GENETIC DISORDER

RESEARCH POWER
POINT PROJECT

A Collaborative Research Project Based on the

California State Standards in Biology Grades 9-
12
Claire Carey
Santa Barbara High School
UCSB RET II 2006
 Carey Page 2 CP BIO

GENETICS DISORDER RESEARCH PROJECT

This unit project focuses on how genetics affects humans directly. Many
people are affected by genetic disorders; you may even have some family
members or friends with some of these diseases. I suggest that you choose a
disorder that affects someone you know or intrigues you because it is strange or
interesting. The goal is to research the disorder and orally present information
and recent research through a group PowerPoint.

Genetic Description Websites

Disorder
Alzheime A progressive brain
http://www.ygyh.org/?syndrome

r’s disorder that gradually http://www.alz.org

Disease destroys a person’s
memory and ability to http://www.alzheimers.org
learn, reason, make
judgments, and http://www.alzheimers.org.uk
communicate.
http://www.nlm.nih.gov/medlineplus/alzheimersdisea
se

http://www.mamashealth.com/Alzheimers

http://www.alzforum.org

http://www.alzinfo.org/

Angelman Prader-Willi syndrome

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.section.235
Syndrom is an uncommon
e/ Prader- inherited disorder http://www.ninds.nih.gov/disorders/angelman/angelm
characterized by an
Willi mental retardation,
Syndrom decreased muscle http://ghr.nlm.nih.gov/condition=angelmansyndrome
e tone, and life-
http://www.angelman.org
threatening obesity.
http://www.pwsausa.org
When this genetic
mutation is inherited http://www.pwsresearch.org/default.html
from the mother,
Angelman Syndrome http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
arises which causes call=bv.View..ShowSection&rid=gnd.section.165
neurological problems
including jerky
movements and
spontaneous laughter.

Celiac A disease that

http://www.nlm.nih.gov/medlineplus/celiacdisease

Disease triggers an http://www.csaceliacs.org/celiac

(Celiac autoimmune
response that causes http://digestive.niddk.nih.gov/ddiseases/pubs/celiac
Sprue) damage to the small
 Carey Page 3 CP BIO
http://www.gluten.net/celiac
intestine when
certain types of http://www.labtestsonline.org/understanding/analyte
protein, called s/celiac
gluten, are eaten.
http://www.celiac.org

Cri du Cri du chat syndrome http://www.icomm.ca/geneinfo/criduchat

is a group of
chat symptoms that result http://ghr.nlm.nih.gov/condition=criduchatsyndrome
Syndrom from missing a piece
of chromosome http://gslc.genetics.utah.edu/units/disorders/karyoty
e (Cat’s number 5. The pe/criduchat.cfm
Cry syndrome’s name is
Syndrom based on the infant’s http://www.madisonsfoundation.org
cry, which is high
e, pitched and sounds http://www.ncbi.nlm.nih.gov/entrez/query
Monosom like a cat.
http://members.tripod.com/%7Eyenial/students.html
y 5p)
Cystic A recessive genetic
www.ygyh.org/?syndrome

Fibrosis disease in which the http://www.cff.org/home

exocrine glands of
afflicted individuals http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
produce abnormally call=bv.View..ShowSection&rid=gnd.section.242
thick mucus that
http://www.cfri.org/home
block the intestines
and lung http://www.nlm.nih.gov/medlineplus/ency/article/000
passageways. People 107.htm
with the disease have
a very hard time http://learnaboutcf.tripod.com
breathing and often
die from suffocation. http://www.cysticfibrosis.com

