GENETICS DISORDER RESEARCH PROJECT

GENETIC DISORDERRESEARCHMULTIMEDIA PROJECTMelanie RileyHenry County High SchoolRm 214Biology

tionA progressive braindisorder that graduallydestroys a person’smemory and ability tolearn, reason, makejudgments, r-Willi syndrome isan uncommon inheriteddisorder characterized bymental retardation,decreased muscle tone, andlife-threatening obesity.When this geneticmutation is inherited fromthe mother, AngelmanSyndrome arises whichcauses neurologicalproblems including jerkymovements andspontaneous laughter.CeliacDisease(CeliacSprue)A disease that triggers anautoimmune responsethat causes damage to thesmall intestine whencertain types of protein,called gluten, are d angelman/angelmanhttp://ghr.nlm.nih.gov/condition http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call bv.View.ShowSection&rid c.org

RileyCri du chatSyndrome(Cat’s CrySyndrome,Monosomy5p)BIOCri du chat syndrome is agroup of symptoms thatresult from missing a pieceof chromosome number 5.The syndrome’s name isbased on the infant’s cry,which is high pitched andsounds like a hr.nlm.nih.gov/condition nts.htmlCysticFibrosisA recessive genetic diseasein which the exocrineglands of afflictedindividuals produceabnormally thick mucusthat block the intestinesand lung passageways.People with the diseasehave a very hard timebreathing and often diefrom all bv.View.ShowSection&rid is.comDiabetes,type 1(JuvenileDiabetes)and Type 2Diabetes is a chronicmetabolic disorder thatadversely affects thebody's ability tomanufacture and useinsulin, a hormonenecessary for theconversion of food gi?rid jsphttp://ndep.nih.govDownSyndrome(Trisomy 21)Down syndrome is achromosome abnormality,usually due to an extracopy of the 21stchromosome. Thissyndrome usually,although not always,results in mentalretardation and /www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id 190685

RileyBIOconditions.Duchenne &BeckerMuscularDystrophyThe muscular dystrophiesare a group of geneticdiseases characterized byprogressive weakness anddegeneration of theskeletal muscles thatcontrol inic.com/invoke.cfm?id latest/index.htmlFragile XSyndromeFragile X is ahereditary/geneticcondition caused by amutation on the Xchromosome. It can causelearning disabilities, orsevere intellectualcomplications lHemophiliaA or BHemophilia is a rareinherited bleeding disorderthat causes blood problemsin blood ttp://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid gnd.section.95HuntingtonDiseaseA hereditary, degenerativebrain disorder for whichthere is no effectivetreatment or cure. HDslowly diminishes theaffected individual's abilityto walk, think, talk //www.hdfoundation.org

RileyKlinefelterSyndrome(XXYSyndrome)BIOIn addition to occasionalbreast enlargement, lack offacial and body hair, and arounded body type, XXYmales are more likely thanother males to beoverweight, and tend to betaller than their fathers nih.gov/condition 47xxy.org/Maple SyrupUrine DiseaseMaple Syrup Urine Diseaseis an inherited disorder sonamed because one of itsfirst signs is urine that hasan odor reminiscent ofmaple d od/rarediseases1/a/062004.htmObesityObesity is an excess ofbody fat that frequentlyresults in a significantimpairment of id eParkinson's disease is amotor system disorderwhich is the result of theloss of dopamineproducing brain cells.Parkinson’s can causetremors, rigidity, ons disease/parkinsons http://www.parkinson.org/site/pp.asp?c 9dJFJLPwB&b 71117

RileyBIOof movement and / thepi/site/parkinson/Phenylketonuria (PKU)Phenylketonuria is ahereditary disorder inwhich the amino acidphenylalanine isn'tproperly metabolized. As aresult, the amino acid canbuild up to dangerouslevels in the blood andother tissues, causingmental retardation andother serious ylketo.htmlhttp://www.mayoclinic.com/invoke.cfm?id ycystic kidney disease isa genetic disordercharacterized by thegrowth of numerous cystsin the kidneys. The cystscan reduce kidney functionand lead to kidney r.nlm.nih.gov/condition polycystickidneydiseasehttp://www.kidney.orgSickle CellAnemia(Sickle CellDisease)Sickle cell anemia is aninherited disorder thataffects hemoglobin, aprotein that enables redblood cells to carry oxygento all parts of the body,resulting in a low numberof red blood cells andperiodic nethttp://www.sicklecelldisease.org/about eA rare inherited disorderthat causes progressivedestruction of nerve cellsin the brain and spinalwww.ygyh.org/?syndromehttp://www.ntsad.org

