Human Genome Project Drug Development

8/18/2019 Human Genome Project Drug Development

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WHAT IS THE IMPACT OF THEHUMAN GENOME PROJECTFOR DRUG DEVELOPMENT?

Arman & Fin


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What is th H!man Gn"m Pr"#$t?

Th genome is th $"%%$ti nam '"r a%% th (ns in thst "' $hr"m"s"ms "' an in)ii)!a%* in$%!)in( +"siti"nsan) s,!n$s "' (ns "n th $hr"m"s"ms as -%% asth .as s,!n$s -ithin th (ns

Th H!man Gn"m Pr"#$t /HGP0 .(an in 1234 an)initia% ana%5sis "' th ntir st "' h!man (nti$instr!$ti"ns -as +!.%ish) in F.r!ar5 6771


3/11

Main aims "' th HGP8

T"8

I)nti'5 a%% th (ns in h!man DNA Ma+ th +"siti"ns "' th (ns "n a%% th h!man

$hr"m"s"ms9

Dtrmin th s,!n$s "' th $hmi$a% .as +airs thatma: !+ h!man DNA

D%"+ s!ita.% t$hn"%"(i$a% t""%s '"r ana%5sis an)s!.s,!nt !s "' th (n"m

St"r th DNA in'"rmati"n in s!ita.% )ata.ass '"r as5

rtria% an) ana%5sis Ma: th t$hn"%"(i$a% an) (n"m in'"rmati"n aai%a.% t"

a%% intrst) +artis* in$%!)in( .i"t$hn"%"(ists*in)!stria%ists* +harma$ists an) th m)i$a% +r"'ssi"n

A))rss th thi$a%* %(a% an) s"$ia% iss!s that ma5 aris

'r"m th +r"#$t


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O!t$"ms "' th HGP

It -as initia%%5 th"!(h that it -"!%) ta:!+-ar)s "' 67 5ars t" )$i+hr th '!%%h!man (n"m .!t )! t" )%"+mnts in

.i"in'"rmati$s* +r"(rss -as m"r ra+i) In 6771 a -"r:in( )ra't "' th h!man

(n"m -as +!.%ish) ; -"r: $"ntin!s-ith s"m s$ti"ns 22922< a$$!rat

S,!n$ is imm)iat%5 +!.%ish) "n%in*ma:in( it a 'r%5 aai%a.% rs"!r$ t"s$intists ar"!n) th -"r%)


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Dis$"ris

Th h!man (n"m is n"- th"!(ht t" .ar"!n) = 677 777 777 .ass %"n( an) t"$"ntain 67 777 t" 6> 777 (ns

An ara( h!man (n is ar"!n) =777 .assin %n(th .!t (rat %%s "' ariati"n "$$!r

F!n$ti"n "' m"st (ns sti%% !n:n"-n

Ar"!n) 19 mi%%i"n %"$ati"ns -hr SNPs ha

.n %"$at) N"n@$")in( s,!n$s ma: !+ at %ast >7<

"' th h!man (n"m9


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I)nti$ati"n "' n- (ns

Man5 )isas (ns ha .n i)nti)*in$%!)in( th .rast $an$r (n BCRA6 an) tht"ta% $"%"!r .%in)nss (ns GNGA= an) GNGB=9Sra% (ns ass"$iat) -ith Par:ins"ns )isas

ha a%s" .n i)nti) in$%!)in( DJ1 an) PIN19 N"- +"ssi.% '"r a $an)i)at (n that ma5 $a!s

a +arti$!%ar )isas t" . %"$at) an) thns$rn) '"r m!tati"ns in a$t) in)ii)!a%s9

Thr"!(h this mth") si (ns ha .ni)nti) t" in$ras s!s$+ti.i%it5 t" A%himrs)isas9


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I)nti$ati"n "' n- )r!( tar(ts