Diabetes, Diabetes is a chronic

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.section.229
type 1 metabolic disorder
(Juvenile that adversely affects http://diabetes.niddk.nih.gov/dm/pubs/overview/inde
the body's ability to x.htm
Diabetes) manufacture and use
and Type insulin, a hormone http://familydoctor.org/480.xml
2 necessary for the
http://www.jdrf.org
conversion of food
into energy. http://www.diabetes.org/home.jsp

http://ndep.nih.gov

Down Down syndrome is a www.ygyh.org/?syndrome

chromosome
Syndrom abnormality, usually http://www.ndss.org
e due to an extra copy
of the 21st http://www.nads.org
(Trisomy chromosome. This
21) syndrome usually, http://www.down-syndrome.info
although not always,
 Carey Page 4 CP BIO
results in mental http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?
retardation and other id=190685
conditions.
http://www.nas.com/downsyn/benke.html
Duchenne The muscular www.ygyh.org/?syndrome
dystrophies are a
& Becker group of genetic http://www.ncbi.nlm.nih.gov/disease/DMD.html
Muscular diseases characterized
by progressive http://www.mdausa.org
Dystroph weakness and
y degeneration of the http://www.mayoclinic.com/invoke.cfm?id=DS00200
skeletal muscles that
control movement. http://www.nlm.nih.gov/medlineplus/musculardystrop
hy.html

http://www.parentprojectmd.org/news/latest/index.ht
ml

Fragile X Fragile X is a www.ygyh.org/?syndrome

hereditary/genetic
Syndrom condition caused by a www.fragilex.org
e mutation on the X
chromosome. It can http://www.fraxa.org
cause learning
disabilities, or severe http://www.ncbi.nlm.nih.gov/disease/FMR1.html
intellectual
complications http://www.nlm.nih.gov/medlineplus/ency/article/001
including autism. 668.htm

http://www.nfxf.org/html

Hemophil Hemophilia is a rare www.ygyh.org/?syndrome

inherited bleeding
ia A or B disorder that causes http://www.hemophilia.org/home
blood problems in
blood clotting. http://www.wfh.org

http://www.ncbi.nlm.nih.gov/disease/hemoA.html

www.hemophiliagalaxy.com

http://www.nlm.nih.gov/medlineplus/hemophilia.html

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?
rid=gnd.section.95

Huntingt A hereditary, www.hdsa.org

degenerative brain
on disorder for which www.ygyh.org/?syndrome
Disease there is no effective
treatment or cure. HD http://www.hdac.org
slowly diminishes the
affected individual's http://www.ncbi.nlm.nih.gov/disease/Huntington.html
ability to walk, think,
talk and reason. http://www.huntington-assoc.com

http://www.hdfoundation.org

http://hdlighthouse.org
 Carey Page 5 CP BIO

Klinefelte In addition to http://www.aaa.dk/TURNER/ENGELSK/INDEX.HTM

occasional breast
r enlargement, lack of http://www.nichd.nih.gov/publications/pubs/klinefelte
Syndrom facial and body hair, r.htm
and a rounded body
e (XXY type, XXY males are http://www.genetic.org/ks/scvs/47xxy.htm
Syndrom more likely than other
e) males to be http://www.nlm.nih.gov/medlineplus/klinefelterssyndr
overweight, and tend ome.html
to be taller than their
fathers and brothers. http://ghr.nlm.nih.gov/condition=klinefeltersyndrome

http://www.ksa-uk.co.uk/

http://47xxy.org/

Maple Maple Syrup Urine http://www.ncbi.nlm.nih.gov/books/bv.fcgi?

Disease is an inherited rid=gnd.section.253
Syrup disorder so named
Urine because one of its first http://www.meadjohnson.com/metabolics/maplesyru
signs is urine that has purinedesease.html
Disease an odor reminiscent of
maple syrup. http://www.msud-support.org/

http://www.nlm.nih.gov/medlineplus/ency/article/000
373.htm

http://www.savebabies.org/diseasedescriptions/msud
.php

http://rarediseases.about.com/od/rarediseases1/a/06
2004.htm

Obesity Obesity is an excess of http://www.ncbi.nlm.nih.gov/books/bv.fcgi?

body fat that rid=gnd.section.232
frequently results in a
significant impairment http://www.cdc.gov/genomics/info/perspectives/obesi
of health. ty.htm

http://www.nlm.nih.gov/medlineplus/obesity.html

http://www.obesite.chaire.ulaval.ca/genes.html

http://www.cancer.gov/newscenter/obesity1

http://www.niddk.nih.gov/

Parkinson Parkinson's disease is http://www.ninds.nih.gov/disorders/parkinsons_disea

a motor system se/parkinsons_disease
’s disorder which is the
Disease result of the loss of http://www.apdaparkinson.org/user/index.asp
dopamine-producing
brain cells. Parkinson’s http://www.parkinson.org/site/pp.asp?
can cause tremors, c=9dJFJLPwB&b=71117
rigidity, slowness of
movement and http://www.michaeljfox.org/
postural instability.
http://www.parkinsonalliance.org/
 Carey Page 6 CP BIO
http://altrue.he.net/~thepi/site/parkinson/

