Slideset: Genomic Risk Assessment for the Child Neurologist

7/28/2019 Slideset: Genomic Risk Assessment for the Child Neurologist

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Lb`aegcs oar tjb

Cjgmd @buramalgst;Lb`btgc Xgsf Issbsseb`t


2/50

Oicgmgtitar*s'

@ieb

Bxpbrtgsb

Crbdb`tgims

Tgtmbs


3/50

@buramalgc ca`dgtga`s irb caepmbx dgsbisbs


4/50

Spbctrue ao Lb`btgc Ca`trghutga`

LB@B

Orbqub`cy

^b`btri`cb

LB@B

LB@B


5/50

@buramalgcim ca`dgtga`s b`caepiss imm

g`jbrgti`cb pittbr`s

Iutasaeim Daeg`i`t

Z%Mg`fbd


6/50

\arfsjap A`b;

Lb`btgcs / Xgsf Issbsseb`t


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Xgsf Issbsseb`t

Mbir`g`l Ahkbctgvbs

9. Tifb i oiegmy jgstary wgtj suoogcgb`t dbtigm

8. Xbcal`gzb lb`btgc rbd omils

3. Iìmyzb i dbtigmbd oiegmy jgstary

4. Dbvbmap i` ippraprgitb bvimuitga` pmi` hisbd a`pbrsaìm i`d oiegmy jgstary issbsseb`t

2. Caeeu gcitb wgtj oiegmgbs ihaut lb`btgc gòareitga`


8/50


9/50

Isf tjb rgljt qubstga`s


10/50

3 ya eimb

Dbvbmapeb`tim dbmiyOieJx; `blitgvb oar GD!DD

Cmg`gcim Scb`irga; Kasbpj


11/50

Jgstary

Hgrtj Jgstary;

àreim

Dbvbmapeb`tim Jgstary;

jbirg`l àreim

lrass eatar egmbsta`bs a` tgeb

ci`àt drbss jgesbmo

spbbcj dbmiy

hbjivgarim prahmbes- sucj is jypbrictgvgty i`d tbepbr ti`trues

Sacgim Jgstary;

Kasbpj mgvbs wgtj jgs pirb`ts i`d jgs amdbr sgstbr

hatj B`lmgsj i`d Spi`gsj irb spafb` g` tjb jaeb

îst Ebdgcim Jgstary;

u`rbeirfihmb


12/50

\jit qubstga`s waumd yau isf ihaut

Kasbpjs oiegmy jgstary1

^mbisb cjbcf `bxt ta i`y ca`dgtga` tjit ioobcts yaur cjgmd- pirb`t- sghmg`l- iu`t!u`cmb arlri`dpirb`t. Oar bicj cjbcfbd hax- bxpmig` hbmaw wja gs ioobctbd.

Eb`tim rbtirditga`

Mbir`g`l dgsihgmgtgbs

Z Dbvbmapeb`tim dbmiy Kasbpj jis spbbcj dbmiyBirmy%a`sbt dbio`bss

Birmy%a`sbt hmg`d`bssHgrtj dbobcts

@buraeuscumir Gssubs

Sbgzurbs

Z Ihàreim eavbeb`ts Eaes u`cmb jis i trbear- itixgi- i`d eiyhbdbeb`tgiHmaad cmattg`l ar hmbbdg`ldgsardbr

Gòi`t dbitj

^rblì`cy massbs

R`bxpmig`bd dbitj

Eglrig`b

Z Ci`cbr îtbrìm lri`deatjbr jid hrbist ci`cbr


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Oiegmy Jgstary Cammbctga`

Dbea`stritga`


14/50

Oiegmy structurb

^rbsb`cb i`d bxtb`t ao dgsbisb

Ilbs ao a`sbt i`d dbitj

Cjra`gc gmm`bss

G`obrtgmgty- egscirrgilb

G`tbmmbctuim dgsihgmgty

Hgrtj dbobcts

Yubstga`s oar i tirlbtbd oiejx g`cmudb;


15/50

Ebdgcim i`d dbvbmapeb`t

g`oareitga` ihaut yaur

rbmitgvbs ci` lgvb us cmubsihaut wjit gs lag`l a` wgtj

Kasbpj. Bvb` i `areim oiegmy

jgstary ci` jbmp lugdb us.

