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GENETIC DISORDERS 1 Genetic disorders Ivette Rodriguez Sport and Medical Sciences Academy November 14th, 2016 GENETIC DISORDERS 2 Genetic Disorders In the medical field there are about 6,000 genetic disorders (Nussb
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  GENETIC DISORDERS1Genetic disordersIvette RodriguezSport and Medical Sciences Academ Novem!er 1 t# $ %&1'  GENETIC DISORDERS%Genetic DisordersIn t#e medical (ield t#ere are a!out '$&&& genetic disorders )Nuss!aum$ %&&*+, A genetic disorder is a disease caused in -#ole or part ! a c#ange in t#e DNA se.uence a-a (rom t#e normal se.uence, Genetic disorders can !e caused ! a mutation in one gene$ ! mutations in multiple genes$ ! a com!ination o( gene mutations and environmental (actors$ or ! damage to c#romosomes )genome,gov+, Monogenetic disorders are cause ! a mutation in a single gene and t#e mutation ma !e  present on one or !ot# c#romosomes )genome,gov+, Ta/sac#s disease is a rare in#erited disorder t#at progressivel destros nerve cells )neurons+ in t#e !rain and spinal cord )g#r,nlm,ni#,gov$ %&1'+, T#e most common (orm o( Ta/sac#s disease #appens during in(anc, T#e signs o( t#e disorder are not apparent until t#e age o( 0 to ' mont#s$ t#at is -#en t#eir development slo-s and muscles used (or movement -eaen, T#e in(ant loses motor sills suc# as turning over$ sitting and cra-ling )genome,gov+, To diagnose a patient -it# t#e disease a !lood test can !e taen to measure t#e !od2s level o( #e3oaminidase A patients -it# Ta/Sac#s s#ould lac most o( t#is protein, A doctor can also conduct an ee e3amination to see i( t#e patient #as t#e classic c#err red spot in t#e center o( t#e ee2s macula, 4renatal diagnosis and even preimplantation genetic diagnosis is more complicated )m,clevelandclinic,org+, Multi(actorial in#eritance disorders are caused ! a com!ination o( small in#erited variations in genes$ o(ten acting toget#er -it# environmental (actors )genome,gov+, Dia!etes is a common multi(actor in#erited disorder, Tpe 1 dia!etes )T1D+ is an autoimmune disease in -#ic# a person2s pancreas stops producing insulin$ a #ormone t#at ena!les people to get energ (rom (ood, It occurs -#en t#e !od2s immune sstem attacs and destros t#e insulin/producing cells in t#e pancreas$ called !eta cells, 5#ile its causes are not et entirel understood$ scientists  !elieve t#at !ot# genetic (actors and environmental triggers are involved )6dr(,org$ %&1'+, Tpe 1dia!etes can a((ect !ot# c#ildren and adult at an age, 4eople -#o #ave t#is disease must  GENETIC DISORDERS0care(ull !alance insulin doses eit#er -it# insulin or -it# a pump -#et#er eating or ot#er activities t#roug#out t#e da, Measuring t#eir !lood/glucose levels is also important ! pricing t#eir (ingers (or !lood si3 or more times a da )6dr(,org+, Signs t#at s#ould alert someone -it# T1D are e3treme t#irst$ dro-siness7 increased appetite$ sudden vision c#anges$ and sudden -eig#t lose, T#e statistics s#o- #o- #ig# t#e rate is (or people -it# T1D, 1, %8M Americans are living -it# T1D including a!out %&&$&&& out# less t#an %& ears old and over a million adults$ &$&&& people ever ear are diagnosed #ere in t#e 9,S$ and a!out 8 million people in t#e 9,S are e3pected to #ave T1D ! %&8&$ including nearl '&&$&&& out# ):dr(,org+,C#romosome disorders are caused ! an e3cess or de(icienc o( t#e genes t#at are locatedon c#romosomes or ! structural c#anges -it#in c#romosomes )genome,gov+, T#e most commonl no- c#romosome disorder is Do-n sndrome, Do-n sndrome occurs -#en an individual #as a (ull or partial e3tra cop or c#romosome %1, T#e e3tra c#romosome alters t#e course o( development and causes t#e c#aracteristics o( Do-n sndrome, Some o( t#e p#sical traits associated -it# Do-n sndrome -ould !e lo- muscle tone$ small stature$ an up-ard slant to t#e ees$ and a single deep crease across t#e palm )ndss,org+, T#ere are t#ree di((erent inds o( Do-n sndrome; trisom %1)nondis:uction+$ translocation$ and mosaicism, Nondis:uction results in an em!ro -it# t#ree copies o( c#romosome %1 instead o( t#e usual t-o, 4rior to or at conception$ a pair o( %1 st  c#romosomes in eit#er t#e sperm or t#e egg (ailed to separate )ndss,org+, <8= o( Do-n sndrome cases are trisom )ndss,org+, Mosaic Do-n sndrome is diagnosed -#en t#ere is a mi3ture o( t-o tpes o( cells$ some containing t#e usual ' c#romosomes and some containing * )ndss,org+, Mosaicism is t#e least common (orm o( Do-nsndrome and accounts (or onl a!out 1= o( all cases, In Translocation$ t#is accounts (or a!out = o( Do-n sndrome cases$ t#e total num!er o( c#romosomes in t#e cells remain '7 #o-ever$ an additional (ull or partial cop o( c#romosome %1 attac#es to anot#er c#romosome$ usuall  GENETIC DISORDERS c#romosome 1 )ndss,org+, Ne- advanced prenatal screens are no- a!le to detect c#romosomal material (rom t#e (etus t#at is circulating in t#e maternal !lood )ndss,org+, T#e diagnostic  procedures availa!le (or prenatal diagnosis (or Do-n sndrome are c#ronic villus sampling and amniocentesis, T#ese procedures$ -#ic# carr up to 1= ris o( causing a spontaneous termination$ are nearl 1&&= accurate in diagnosing Do-n sndrome, Amniocentesis is usuall  per(ormed in t#e second trimester !et-een 18 and %& -ees o( gestation$ C>S in t#e (irst trimester !et-een < and 1 -ees )ndss,org+, Anot#er c#romosome disorder t#at is no-n is c#ronic meloid leuemia, C#ronic meloid leuemia is caused ! a rearrangement o( genetic material !et-een c#romosome < and %%, In CM?$ a genetic c#ange taes place in an earl version o( meloid cells @ t#e cells t#at mae red !lood cells$ platelets$ and most tpes o( -#ite  !lood cells, T#e leuemia cells gro- and divide$ !uilding up in t#e !one marro- and spilling over into t#e !lood, CM? is a (airl slo- gro-ing leuemia$ !ut it can also c#ange into a (ast gro-ing acute leuemia t#at is #ard to treat )cancer,org+, Due to genetic testing t#ere are certain la-s t#at protect discrimination against t#e !a! and also t#ose -#o #ave genetic disorders in t#eir genes, T#e genetic in(ormation nondiscrimination act o( %&&$ also re(erred to as GINA$ is a ne- (ederal la- t#at protects Americans (rom !eing treated un(airl !ecause o( di((erences in DNA t#at ma a((ect t#eir #ealt#, T#e ne- la- prevents discrimination (rom #ealt# insurers and emploers, Be(ore t#e (ederal la-s -ere passed$ man states #ad passed la-s against genetic discrimination, T#e degree o( protection (rom t#ese la-s varies -idel among t#e di((erent states, T#e (ederal la- sets a minimum standard o( protection t#at must !e met in all states, It does not -eaen t#e  protections provided ! an state la- )genome,gov+,
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