RileyBIOcord, found to be morecommon in people ofAshkenazi Jewish heritagethan in those with ssionals/681 1227.asphttp://www.genome.gov/page.cfm?pageID 10001220http://ghr.nlm.nih.gov/condition em/medical/genetic counselinghttp://www.ncbi.nlm.nih.gov/disease/Tay SachsTriple-XSyndrome(Trisomy X)Turner’sSyndromeA rare chromosomalgenetic syndrome with oneor more extra Xchromosomes, leading toXXX (or more rarely XXXXor XXXXX), instead of theusual XX. These people arefemales and can beunaffected, or may sufferfrom problems such asinfertility and reducedmental r syndrome is achromosomal conditionthat exclusively affects girls.It occurs when one of thetwo X chromosomesnormally found in femalesis missing or ttp://www.mayoclinic.com/invoke.cfm?retryCount 2&id AN00351http://ghr.nlm.nih.gov/condition //www.wrongdiagnosis.com/t/triple x rome.org.au/XYYSyndromeA condition in which maleshave two Y chromosomes;side effects include beingmore physically active andhaving a tendency todelayed entID 5199http://my.webmd.com/hw/mens tion p://www.rarediseases.org

RileyBIOOther Disorders and WebsitesAchondroplasia (Dwarfism)AlbinismAdrenal hyperplasiaAutism/ Asperger syndromeCystic FibrosisDown Syndrome (Trisomy 21)Duchenne Muscular DystrophyFamilial DysautonomiaGardner syndrome (intestinal polyposis)Gaucher’s DiseaseHemophiliaHuntington’s DiseaseJacobsen SyndromeKlinefelters SyndromeKlippel-Feil SyndromeLeukodystrophyLou Gehrig’s Disease (ALS)Marfan SyndromeMoebius SyndromePolycystic Kidney DiseaseProgeriaProteus SyndromeRetinoblastomaRett’s SyndromeSpinocerebellar AtaxiaTay-Sachs DiseaseTourette SyndromeTurner SyndromeYahoo - Genetic Disordershttp://dir.yahoo.com/Health/Diseases and Conditions/Genetic Disorders/.Site explains several different disorders and contains links to all of the differenttypes of genetic disorders.Genetic & Rare Conditions Sitehttp://www.kumc.edu/gec/support/.links to different types of disorders in alphabetical order.What can our chromosomes tell amic/offsite.htm?site http://gslc.genetics.utah.edu/.A site that talks about karyotyping of genotypes.Genetic Disorder ers/whataregdTo learn more about different genetic disorders, browse through the GeneticDisorder Library.A Genetics i/dynamic/offsite.htm?site A basic genetic glossary.

RileyBIOGenetics Education Center http://www.kumc.edu/gec/.Seeks to help educate people about genetics.The National Human Genome Research Institute http://www.nhgri.nih.gov/.Explains about the human genome project.Department of Energy - Human Genome Project Information http://www.ornl.gov/hgmis/.Provides a lot of information about the human genome project.A Gene Map of the Human Genome http://www.ncbi.nlm.nih.gov/science96/.You can see the mapping of several different chromosomes found within the body.Learning about the Human Genome Project and Genetics through the World Wide Webhttp://www.kumc.edu/gec/hgpwww.html.Looks at the ethical issues of genetic research.Understanding EPC/NIH/index.html.This site talks of how genes are linked to disease and how a gene creates agenetic disorder.Basics of DNA ngerprint/dnaintro.html.Explains the basic understanding of DNA fingerprinting.

RileyBIOGENETICS DISORDER RESEARCH PROJECTThis unit project focuses on how genetics affects humans directly. Many people are affectedby genetic disorders; you may even have some family members or friends with some of thesediseases. I suggest that you choose a disorder that affects someone you know or intrigues youbecause it is strange or interesting. The goal is to research the disorder and orally presentinformation and recent research through a group PowerPoint or other form of multimedia.Genetics Disorder Job WorksheetPartnerSlides to Make & Present in Given OrderTitle Slide: Project Title, team membersDefinition Slide: What happens to body; part of body affected?Symptom Slide: List of all effects on bodyCause Slide: What happens in body to cause disease; Mutation? Genetic tendencytriggered 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/interesting information found from research

RileyBIOGroup Names:Disorder:Genetics Disorder Grading RubricPresentation RequirementsIntroduction Name the disorder Introduce team membersDefinition of the disorder What happens to the body? What part of the body does itgenerally affect?Description of the symptoms List all of the possible effects onthe bodyCause of the disorder What happens in the body tocause the disease? Is it a mutation? A genetictendency triggered by otherfactors?How the disorder is inherited Is it sex-linked? Is there a particular chromosomeit 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 geneticcounseling an option?How many and what type of people arelikely to have the disorder Is it more common in a certaingroup of people? How common is it?Application of research article What new information did youlearn from your research?Total Points 150Comments

Gaucher’s Disease Hemophilia Huntington’s Disease Jacobsen Syndrome Klinefelters Syndrome Klippel-Feil Syndrome Leukodystrophy Lou Gehrig’s Disease (ALS) Marfan Syndrome Moebius Syndrome Polycystic Kidney Disease Progeria Proteus Syndrome Retinoblastoma Rett’s Syndrome Spinocerebellar Ataxia Tay-Sa