\jb` cammbctg`l oiegmy jgstary-

gt gs geparti`t ta sbt bxpbctitga`s


16/50

Xbcard oiegmy jgstary sa tjit gt ci` hb

iccbssbd- upditbd- i`d g`tbrprbtbd

Kasbpj

3 y

GD- hbjivgarim

gssubs

8

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Eb`apiusb dx 39

~?>sTrbear-

1dbeb`tgi- itixgi

Bm Simvidargi`Grgsj!Lbrei`

OieJx; `blitgvb oar

GD!DD


17/50

Gdb`tgoy rbd omils


18/50

Xbd omils tjit imbrt yau ta lb`btgc rgsf

Eumtgpmb g`dgvgduims wgtj rbmitbd ca`dgtga`s


Birmy ilb it a`sbt

Mbss aotb` ioobctbd sbx Ihsb`cb ao f`aw` rgsf oictars

Sbvbrb ei`gobstitga`s

Btj`gc prbdgspasgtga`

Ca`si`lug`gty


19/50

\jit rbd omils dayau sbb g` Kasbpjs

oiegmy jgstary1

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Eb`apiusb dx 39

~?>sTrbear-

1dbeb`tgi-

itixgi

Bm Simvidargi` Grgsj!Lbrei`

Eavbeb`t

dgsardbr

G`obrtgmgty


20/50

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Eb`apiusb dx 39

~?>sTrbear-

1dbeb`tgi-

itixgi


Eavbeb`t

dgsardbr

G`obrtgmgty

Kasbpjs rbd omils


21/50

Hisbd a` cmg`gcim lugdbmg`bs oar

g`tbmmbctuim dgsihgmgty tbstg`l ca`sgdbr tjb

oammawg`l dgil`asbs

i' Gdgapitjgc g`tbmmbctuim dgsihgmgty

h' Cjraeasaeb ih`areimgty

c' Egcra%dupmgcitga`!dbmbtga` sy`draeb

d' Orilgmb Z sy`draeb


22/50

Jaw waumd yau oacus tbstg`l hisbd a`

oiegmy jgstary i`d cmg`gcim lugdbmg`bs1


Birmy ilb it a`sbt

Ihsb`cb ao fàw`

rgsf oictars

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Ebàpiusb dx 39

~?>sTrbear-

1dbeb`tgi- itixgi

Bm Simvidargi`Grgsj!Lbrei`

Eavbeb`t

dgsardbr

Gòbrtgmgty


23/50

Gdb`tgoy pittbr`s ta lugdb tbstg`l

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Eb`apiusb dx 39

~?>sTrbear-

1dbeb`tgi-

itixgi


Eavbeb`t

dgsardbr

G`obrtgmgty


24/50

Iutasaeim Xbcbssgvb

Caepmbx Dgsbisb

Z%Mg`fbd

Iutasaeim Daeg`i`t

Cirrgbr


25/50

Gdgapitjgc G`tbmmbctuim Dgsihgmgty


26/50

Cjraeasaeb Ih`areimgty

G`tbmmbctuim

dgsihgmgty

G`tbmmbctuim

dgsihgmgty

GD6 Ca`lb`gtimjbirt dbobct6

Sjart


27/50

Egcra%Dupmgcitga`!Dbmbtga` Sy`draeb

G`tbmmbctuim

dgsihgmgty

G`tbmmbctuim

dgsihgmgty

Mbir`g`l dgsihgmgty


28/50

Orilgmb Z Sy`draeb

G`tbmmbctuim

dgsihgmgty

G`tbmmbctuim

dgsihgmgty

G`obrtgmgty

Trbear- itixgi


29/50

Hisbd a` tjb rbd omils i`d pittbr`s

wjit gs tjb east mgfbmy dgilàsgs1

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Ebàpiusb dx 39

~?>sTrbear-

1dbeb`tgi-itixgi


Eavbeb`t

dgsardbr

Gòbrtgmgty


30/50

Orilgmb Z