Phenylket Phenylketonuria is a www.ygyh.org/?syndrome

hereditary disorder in
onuria which the amino acid http://www.pkunews.org/
(PKU) phenylalanine isn't
properly metabolized. http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html
As a result, the amino
acid can build up to http://www.mayoclinic.com/invoke.cfm?id=DS00514
dangerous levels in
the blood and other http://www.pkunetwork.org
tissues, causing
mental retardation http://www.nlm.nih.gov/medlineplus/tutorials/pku
and other serious
health problems. http://www.savebabies.org/diseasedescriptions/pku.p
hp

http://www.marchofdimes.com/professionals

Polycysti Polycystic kidney www.ygyh.org/?syndrome

disease is a genetic
c Kidney disorder characterized http://www.pkdcure.org/home.html
Disease by the growth of
numerous cysts in the http://www.ncbi.nlm.nih.gov/disease/PKD.html
kidneys. The cysts can
reduce kidney function http://kidney.niddk.nih.gov/kudiseases/pubs/polycysti
and lead to kidney c
failure.
http://familydoctor.org/142.xml

http://ghr.nlm.nih.gov/condition=polycystickidneydis
ease

http://www.kidney.org

Sickle Sickle cell anemia is www.ygyh.org/?syndrome

an inherited disorder
Cell that affects http://www.ncbi.nlm.nih.gov/disease/sickle.html
Anemia hemoglobin, a protein
that enables red blood http://www.sicklecellinfo.net
(Sickle cells to carry oxygen
Cell to all parts of the http://www.sicklecelldisease.org/about_scd/faqs.pht
Disease) body, resulting in a ml
low number of red
blood cells and http://www.ascaa.org
periodic pain.
http://ghr.nlm.nih.gov/ghr/disease/sicklecellanemia

Tay-Sachs A rare inherited

www.ygyh.org/?syndrome

Disease disorder that causes http://www.ntsad.org

progressive
destruction of nerve http://www.marchofdimes.com/professionals/681_12
cells in the brain and 27.asp
spinal cord, found to
http://www.genome.gov/page.cfm?
be more common in pageID=10001220
people of Ashkenazi
Jewish heritage than http://ghr.nlm.nih.gov/condition=taysachsdisease
 Carey Page 7 CP BIO

in those with other http://www.ninds.nih.gov/disorders/taysachs/taysach

backgrounds. s

http://kidshealth.org/parent/system/medical/genetic_
counseling

http://www.ncbi.nlm.nih.gov/disease/Tay_Sachs

Triple-X A rare chromosomal http://www.aaa.dk/TURNER/ENGELSK/INDEX

genetic syndrome with
Syndrom one or more extra X http://www.mayoclinic.com/invoke.cfm?
e chromosomes, leading retryCount=2&id=AN00351
to XXX (or more rarely
(Trisomy XXXX or XXXXX), http://ghr.nlm.nih.gov/condition=triplexsyndrome
X) instead of the usual
XX. These people are http://www.madisonsfoundation.org
females and can be
unaffected, or may http://www.med.umich.edu/1libr/yourchild/xxxsyn
suffer from problems
such as infertility and http://www.wrongdiagnosis.com/t/triple_x_syndrome/i
reduced mental acuity. ntro

Turner’s Turner syndrome is a http://www.aaa.dk/TURNER/ENGELSK/INDEX

chromosomal
Syndrom condition that http://www.turner-syndrome-us.org/
e exclusively affects
girls. It occurs when http://www.tss.org.uk/
one of the two X
chromosomes http://www.turnersyndrome.ca/
normally found in
females is missing or http://turners.nichd.nih.gov/
incomplete.
http://www.turnerssyndrome.org.au/