Dr!( tar(t is a s+$i$ m"%$!% -ith -hi$h a )r!(intra$ts

B'"r th )ra't h!man DNA s,!n$ -as+!.%ish) thr -r "n%5 >77 )r!( tar(ts

S$intists ha a%ra)5 )is$"r) th"!san)s "'n- an) +"tntia% )r!( tar(ts9

In 6773 a st!)5 i)nti) 37 (ns -hi$h in!n$th '"rmati"n "' th +r"tin a%+ha@s5n!$%in* -hi$h

a$$!m!%ats in th .rains "' Par:ins"ns )isas+atints9 Insti(atin( th (ns ma5 %a) t" n-)r!( tar(ts t" )%"+ a $!r '"r th )isas9


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Prntati m)i$in &im+r") )r!( )%"+mnt

Pharma$"(n"mi$s is th st!)5 "' h"- (ns a$t a+rs"ns rs+"ns t" )r!(s9In s"m +"+% a )r!( -"r:s -%% -ith '- si) a$ts* in"thrs th sam )r!( is in$ti an) has ma#"r si) a$ts This ma5 . )! t" )irn$s in th in)ii)!a%s (n"m*)+n)in( "n -hi$h "' th 19 mi%%i"n SNPs a +rs"n+"sssss9 Dr!( +rs$ri+ti"n is .as) "n a r$"r)) s5stm"' tria% an) rr"r9It is h"+) that in'"rmati"n a."!t a +rs"ns (n"m -i%%

na.% )"$t"rs t" +rs$ri. th ri(ht )r!( at th $"rr$t )"s9I' +"+% :n- a."!t thir m!tati"ns ass"$iat) -ith a+arti$!%ar )isas* th5 ma5 . a.% t" ma: %i'st5%$han(s "r "+t '"r +rntati tratmnt in "r)r t" r)!$thir ris: "' )isas9


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S"$ia%* m"ra% an) thi$a% iss!s -ith thist$hn"%"(58

A$$ss t" in'"rmati"n r(ar)in( an in)ii)!a%s (n"m an)h"- it sh"!%) . !s)9

C"n)ntia%it5 "' 5"!r (nti$ in'"rmati"n ; n"t )istri.!t)-ith"!t +rmissi"n9

Gnti$ )is$riminati"n ; s"$itis i-s "n (nti$in'"rmati"n ma5 $han( an) %a) t" s"$ia% )+riati"n "'+"+% -ith (nti$ im+r'$ti"ns "r $a!s thm t" .sti(matis)9

F"ta% (nti$ tstin( ; m!st ma: +"tntia% +arnts a-ar "'

th a$$!ra$5 an) r%ia.i%it5 "' th tsts an) .'"r in)ii)!a%s(i $"nsnt '"r +r"$)!rs th5 m!st . a),!at%5in'"rm) a."!t $"m+% an) $"ntr"rsia% +r"$)!rs* an)h"- t" assss (nti$ in'"rmati"n '"r r+r")!$ti )$isi"nsan) a."!t th r+r")!$ti ri(hts "' +arnts an) $hi%)rn9


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S"$ia%* M"ra% an) thi$a% iss!s -ith thist$hn"%"(58

Gnti$ tsts m!st . r%ia.% an) intr+rta.%.5 m)i$a% +r"'ssi"na%s -h" m!st . train) "nim+%i$ati"ns an) $a+a.i%itis "' (nti$in'"rmati"n9

Sh"!%) tsts . $arri) "!t '"r a)!%t "nst)isass )isass -ith n" tratmnts? ;Ar(!a.%5 n"t th +arnts $h"i$$"!%) $a!s!nn$ssar5 strss* a%s" tsts ma5 n"t r%ia.%9

Gns $a!sin( )isas ; ar th5 a$$+ta.% '"r(nti$ )irsit5?; is mis.hai"!r )! t" (nsis it a.% t" . $"ntr"%%)? ; ar th5 n$ssar5?

P!.%i$iin( "' (n"ms ; ma5 %a) t"

$"mmr$ia%isati"n "' +r")!$ts* ri(hts an) +atnts


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Human Genome Project Drug Development

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