GENETICSDISORDERRESEARCHPROJECT

Thisunitprojectfocusesonhowgeneticsaffectshumansdirectly.Manypeopleare
affectedbygeneticdisorders;youmayevenhavesomefamilymembersorfriendswithsome
ofthesediseases.Isuggestthatyouchooseadisorderthataffectssomeoneyouknowor
intriguesyoubecauseitisinterestingtoyou.Thegoalistoresearchthedisorderandorally
presentinformationandrecentresearchthroughsomevisualmedia.

GENETICSDISORDERTOPICSHEET

1. Whatgeneticdisorderareyouresearching?(Selectfromtheprovidedlist.)
Waardenburgsyndrome

2. Whoisyourpartner(ornone)?
None
(Limit=2people/disorder)

GENETICSDISORDERRESEARCHNOTECATCHERCITEALLSOURCES

ResearchSite1(URL)
:https://rarediseases.org/rarediseases/waardenburgsyndrome/

PresentationRequirements
Addyourown,too.

Research

Definitionofthedisorder
Whathappenstothebody?
Whatpartofthebodydoesitgenerally
affect?

WaardenburgSyndromegenerallyaffectstheface.
WaardenburgSyndromecancreatehearingloss,
changesinhaircolorandeyecolor.

Descriptionofthesymptoms
Listallofthepossibleeffectsonthebody

Diminishedpigmentationinhair,skin,andeyes.
Deafness
Roundednasaltip
Abnormalsmoothnessofupperlip.
ThePAX3geneisfoundonthelongarmofchromosome2.Whenthisgene
mutates,itcreatesWaardenburgSyndrome.

Causeofthedisorder
Whathappens
inthebody
tocausethe
disease?
Isitamutation?Agenetictendency
triggeredbyotherfactors?
Howthedisorderisinherited
Isitsexlinked?
Isthereaparticularchromosomeitis
locatedon?
Isitrecessiveordominant?

Waardenburgsyndromeisanautosomaldominanttraitthatisinherited.Itis
locatedonchromosome2.

Howthedisorderistreated
Medications?Genetherapy?

Thetreatmentdependsonthesymptoms.Forinstance,ifthereishearing
problemstherewillbeahearingspecialist.Ifthereareeyeproblemsthere
willbeaneyedoctor.

Howthedisorderisdiagnosed
Whattestsaredone?Isgeneticcounseling
anoption?

Thedisorderisdiagnosedatbirthorearlyagebyathoroughclinicaltrialthat
addressesthephysicalappearances.

Howmanyandwhattypeofpeoplearelikelytohave
thedisorder
Isitmorecommoninacertaingroupof
people?
Howcommonisit?

Waardenburgsyndromeaffects1in40,000people.Thedisorderappearsto
affecteverybodyequally.

GENETICSDISORDERRESEARCHNOTECATCHERCITEALLSOURCES

ResearchSite2(URL)
:http://emedicine.medscape.com/article/950277overview

PresentationRequirementsAddyourown,too.

Research

Definitionofthedisorder
Whathappenstothebody?
Whatpartofthebodydoesitgenerally
affect?

Waardenburgsyndromemakesyouloseyourhearing,and
canchangeyourlook.Itmostlyaffectstheface.

Descriptionofthesymptoms
Listallofthepossibleeffectsonthebody

Hearingloss,displacementoftheeyesandpigmentary
differences.

Causeofthedisorder
Whathappens
inthebody
tocausethe
disease?
Isitamutation?Agenetictendency
triggeredbyotherfactors?

MutationsingenescausethedifferentformsofWaardenburgsyndrome.

Howthedisorderisinherited
Isitsexlinked?
Isthereaparticularchromosomeitis
locatedon?
Isitrecessiveordominant?

Itissexlinked
Autosomaldominant
PAX3genelocatedonchromosomeband2q35

Howthedisorderistreated
Medications?Genetherapy?

Articledoesnotsay.

Howthedisorderisdiagnosed
Whattestsaredone?Isgeneticcounseling
anoption?

Articledoesnotsay.

Howmanyandwhattypeofpeoplearelikelytohave
thedisorder
Isitmorecommoninacertaingroupof
people?
Howcommonisit?