XYY A condition in which http://www.aaa.dk/TURNER/ENGELSK/INDEX

males have two Y
Syndrom chromosomes; side http://www.ddhealthinfo.org/ggrc/doc2.asp?
e effects include being ParentID=5199
more physically active
and having a tendency http://my.webmd.com/hw/mens_conditions/nord812.
to delayed mental asp
maturation.
http://ghr.nlm.nih.gov/condition=47xyysyndrome

http://www.nlm.nih.gov/medlineplus

http://www.rarediseases.org
Carey Page 8 CP BIO

Group Names: ________________________ Disorder: _______________

Genetics Disorder Grading Rubric

Presentation Requirements Earne Possibl Comments
d e
Points Points
Introduction 20
 Name the disorder
 Introduce team members
Definition of the disorder 20
 What happens to the body?
 What part of the body does
it generally affect?
Description of the symptoms 10
 List all of the possible
effects on the body
Cause of the disorder 20
 What happens in the body to
cause the disease?
 Is it a mutation? A genetic
tendency triggered by other
factors?
How the disorder is inherited 30
 Is it sex-linked?
 Is there a particular
chromosome it is located
on?
 Is it recessive or dominant?
How the disorder is treated 10
 Medications? Gene therapy?
How the disorder is diagnosed 10
 What tests are done? Is
genetic counseling an
option?
How many and what type of 20
people are likely to have the
disorder
 Is it more common in a
certain group of people?
 How common is it?
Application of research article 10
 What new information did
you learn from your
research?

Total Points Earned 150

Carey Page 9 CP BIO

GENETICS DISORDER TOPIC SHEET

1. What genetic disorder do you want to research?

_____________________

2. Who is your partner? ____________________________

GENETICS DISORDER TOPIC SHEET

1. What genetic disorder do you want to research?

____________________

2. Who is your partner? ____________________________

GENETICS DISORDER TOPIC SHEET

1. What genetic disorder do you want to research?

____________________

2. Who is your partner? ____________________________

GENETICS DISORDER TOPIC SHEET

1. What genetic disorder do you want to research?

____________________

2. Who is your partner? ____________________________

GENETICS DISORDER TOPIC SHEET

1. What genetic disorder do you want to research?

____________________

2. Who is your partner? ____________________________

Carey Page 10 CP BIO

GENETICS DISORDER PROJECT SIGN-UP

Partner Genetic Article Presentatio

Names Disorder n Format
Carey Page 11 CP BIO
GENETICS DISORDER RESEARCH SHEET

Research Site: _______________________________________________________

Presentation Requirements Research

Definition of the disorder
 What happens to the body?
 What part of the body does it generally
affect?
Description of the symptoms
 List all of the possible effects on the
body
Cause of the disorder
 What happens in the body to cause the
disease?
 Is it a mutation? A genetic tendency
triggered by other factors?
How the disorder is inherited
 Is it sex-linked?
 Is there a particular chromosome it is
located on?
 Is it recessive or dominant?
How the disorder is treated
 Medications? Gene therapy?
How the disorder is diagnosed
 What tests are done? Is genetic
counseling an option?
How many and what type of people are likely to
have the disorder
 Is it more common in a certain group of
people?
 How common is it?

Research Site: _______________________________________________________

Presentation Requirements Research

Definition of the disorder
 What happens to the body?
 What part of the body does it generally
affect?
Description of the symptoms
 List all of the possible effects on the
body
Cause of the disorder
 What happens in the body to cause the
disease?
 Is it a mutation? A genetic tendency
triggered by other factors?
How the disorder is inherited
 Is it sex-linked?
 Is there a particular chromosome it is
located on?
 Is it recessive or dominant?
How the disorder is treated
 Medications? Gene therapy?
How the disorder is diagnosed
 What tests are done? Is genetic
counseling an option?
How many and what type of people are likely to
have the disorder
 Is it more common in a certain group of
people?
 How common is it?
Carey Page 12 CP BIO

Research Site: _______________________________________________________

Presentation Requirements Research

Definition of the disorder
 What happens to the body?
 What part of the body does it generally
affect?
Description of the symptoms
 List all of the possible effects on the
body
Cause of the disorder
 What happens in the body to cause the
disease?
 Is it a mutation? A genetic tendency
triggered by other factors?
How the disorder is inherited
 Is it sex-linked?
 Is there a particular chromosome it is
located on?
 Is it recessive or dominant?
How the disorder is treated
 Medications? Gene therapy?
How the disorder is diagnosed
 What tests are done? Is genetic
counseling an option?
How many and what type of people are likely to
have the disorder
 Is it more common in a certain group of
people?
 How common is it?

