Name ____________________________________________________ Date ________________________________ Period _____
Genetics Culminating Task: What to Expect When You’re Expecting
Presently, there are thousands of genetic disorders that affect humans, some of which can have profound effects on a
person's quality of life. Genetic disorders are passed from parents to offspring in the genetic code, and in some
cases, a person may be a carrier for a disease and pass it to their children without knowing. Because genetic diseases
are usually caused by errors or mutations in the genetic code, it is extremely difficult to cure the condition, and in
most cases, doctors can only treat the symptoms.
You are a physician in the year 2020. A couple expecting a child comes into your office in order to undergo routine
prenatal testing which include genetic tests. After conducting preliminary tests, there appears to be genetic
information that concerns the future health of the fetus.
In this project, you will research a genetic disease, present a short presentation to the class about the disease
you researched, and write a letter to the couple expecting a child.
Part 1: Genetic Disorder Presentation (Partner Assignment)
Step 1: Choose your partner.
Partner 1: _______________________________________
Partner 2 ________________________________________
Step 2: Choose which disease you will research. There are many genetic diseases to choose from. If you choose
something not on the list below, have your choice approved before proceeding. Each group must choose a different
disorder, so when your group has chosen, inform Ms. Carter. Highlight or circle your disorder below, unless other.
Sickle-Cell Disease
Phenylketonuria
Tay Sachs Disease
Herditary Deafness
Achondroplasia (dwarfism)
Huntington's Disease
Trisomy 13 (Edward's Syndrome)
Rett Syndrome
Turner Syndrome
Progeria (premature aging)
Gaucher Disease
Duchenne Muscular Dystrophy
Jacobs
Triple X
Patau Syndrome
Albinism
Cystic Fibrosis
Adrenoleukodystrophy (Lorenzo's Oil)
Coffin-Lowry Syndrome
Fragile X Syndrome
Marfan Syndrome (Alton Giant)
Phenylketonuria (PKU)
Klinefelter Syndrome
Rett Syndrome
Xeroderma pigmentosum
Prader-Willi Syndrome
Cri-du-chat
Other: ___________________________
*Other disorders can be found at
http://www.kumc.edu/gec/support/
Step 3: Research your disorder
Your presentation to the class will need to provide an overview of the disease, addressing what causes it, what the
effects and symptoms are, and how likely it is to pass the disease on to the next generation. Use the following
questions to guide you in your research:
Medical
1. What are the physical symptoms of the disease?
2. How prevalent is the disease in the population
(include statistics)?
3. How is the disease diagnosed?
4. How does a person inherit it?
 Is it dominant or recessive?
 Is it a chromosomal abnormality?
Personal
1. What is everyday life like?
2. What is the quality of life?
 Quality of life means ___________________
___________________________________.
2. What limitations does the person have?
3. How can the disease be treated?
4. How possible is it that a cure will be found?
5. What are the possible genotypes of the parents?
 Describe if the parents are homozygous
(dominant or recessive) or heterozygous
(carriers). Include a Punnett Square to
demonstrate modes of inheritance
OR
 If the disease is a chromosomal abnormality,
describe the abnormality. Include a picture
that demonstrates the error that occurs
during meiosis which leads to the
abnormality when fertilization occurs
6. What are the chances of a person with this
disease passing the disease to their offspring
(include possible scenarios)?
 Include a Punnett Square to demonstrate
modes of inheritance
OR
 If the disease is a chromosomal abnormality,
describe the abnormality. Include a picture
that demonstrates the error that occurs
during meiosis which leads to the
abnormality when fertilization occurs
5. What are some organizations that can help a
family cope with a child's disorder? What supports
do they provide?
List at least 3 sources used. Make sure they are credible sources. Use the criteria identified when researching
1. __________________________________________________________________________________
Citation: ____________________________________________________________________________
____________________________________________________________________________________
2. __________________________________________________________________________________
Citation: ____________________________________________________________________________
____________________________________________________________________________________
3. __________________________________________________________________________________
Citation: ____________________________________________________________________________
____________________________________________________________________________________
How to Write a Citation
Step 4: Prepare your Presentation using PowerPoint