1.192.08per10,000persons
Articledoesnotsayifitismorecommoninacertaingroup
ofpeople.

PAX3,

MITF
,
EDN3
,
EDNRB
,
SOX10
,and
SNAI2arethe
genes.
MostcasesofWaardenburgSyndromearecausedby
mutationsinthePAX3genelocatedonchromosomeband
2q35.

ForabetterchanceofanAdvancedGrade:Interviewsomeonewiththedisorderorafamilymember
ofthatpersonandincludedetailsofhowithelpedyouunderstandthedisorderandhowitaffectsa
personslife.Alternatively,IFthedisorderistooraretofindsomeonetointerview,comeupwith
interviewquestionsandfindanswerstothosequestions.Youcanputyourinterviewinasimilar
formatastheCysticFibrosisCaseStudyinsection2.8.Youmaywanttostarthere:
http://www.ncbi.nlm.nih.gov/books/NBK1116/

Hello,
My name is Jonathan. I am 12 years old and I like to write stories. Someday I would like to
be known as one of the greatest writers ever. The only problem is, I have Waardenburg
Syndrome. Waardenburg Syndrome is a genetic mutation that prevents me from hearing well,
and makes my eyes two different colors, which is pretty cool. Waardenburg Syndrome
makes it especially hard for me to communicate with people. I also get looked at funny by
some people because I do not look like normal. I have a hearing doctor that comes and
helps me will my hearing. I have to do exercises every day, and sometimes these exercises
can be very hard to do. Sometimes my family goes out to eat and I have a hard time
communicating to the waiter what I want. People can also get very annoyed at me
sometimes because I cant hear them. Waardenburg Syndrome is very hard to get past, and
I hope doctors find a cure for it, but in the meantime, Im going to live my life just like anyone
else.
Thanks for reading,
Jonathan
Dearall,
Mychild,Jonathan,hasWaardenburgSyndrome.Wefoundthisoutwhenhewasfirstborn.Waardenburg
Syndromeisageneticmutationfoundinonlyoneof40,000people,affectingonlyabout175,000
worldwide.WaardenburgSyndromeisanautosomaldominanttrait,meaningitisfoundononeofthe
numberedchromosomes,notoneofthesexchromosomes.WaardenburgSyndromeisamutationofthe
PAX3genelocatedonthelongarmofchromosome2.
PeoplewithWaardenburgSyndromeusuallyhavelossofhearingandchangeinhairandeye
pigmentation.Inthehair,mostpeoplewithWShaveawhitestreakrightdownthemiddlewithblackhair
surroundingit.PeoplewithWSalsohaveeitherverybrightblueeyesordifferentcoloredeyes.The
treatmentsincludeeitherhearingspecialistsoreyedoctors.Thetherapiesdonottakeawaythesymptoms.
ResearchersarestilllookingforthecuretothemutationofWaardenburgSyndrome.Ourfamilyhopes
theydo,andwewillcontinuetosupportJonathaneveryday.
Sincerely,
JonathansDad,Harold

YouwillhavetimeonWednesdaysinclasstoworkwithyourpartnertosharetheresearchandwork
togetherasneeded.ThetwoWednesdaysthatyouwillhaveinclassareDecember2ndand
December9th.OnDecember10th

,bepreparedtopresenttopeerstoreceivefeedbackandtomake
anynecessaryfinalchangespriortopresentingtotheclass.Presentationsforagradewillbeginon
December10th

November20th
:FirstdayinclassDisorderwillbeassigned,researchtobegin.
Findarticleondisordertoreadand
completetheGeneticsDisorderArticleWorksheet.
November23rd
:GeneticCounselorpresentation.Cometoclasswithquestionsaboutthedisorder.
December2nd
:Continueresearchandbuildingthepresentationasneeded.
December9th
:Allresearchshouldbecompleted,finishbuildingthepresentation.Preliminary
presentation(practice)tocolleaguestoreceivefeedbackandmakefinalchanges.
December10th
:Presentationstotheclassbegin.Orderofpresentationstobedeterminedlater.Wemaynothaveall
December11th
:Lastdayofpresentations.