Research Site: _______________________________________________________

Presentation Requirements Research

Definition of the disorder
 What happens to the body?
 What part of the body does it generally
affect?
Description of the symptoms
 List all of the possible effects on the
body
Cause of the disorder
 What happens in the body to cause the
disease?
 Is it a mutation? A genetic tendency
triggered by other factors?
How the disorder is inherited
 Is it sex-linked?
 Is there a particular chromosome it is
located on?
 Is it recessive or dominant?
How the disorder is treated
 Medications? Gene therapy?
How the disorder is diagnosed
 What tests are done? Is genetic
counseling an option?

How many and what type of people are likely to

have the disorder
 Is it more common in a certain group of
people?
 How common is it?
Carey Page 13 CP BIO
Carey Page 14 CP BIO

Genetics Disorder Article Worksheet

~DIRECTED READING THINKING ACTIVITY~

PREDICTING: BEFORE YOU READ THE ARTICLE FOCUSED ON YOUR GENETIC

DISEASE, ANSWER THESE QUESTIONS. CHOOSE ONE PERSON TO BE THE
RECORDER.

1. WHAT IS THE TITLE OF THE ARTICLE?

__________________________________

2. WHAT JOURNAL (MAGAZINE) IS THE ARTICLE FOUND IN?

____________________

3. WHAT DO YOU PREDICT THE ARTICLE IS ABOUT, JUST BY LOOKING AT

THE TITLE, GRAPHICS, AND THE FIRST SENTENCE?




4. WHAT QUESTION OR QUESTIONS DO YOU PREDICT THE ARTICLE WILL

TRY TO ANSWER?




READING:
1. READ THE ARTICLE IN YOUR LARGE GROUP; TAKE TURNS HAVING ONE
PERSON READ A PARAGRAPH OUT LOUD AND WRITE DOWN NEW
INFORMATION YOU LEARNED ABOUT YOUR DISORDER.






CHECK PREDICTIONS:
1. LOOK AT THE PREDICTING SECTION LIST THE PREDICTIONS THAT WERE
CORRECT ABOUT THE ARTICLE.




Carey Page 15 CP BIO




 Carey Page 16 CP BIO
Genetics Disorder Self Evaluation

Presentation Requirements Cumulative Research

Points
Definition of the disorder ______
 What happens to the body? 20
 What part of the body does it
generally affect?
Sites: _________________________________
____________________________________
Description of the symptoms ______
 List all of the possible effects on the 10
body
Sites: _________________________________
____________________________________
Cause of the disorder ______
 What happens in the body to cause 20
the disease?
 Is it a mutation? A genetic tendency
triggered by other factors?
Sites: _________________________________
____________________________________
How the disorder is inherited ______
 Is it sex-linked? 30
 Is there a particular chromosome it is
located on?
 Is it recessive or dominant?
Sites: _________________________________
____________________________________
How the disorder is treated ______
 Medications? Gene therapy? 10
Sites: _________________________________
____________________________________
How the disorder is diagnosed ______
 What tests are done? Is genetic 10
counseling an option?
Sites: _________________________________
____________________________________
How many and what type of people are likely ______
to have the disorder 20
 Is it more common in a certain group
of people?
 How common is it?
Sites: _________________________________
____________________________________
Application of research article ______
 What new information did you learn 10
from your research?
Resource: ______________________________
____________________________________

