GENETIC DISORDER

RESEARCH POWER
POINT PROJECT

Ms. Hatfield’s Directions

1. Groups of Two

2. Must use Google Slides

3. Must include all details (see Rubric below)

4. Must attach PowerPoint to Google Classroom

5. Fill out pre-research handout

6. Utilize check list (do not turn checklist in)

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7. Must use the following resources for Research

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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
Alzheimer’s http://www.ygyh.org/?syndrome
A progressive brain
Disease disorder that gradually http://www.alz.org
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/alzheimersdisease

http://www.mamashealth.com/Alzheimers

http://www.alzforum.org

http://www.alzinfo.org/

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

Celiac http://www.nlm.nih.gov/medlineplus/celiacdisease
A disease that triggers
Disease an autoimmune http://www.csaceliacs.org/celiac
(Celiac response that causes
damage to the small http://digestive.niddk.nih.gov/ddiseases/pubs/celiac
Sprue)
intestine when certain
types of protein, called http://www.gluten.net/celiac
gluten, are eaten.
http://www.labtestsonline.org/understanding/analytes/celiac

http://www.celiac.org
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Cri du chat Cri du chat syndrome is a http://www.icomm.ca/geneinfo/criduchat

group of symptoms that
Syndrome result from missing a http://ghr.nlm.nih.gov/condition=criduchatsyndrome
(Cat’s Cry piece of chromosome
number 5. The http://gslc.genetics.utah.edu/units/disorders/karyotype/criduc
Syndrome, syndrome’s name is hat.cfm
Monosomy based on the infant’s cry,
5p) which is high pitched and http://www.madisonsfoundation.org
sounds like a cat.
http://www.ncbi.nlm.nih.gov/entrez/query

http://members.tripod.com/%7Eyenial/students.html

Cystic www.ygyh.org/?syndrome
A recessive genetic
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 thick call=bv.View..ShowSection&rid=gnd.section.242
mucus that block the
http://www.cfri.org/home
intestines and lung
passageways. People http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm
with the disease have a
very hard time breathing http://learnaboutcf.tripod.com
and often die from
suffocation. http://www.cysticfibrosis.com

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

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

chromosome abnormality,
Syndrome usually due to an extra http://www.ndss.org
(Trisomy copy of the 21st
chromosome. This http://www.nads.org
21) syndrome usually,
although not always, http://www.down-syndrome.info
results in mental
retardation and other http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?
conditions. id=190685

http://www.nas.com/downsyn/benke.html
Duchenne The muscular dystrophies www.ygyh.org/?syndrome
are a group of genetic
& Becker diseases characterized http://www.ncbi.nlm.nih.gov/disease/DMD.html
Muscular by progressive weakness
and degeneration of the http://www.mdausa.org
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Dystrophy skeletal muscles that

control movement. http://www.mayoclinic.com/invoke.cfm?id=DS00200

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

http://www.parentprojectmd.org/news/latest/index.html

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

hereditary/genetic
Syndrome condition caused by a www.fragilex.org
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
including autism. http://www.nlm.nih.gov/medlineplus/ency/article/001668.htm

http://www.nfxf.org/html

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

inherited bleeding
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

Huntington A hereditary, www.hdsa.org

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

http://www.hdfoundation.org

http://hdlighthouse.org
Klinefelter In addition to occasional http://www.aaa.dk/TURNER/ENGELSK/INDEX.HTM
breast enlargement, lack
Syndrome of facial and body hair, http://www.nichd.nih.gov/publications/pubs/klinefelter.htm
(XXY and a rounded body type,
XXY males are more http://www.genetic.org/ks/scvs/47xxy.htm
Syndrome) likely than other males to
be overweight, and tend http://www.nlm.nih.gov/medlineplus/klinefelterssyndrome.ht
to be taller than their ml
fathers and brothers.
http://ghr.nlm.nih.gov/condition=klinefeltersyndrome

http://www.ksa-uk.co.uk/
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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/maplesyrupurined
signs is urine that has an esease.html
Disease odor reminiscent of maple
syrup. http://www.msud-support.org/

http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm

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

http://rarediseases.about.com/od/rarediseases1/a/062004.ht
m

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

body fat that frequently rid=gnd.section.232
results in a significant
impairment of health. http://www.cdc.gov/genomics/info/perspectives/obesity.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’s Parkinson's disease is a http://www.ninds.nih.gov/disorders/parkinsons_disease/parki

motor system disorder nsons_disease
Disease which is the result of the
loss of dopamine- http://www.apdaparkinson.org/user/index.asp
producing brain cells.
Parkinson’s can cause http://www.parkinson.org/site/pp.asp?
tremors, rigidity, slowness c=9dJFJLPwB&b=71117
of movement and
postural instability. http://www.michaeljfox.org/

http://www.parkinsonalliance.org/

http://altrue.he.net/~thepi/site/parkinson/

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

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

Polycystic Polycystic kidney disease www.ygyh.org/?syndrome

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

http://ghr.nlm.nih.gov/condition=polycystickidneydisease

http://www.kidney.org

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

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

http://ghr.nlm.nih.gov/ghr/disease/sicklecellanemia

Tay-Sachs www.ygyh.org/?syndrome
A rare inherited disorder
Disease that causes progressive http://www.ntsad.org
destruction of nerve cells
in the brain and spinal http://www.marchofdimes.com/professionals/681_1227.asp
cord, found to be more
http://www.genome.gov/page.cfm?pageID=10001220
common in people of
Ashkenazi Jewish http://ghr.nlm.nih.gov/condition=taysachsdisease
heritage than in those
with other backgrounds. http://www.ninds.nih.gov/disorders/taysachs/taysachs

http://kidshealth.org/parent/system/medical/genetic_counseli
ng

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

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

genetic syndrome with
Syndrome one or more extra X http://www.mayoclinic.com/invoke.cfm?
(Trisomy X) chromosomes, leading to retryCount=2&id=AN00351
XXX (or more rarely
XXXX or XXXXX), http://ghr.nlm.nih.gov/condition=triplexsyndrome
instead of the usual XX.
These people are http://www.madisonsfoundation.org
females and can be
unaffected, or may suffer http://www.med.umich.edu/1libr/yourchild/xxxsyn
from problems such as
infertility and reduced http://www.wrongdiagnosis.com/t/triple_x_syndrome/intro
mental acuity.
Turner’s Turner syndrome is a http://www.aaa.dk/TURNER/ENGELSK/INDEX
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Syndrome chromosomal condition

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

http://www.turnerssyndrome.org.au/

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

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

http://www.rarediseases.org
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Group Names: ________________________ Disorder: _______________

Genetics Disorder Grading Rubric

Presentation Requirements Earned Possible Comments
Points Points
Introduction 1
 Name the disorder
 Introduce team members
Definition of the disorder 2
 What happens to the body?
 What part of the body does it
generally affect?
Description of the symptoms 2
 List all of the possible effects on
the body
Cause of the disorder 3
 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 3
 Is it sex-linked?
 Is there a particular
chromosome it is located on?
 Is it recessive or dominant?
How the disorder is treated 2
 Medications? Gene therapy?
How the disorder is diagnosed 2
 What tests are done? Is genetic
counseling an option?
How many and what type of people are 2
likely to have the disorder
 Is it more common in a certain
group of people?
 How common is it?
Application of research article 3
 What new information did you
learn from your research?

Total Points Earned 20