GeneticsDisorderArticleWorksheet
Insertlinktoarticlehere:http://ghr.nlm.nih.gov/condition/waardenburgsyndrome
~
DIRECTEDREADINGTHINKINGACTIVITY~
NOTE:TOFINDANARTICLEONYOURDISORDER,YOUMAYNEEDTOSEARCHUNDERTHENEWSTAB.
PREDICTING
:BEFOREYOUREADTHEARTICLEFOCUSEDONYOURGENETICDISEASE,ANSWERTHESEQUESTIONS.CHOOSEONE
PERSONTOBETHERECORDER.

1. WHAT
I
STHETITLEOFTHEARTICLE?
WAARDENBURGSYNDROME
2. WHATJOURNAL,MAGAZINE,ORWEBSITEISTHEARTICLEFOUNDIN?
GHR.NLM.NIH.GOV
3. Howdoyouknowitisareliableresource?
Itisfroma.govwebsite,whichIamquite
certainisthemostreliable.
4. WHATDOYOU
PREDICT
THEARTICLEISABOUT,JUSTBYLOOKINGATTHETITLE,GRAPHICS,ANDTHEFIRSTSENTENCE?
ITHINKTHEARTICLEISABOUTWHATWAARDENBURGSYNDROMEISANDWHATITDOES.

5.WHATQUESTIONORQUESTIONSDOYOU
PREDICT
THEARTICLEWILLTRYTOANSWER?

WHATISWAARDENBURGSYNDROME?

WHATCAUSESWAARDENBURGSYNDROME?

WHATARETHESYMPTOMSOFWAARDENBURGSYNDROME?

READING
:
1. READTHEARTICLEWITHYOURPARTNER(IFYOUHAVEONE);TAKETURNSHAVINGONEPERSONREADAPARAGRAPH
OUTLOUDANDWRITEDOWN
NEWINFORMATION
YOULEARNEDABOUTYOURDISORDER.
WAARDENBURGSYNDROMECAUSESHEARINGLOSSANDCHANGESCOLOROFHAIR,EYES,ANDSKIN.
WAARDENBURGSYNDROMEAFFECTSONEIN40,000PEOPLE.
WAARDENBURGSYNDROMEHASARECESSIVEALLELE.
THEREARE4TYPESOFWAARDENBURGSYNDROME.
TYPES1AND2OFWAARDENBURGSYNDROMEARETHEMOSTCOMMON.

CHECKPREDICTIONS
:
1. LOOKATTHE
PREDICTING
SECTION.LISTTHEPREDICTIONSTHATWERECORRECTABOUTTHEARTICLE.

WHATISWAARDENBURGSYNDROME?

WHATCAUSESWAARDENBURGSYNDROME?

GeneticsDisorderSelfEvaluation
UsethispagetotrackyourprogressandmakesureyouincludetherequiredinformationUsethescoresyougiveyourselfto
refertolaterandguideyournextstepinyourresearch.Thepointspossibleisjusttohelpyouguidehowmuchinformationyou
mightwantinthatcategory.
PresentationRequirements
CumulativeResearch
Points
Definitionofthedisorder

Whathappenstothebody?

Whatpartofthebodydoesit
generallyaffect?
2Sites:_________________________________
____________________________________

______
20

Descriptionofthesymptoms

Listallofthepossibleeffectsonthe
body
2Sites:_________________________________
____________________________________
Causeofthedisorder

Whathappens
inthebody
tocause
thedisease?

Isitamutation?Agenetic
tendencytriggeredbyotherfactors?
2Sites:_________________________________
____________________________________
Howthedisorderisinherited

Isitsexlinked?

Isthereaparticularchromosomeit
islocatedon?

Isitrecessiveordominant?
2Sites:_________________________________
____________________________________
Howthedisorderistreated

Medications?Genetherapy?
2Sites:_________________________________
____________________________________
Howthedisorderisdiagnosed

Whattestsaredone?Isgenetic
counselinganoption?
2Sites:_________________________________
____________________________________
Howmanyandwhattypeofpeoplearelikelyto
havethedisorder

Isitmorecommoninacertain
groupofpeople?

