Task you will investigate a genetic disorder. You will conduct research on the disorder and describe its characteristics in a written report.
Figure 1
Image: Two pictures, the first one shows a doctor speaking with a couple and explaining about their genetic profile, the second picture shows medical files.
Purpose
You will investigate a genetic disorder and research its characteristics and current options for treatment.
Procedure
Part A: Inheritance and Diagnosis
1. Choose a genetic disorder from section 5.5 of this chapter (or one of your choice but it must be approved by the teacher).
2. Determine how the genetic disorder is inherited. For example, is it autosomal recessive or dominant, or is it a sex-linked trait?
3. Determine how the disorder is diagnosed.
Part B: Genetics and Pathology
4. Use the Internet and other sources to research what is known about the specific genetic cause of the disorder. Look for information to answer the following:
(a) What specific gene is responsible for this disorder?
(b) On what chromosome is the gene located?
(c) What is the function of the gene? What protein does it normally code for?
5. Research the effects of the genetic disorder. How does the genetic disorder influence the health of the individual? If possible, explain how the disorder accounts for the known symptoms.
Part C: Treatment
6. Research current options for treatment. Note any benefits and risks involved in these methods.
Part D: Medical Report
7. Prepare a report that summarizes your findings from Parts A, B, and C. The report should be written in a form suitable for sharing with an affected individual and family members.
Consider the best way to present the information. For example, a karyotype or pedigree chart.
ASSESSMENT CHECKLIST
Your completed Unit Task will be assessed using the following criteria:
Knowledge/Understanding
- your ability to understand the pattern of inheritance of a genetic disorder
- your ability to understand the relationship between a mutated gene and an inherited disorder
Thinking/Investigation
- your ability to synthesize information from a variety of sources
- your ability to consider and evaluate a number of options, based on the accuracy and currency of information from various sources
Communication
- the organization and clarity of the information in your consultation report
- the effectiveness of your written and oral presentations
Application
- the quality of your assessment of the options available to the individual and family
- your ability to describe a genetic disorder, in terms of physical effects and treatments
Marking Scheme
3U: Genetic Disorder Report
Total: 30 Marks
Format [C] (Total /4)
1. title page /1
2. references /3
Conventions [C] (Total /6)
1. Spelling, grammar /4
2. neatness /2
Information (Total /20)
1. Part A: Inheritance and Diagnosis [T/I] /5
2. Part B: Genetics and Pathology [K/U] /5
3. Part C: Treatment [K/U] /5
4. Part D: Medical Report [A] /5
3U Unit 2 Oral Presentation
NAME: _
Total: 10 marks
Clarity and Vocabulary (Total /7):
Introduces topic clearly and precisely /1
Speaks clearly and enunciates. /1
Displays knowledge of the disorder.
(Does NOT read.) /2
Presents cause, symptoms and treatment for the disorder /3
Creativity (Total /3)__:
Describes the disorder in an informative and interesting manner. /3