_____
Total Points Earned 130
Carey Page 17 CP BIO
Genetics Disorder Job Worksheet

Partne Slides to Make & Present in Given Order

r
1 Title Slide: Project Title, team members
Definition Slide: What happens to body; part of body affected?
2 Symptom Slide: List of all effects on body
Cause Slide: What happens in body to cause disease; Mutation?
Genetic tendency triggered by other factors?
3 Inherited Slide: Sex-linked-yes or no; particular chromosome;
recessive or dominant?
Treatment Slide: Medications? Gene therapy?
4 Diagnostic Tests Slide: What tests are done; genetic counseling?
Frequency in Population Slide: More common in certain group;
how common is it?
1 Article Slide: New information found from research

Genetics Disorder Job Worksheet

Partne Slides to Make & Present in Given Order

r
1 Title Slide: Project Title, team members
Definition Slide: What happens to body; part of body affected?
2 Symptom Slide: List of all effects on body
Cause Slide: What happens in body to cause disease; Mutation?
Genetic tendency triggered by other factors?
3 Inherited Slide: Sex-linked-yes or no; particular chromosome;
recessive or dominant?
Treatment Slide: Medications? Gene therapy?
4 Diagnostic Tests Slide: What tests are done; genetic counseling?
Frequency in Population Slide: More common in certain group;
how common is it?
1 Article Slide: New information found from research

Genetics Disorder Job Worksheet

Partne Slides to Make & Present in Given Order

r
1 Title Slide: Project Title, team members
Definition Slide: What happens to body; part of body affected?
2 Symptom Slide: List of all effects on body
Cause Slide: What happens in body to cause disease; Mutation?
Genetic tendency triggered by other factors?
3 Inherited Slide: Sex-linked-yes or no; particular chromosome;
recessive or dominant?
Treatment Slide: Medications? Gene therapy?
4 Diagnostic Tests Slide: What tests are done; genetic counseling?
Frequency in Population Slide: More common in certain group;
how common is it?
1 Article Slide: New information found from research
Carey Page 18 CP BIO
Genetics Disorder Power Point Checklist

Team Members: ___________________________________

Genetic Disorder: __________________________________

 Slides to Make & Present in Given Order

Title Slide: Project Title, team members

Definition Slide: What happens to body; part of body affected

Symptom Slide: List of all effects on body

Cause Slide: What happens in body to cause disease; mutation? Genetic

tendency triggered by other factors?
Inherited Slide: Sex-linked-yes or no; particular chromosome; recessive
or dominant?
Treatment Slide: Medications? Gene therapy?

Diagnostic Tests Slide: What tests are done; genetic counseling?

Frequency in Population Slide: More common in certain group; how

common it is
Article Slide: New information found from research

Genetics Disorder Power Point Checklist

Team Members: ___________________________________

Genetic Disorder: __________________________________

 Slides to Make & Present in Given Order

Title Slide: Project Title, team members

Definition Slide: What happens to body; part of body affected

Symptom Slide: List of all effects on body

Cause Slide: What happens in body to cause disease; mutation? or

genetic tendency triggered by other factors?
Inherited Slide: Sex-linked-yes or no; particular chromosome; recessive
or dominant?
Treatment Slide: Medications? Gene therapy?

Diagnostic Tests Slide: What tests are done; genetic counseling?

Frequency in Population Slide: More common in certain group; how

common is it?
Article Slide: New information found from research
Carey Page 19 CP BIO
Genetic Disease: _____________Group Names:_______________ Grader’s
Name:__________

Genetics Disorder Peer Review

Presentation Requirements Earned Possible Comments

Points Points
Introduction 20
 Name the disorder
 Introduce team members
Definition of the disorder 20
 What happens to the body?
 What part of the body does it
generally affect?
Description of the symptoms 10
 List all of the possible effects
on the body
Cause of the disorder 20
 What happens in the body to
cause the disease?
 Is it a mutation? A genetic
tendency triggered by other
factors?
How the disorder is inherited 30
 Is it sex-linked?
 Is there a particular
chromosome it is located on?
 Is it recessive or dominant?
How the disorder is treated 10
 Medications? Gene therapy?
How the disorder is diagnosed 10
 What tests are done? Is
genetic counseling an option?
How many and what type of people 20
are likely to have the disorder
 Is it more common in a certain
group of people?
 How common is it?
Application of research article 10
 What new information did you
learn from your research?

Total Points Earned 150

What did you like about their presentation?

What could this group improve on?