Howcommonisit?
2Sites:_________________________________
____________________________________
Applicationofresearcharticle

Whatnewinformationdidyou
learnfromyourresearch?
2Resource:______________________________
____________________________________

______
10

______
20

______
30

______
10

______
10

______
20

______
10

TotalPointsEarned

_____
130

GeneticsDisorderJobWorksheet
Partner

Topics:EXAMPLEquestions

TitleSlide
:ProjectTitle,teammembers
DefinitionSlide
:Whathappenstobody;partofbodyaffected?
SymptomSlide
:Listofalleffectsonbody
CauseSlide
:Whathappensinbodytocausedisease;Mutation?Genetic
tendencytriggeredbyotherfactors?
InheritedSlide
:Sexlinkedyesorno;particularchromosome;recessive
ordominant?
TreatmentSlide
:Medications?Genetherapy?
DiagnosticTestsSlide
:Whattestsaredone;geneticcounseling?

FrequencyinPopulationSlide
:Morecommonincertaingroup;how
commonisit?
ArticleSlide
:Newinformationfoundfromthisarticle.

GeneticsDisorderPresentationChecklist

TeamMember1:___________________________________________________________________

GeneticDisorder:__________________________________________________________________

TopicstoPresentinGivenOrder(Suggestion)

Title
:ProjectTitle,teammembers

Definition
:Whathappenstobody;partofbodyaffected

Symptom
:Listofalleffectsonbody

Cause
:Whathappensinbodytocausedisease;mutation?Genetictendencytriggeredby
otherfactors?

Inherited
:Sexlinkedyesorno;particularchromosome;recessiveordominant?

Treatment
:Medications?Genetherapy?

DiagnosticTests
:Whattestsaredone;geneticcounseling?

FrequencyinPopulation
:Morecommonincertaingroup;howcommonitis

Article
:Newinformationfoundfromresearch

GeneticsDisorderPowerPointChecklist

TeamMember2(ifapplicable):_______________________________________________________

GeneticDisorder:__________________________________________________________________

SlidestoMake&PresentinGivenOrder(Suggestion)

Title
:ProjectTitle,teammembers

Definition
:Whathappenstobody;partofbodyaffected

Symptom
:Listofalleffectsonbody

Cause
:Whathappensinbodytocausedisease;mutation?orgenetictendencytriggeredby
otherfactors?

Inherited
:Sexlinkedyesorno;particularchromosome;recessiveordominant?

Treatment
:Medications?Genetherapy?

DiagnosticTests
:Whattestsaredone;geneticcounseling?

FrequencyinPopulation
:Morecommonincertaingroup;howcommonisit?

Article
:Newinformationfoundfromresearch

GeneticDisease:________________GroupName(s):______________________________________

Grader(s)Name(s):____________________________________

GeneticsDisorderPeerReview(duringpracticepresentation)

PresentationRequirements

Earne
d
Points

Possible
Points

Commentsand/orwhatyou
learnedfromthepresentation

Introduction
Namethedisorder
Introduceteammembers
Definitionofthedisorder
Whathappenstothebody?
Whatpartofthebodydoesit
generallyaffect?
Descriptionofthesymptoms
Listallofthepossibleeffects
onthebody
Causeofthedisorder
Whathappens
inthebody
to
causethedisease?
Isitamutation?Agenetic
tendencytriggeredbyother
factors?
Howthedisorderisinherited
Isitsexlinked?
Isthereaparticular
chromosomeitislocatedon?
Isitrecessiveordominant?
Howthedisorderistreated
Medications?Genetherapy?
Howthedisorderisdiagnosed
Whattestsaredone?Is
geneticcounselinganoption?
Howmanyandwhattypeofpeople
arelikelytohavethedisorder
Isitmorecommoninacertain
groupofpeople?
Howcommonisit?
Applicationofresearcharticle
Whatnewinformationdidyou
learnfromyourresearch?

/20

/20

/10

/20

/30

/10

/10

/20

/10

TotalPointsEarned

Whatdidyoulikeabouttheirpresentation?

Whatcouldthisgroupimproveon?

/150