There must be a minimum of 6 slides. A picture must be on every slide.
Summarize the information using bullet points or short phrases. The bulk of the information is presented orally.
The more technical the slides, the better the score.
Citations must be on every slide. Plagiarism will count for a NP.
April 7 / 8, 2014
Step 5: Presentation
 All students must present in front of the class. All students must speak equally.
 Presentations will be a minimum of 4 minutes.
 Students will be dressed professionally for the presentation.
4
3
2
Mechanics
0 Spelling or
1-2 Spelling or
3-4 Spelling or
Grammar Error
Grammar Error
Grammar Error
Organization
Logical and
Logical sequence
Audience has
interesting sequence audience can follow
difficulty following,
which audience can
topics jump around
follow
Information –
Medical
Presentation
addresses all
medical questions,
using academic
vocabulary and
responses are
detailed, thoughtful,
interesting, or
original
Presentation
addresses all
medical questions,
using academic
vocabulary and
responses are
lacking details and
are generic
Presentation
addresses most
medical questions,
lacks academic
vocabulary and
responses are short
and generic
☐ What are the physical
symptoms of the
disease?
☐ How is the disease
diagnosed?
☐ What are the possible
genotypes of the
parents?
☐ How prevalent is the
disease in the
population (include
statistics)?
☐ How does a person
inherit it?



Is it dominant or
recessive?
Is it a chromosomal
abnormality?

Information Personal
Describe if the parents are
homozygous (dominant or
recessive) or
heterozygous (carriers).
Include a Punnett
Square to demonstrate
modes of inheritance
OR
If the disease is a
chromosomal abnormality,
describe the abnormality.
Include a picture that
demonstrates the error
that occurs during
meiosis which leads to
the abnormality when
fertilization occurs
1
5+ Spelling or
Grammar Error
Audience cannot
understand the
presentation because
there is no sequence
of information
Presentation does not
address many
questions;
incomplete. More
effort is necessary
☐ What are the chances
of a person with this
disease passing the
disease to their
offspring (include
possible scenarios)?

Include a Punnett
Square to demonstrate
modes of inheritance
OR

if the disease is a
chromosomal abnormality,
describe the abnormality.
Include a picture that
demonstrates the error
that occurs during
meiosis which leads to
the abnormality when
fertilization occurs
Presentation
addresses all
personal questions,
using academic
vocabulary and
responses are
detailed, thoughtful,
interesting, or
original;
demonstrates
empathy
Presentation
addresses all
personal questions,
using academic
vocabulary and
responses are
lacking details and
are generic
Presentation
addresses most
personal questions,
lacks academic
vocabulary and
responses are short
and generic
Presentation does not
address many
questions;
incomplete. More
effort is necessary
☐What is everyday life
☐ What limitations
☐How possible is it that
☐What are some
does the person have?
a cure will be found?
organizations that can
help a family cope with
a child's disorder? What
supports do they
provide?
like?
☐ What is the quality of
life?
☐ How can the disease
be treated?
Slides Outline: Direction - Write the TITLE of each slide on the line and in each box bullet key ideas and pictures
Slide 1 __________________________________________
Slide 2 ________________________________________
Slide 3 __________________________________________
Slide 4 ________________________________________
Slide 5 __________________________________________
Slide 6 ________________________________________
Slide 7 __________________________________________
Slide 8 ________________________________________
Slide 9 __________________________________________
Slide 10 _______________________________________
Slide 11 __________________________________________
Slide 12 _______________________________________
Presentation Practice Checklist
Name(s):
Period:
Presentation Practice Checklist
Name(s):
Period:

Loud and Clear

Pronounces vocabulary correctly and smoothly

Makes eye contact

Smooth pacing- not fast or slow

Does not read off of slides

Anticipates what to say next

Uses slides for help, but fills in the gaps with impromptu

Checks for understanding; asks audience questions

Everyone on team speaks equally

Everyone on team understands their roles

Everyone on team is knowledgeable

Comments by Other Team:

Comments by Teacher:
Presentation Practice Checklist
Name(s):
Period:

Loud and Clear

Pronounces vocabulary correctly and smoothly

Makes eye contact

Smooth pacing- not fast or slow

Does not read off of slides

Anticipates what to say next

Uses slides for help, but fills in the gaps with impromptu

Checks for understanding; asks audience questions

Everyone on team speaks equally

Everyone on team understands their roles

Everyone on team is knowledgeable

Comments by Other Team:

Comments by Teacher:

Loud and Clear

Pronounces vocabulary correctly and smoothly

Makes eye contact

Smooth pacing- not fast or slow

Does not read off of slides

Anticipates what to say next

Uses slides for help, but fills in the gaps with impromptu

Checks for understanding; asks audience questions

Everyone on team speaks equally

Everyone on team understands their roles

Everyone on team is knowledgeable

Comments by Other Team:

Comments by Teacher:
Presentation Practice Checklist
Name(s):
Period:

Loud and Clear

Pronounces vocabulary correctly and smoothly

Makes eye contact

Smooth pacing- not fast or slow

Does not read off of slides

Anticipates what to say next

Uses slides for help, but fills in the gaps with impromptu

Checks for understanding; asks audience questions

Everyone on team speaks equally

Everyone on team understands their roles

Everyone on team is knowledgeable

Comments by Other Team:

Comments by Teacher:
Name ____________________________________________________ Date ________________________________ Period _____
Genetics Culminating Task: What to Expect When You’re Expecting
Presently, there are thousands of genetic disorders that affect humans, some of which can have profound effects on a
person's quality of life. Genetic disorders are passed from parents to offspring in the genetic code, and in some
cases, a person may be a carrier for a disease and pass it to their children without knowing. Because genetic diseases
are usually caused by errors or mutations in the genetic code, it is extremely difficult to cure the condition, and in
most cases, doctors can only treat the symptoms.
You are a physician in the year 2020. A couple expecting a child comes into your office in order to undergo routine
prenatal testing which include genetic tests. After conducting preliminary tests, there appears to be genetic
information that concerns the future health of the fetus.
In this project, you will research a genetic disease, present a short presentation to the class about the disease you
researched, and write a letter to the couple expecting a child.
Part 2: Genetic Disorder Analysis Report (Independent Assignment)
DUE April 7 / 8, 2014
After determining what genetic disorder(what you chose), you must detail your findings and course of treatment in
writing for the parents. This couple has several important questions that they would like answered:
1. What is the genetic disorder? What are physical symptoms of the disorder?
2. How is this disorder inherited? How could their child have a genetic disorder if both parents are
“healthy?”
3. What is the current course of treatment for the genetic disorder that have been identified during the
genetic testing?
4. What is gene therapy and is gene therapy a viable option for their child?
5. This couple is thinking about having more children, what are the chances that they will have another
child with the same genetic disorder(s)?
6. What are some organizations that can help a family cope with a child's disorder? What supports do
they provide?
Below is the framework for your letter. Please use the sentence starters to begin and elaborate your responses to
each question. I have placed the Question number before each sentence starter for you to reference the question that
each sentence starter prompts you to respond.
All letters must be TYPED and a HARD COPY must be submitted. Also include a copy of your letter in your Biology
folder on Google Drive.
To: Mr. and Mrs. Smith
From: Dr. _________________________
Date: March _____, 2014
(Your Name)
Dear Mr. and Mrs. Smith,
Based upon genetic testing your child has been diagnosed with ___________________. Q1 This disease will
effect your child by _________________________________________________________________________________________
____________________________________________________________________________________________________________
____________________________________________________________________________________________________________
____________________________________________________________________________________________________________
__________________________________________________________________________________________________________.
Q2 This disease is inherited by _______________________________________________________________________
____________________________________________________________________________________________________________
____________________________________________________________________________________________________________
____________________________________________________________________________________________________________
___________________________________________________________________________________________________________.
Q3 Currently, the course of treatment is _______________________________________________________________
____________________________________________________________________________________________________________
____________________________________________________________________________________________________________
Q4 Gene therapy is ________________________________________________________________________________________
and it is / is not viable option for your child because ___________________________________________________________
____________________________________________________________________________________________________________
.
Q5 In the future the probability of having another child affected by ________________________ is ____________.
Q6 I have done some research and I found several organizations that help support families that are affected by
____________________. One organization is _____________________ and they provide support by ___________________
___________________________________________________________________________________________________________.
I wish you and your growing family the best of luck.\
Sincerely,
Dr. _____________________
Rubric
4
 Answers all
questions.
 Correct spelling
and grammar.
 Responses are
written neatly & in
complete sentences.
 Responses are
detailed.
 Responses are
thoughtful, interesting,
or original.
 Creates a
professional letter.
3
 Answers all
questions.
• 1-2 spelling and
grammar errors
• Responses are
written in complete
sentences.
• Responses are a
bit short & not as
detailed.
• Responses are
generic.
• Creates a
professional letter.
Dear Parents and/or Guardians / Estimados padres y/o tutores,
2
• Most questions are
answered, maybe 1 or
2 missing.
• 3-4 spelling and
grammar mistakes.
• Responses may
not be written in
complete sentences.
• Responses are a
short, about 1
sentence each, and
not detailed.
• Responses are
generic.• Creates a
professional letter
1
Does not answer most
questions.
OR
Lacks quality and effort.
OR
Messy and disorganized
writing.
Please come and see your student in action! Your student has been hard at work completing their Final Project and
Presentation for heir Genetics Unit. They have worked with a partner to research a genetic disorder, and they are
going to teach us all about it. We would love for you to see their hard work. Presentations will take place April 3-4.
Por favor, venga y vea su estudiante en acción! Su estudiante ha sido difícil en el trabajo de completar su proyecto
Final y presentación de heredero unidad de genética. Han trabajado con un compañero de un desorden genético, y
van a enseñarnos todo. Nos encantaría ver su arduo trabajo. Las presentaciones tendrán lugar 3-4 de abril.
April 3 – Odd Day
1st 8:30am-10:25am
3rd 10:50am-12:45pm
5th 1:20pm-3:15pm
April 4 – Even Day
2nd 8:30am-10:25am
4th 10:50am-12:45pm
6th 1:20pm-3:15pm
We look forward to seeing you!
Esperamos verte pronto!
Ms. Carter
Dear Parents and/or Guardians / Estimados padres y/o tutores,
Please come and see your student in action! Your student has been hard at work completing their Final Project and
Presentation for heir Genetics Unit. They have worked with a partner to research a genetic disorder, and they are
going to teach us all about it. We would love for you to see their hard work. Presentations will take place April 3-4.
Por favor, venga y vea su estudiante en acción! Su estudiante ha sido difícil en el trabajo de completar su proyecto
Final y presentación de heredero unidad de genética. Han trabajado con un compañero de un desorden genético, y
van a enseñarnos todo. Nos encantaría ver su arduo trabajo. Las presentaciones tendrán lugar 3-4 de abril.
April 3 – Odd Day
1st 8:30am-10:25am
3rd 10:50am-12:45pm
5th 1:20pm-3:15pm
We look forward to seeing you!
Esperamos verte pronto!
Ms. Carter
April 4 – Even Day
2nd 8:30am-10:25am
4th 10:50am-12:45pm
6th 1:20pm-3:15pm