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Eb`apiusb dx 39

~?>sTrbear-

1dbeb`tgi-itixgi


Eavbeb`t

dgsardbr

G`obrtgmgty


31/50

\jit ihaut atjbr rbd omils1

Kasbpj

3 y

GD- hbjivgarim

gssubs

8 Fby

G`tbmmbctuim

dgsihgmgty

D. 34 y

Hrbist ci

Jglj

cjambstbram

33 y

Eb`apiusb dx 39

~?>sTrbear-

1dbeb`tgi-itixgi


Eavbeb`t

dgsardbr

G`obrtgmgty


32/50

\jit dabs

tjgs ebi`1

\jit da wb

da `bxt1

\jy gs tjgsgeparti`t1

Caeeu`gcitb yaur og`dg`ls


33/50

\jit da wb caeeu`gcitb ihaut tjb

rgsf issbsseb`t1


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Caeeu`gcitga` ihaut

rgsf issbsseb`t

Bxpmig` yaur og`dg`ls Tgb talbtjbr tjb rbd omils i`d pittbr`s

\jit gs Orilgmb Z sy`draeb

\jy bvimuitg`l oar tjgs dgil`asgs gs geparti`t

Kasbpj

Oiegmy ebehbrs

@bxt stbps g` bvimuitga`


35/50

@bxt stbps

Ardbr Orilgmb Z lb`btgc tbstg`l

Xbobr ar ca`sumt wgtj lb`btgcs


36/50

Seimm Lraup ^rictgcb


37/50

Sambdids oiegmy jgstary

3 3

Irlb`tg`i Irlb`tg`i

d. ?> y

BTAJ

Mgvbr Ci`cbr

d.


38/50

\jit rbd omils dayau sbb g`

Sambdids oiegmy jgstary1

3 3

Irlb`tg`i Irlb`tg`i

d. ?> y

BTAJ

Mgvbr Ci`cbr

d.


39/50

Xbd Omils

3 3

Irlb`tg`i Irlb`tg`i

d. ?> y

BTAJ

Mgvbr Ci`cbr

d.


40/50

\jit g`jbrgti`cb pittbr` dayau sbb

g` Sambdids oiegmy jgstary1

3 3

Irlb`tg`i Irlb`tg`i

d. ?> y

BTAJ

Mgvbr Ci`cbr

d.


41/50

Iutasaeim rbcbssgvb

Mugs

33 yI!\

Eirgi

38 yI!\

Di`gbmi

< y

I!\

Cirmas

2y 9ea

Sbvbrb

Jbidicjb

Xblrbssga`

Sambdid

8y 3ea

^assghmb

S[


42/50

Imsa- iutasaeim daeg`i`t

d.


43/50

Jaw waumd yau caeeu`gcitb ihaut

oiegmy jgstary cammbctga` i`d

g`tbrprbtitga`1

\jit dabs

tjgs ebi`1

\jit da wbda `bxt1

\jy gs tjgs

geparti`t1


44/50

Caeeu`gcitb

\jy yau irb cammbctg`l tjb gòareitga` i`djaw gt ci` hb usbd

Tjit cammbctg`l oiegmy jgstary gòareitga` gs i`

a`lag`l pracbss

Gòareitgvb qubstga`s

\jit yaur og`dg`l ebi` oar tjb pitgb`t

Xgsfs ta oiegmy ebehbrs


45/50

Caeeu`gcitb g` i

pitgb`t cb`tbrbd wiy

Isf ihaut oiegmys pbrcbptga`s ao ca`dgtga` i`d rgsf

Hb sb`sgtgvb ta oiegmy rbictga`s i`d beatga`s

^ut rgsf g`ta pbrspbctgvb


46/50

@bxt stbps

Crbitb dgoobrb`tgim dgil`asgs Caeeu`gcitb g`tbrprbtitga` i`d suspbctbd

dgil`asgs

Lb`btgc tbstg`l

Xbobr ar ca`sumt wgtj lb`btgcs


47/50

Xgsf issbsseb`t oarcaepmbx dgsbisbs


48/50

Fby âg`ts g` Lbàegc Xgsf

Issbsseb`t

9. Cammbct jgstary tjit g`dgcitbs oiegmy structurb i`d

ei`gobstitga`s ao dgsbisb

8. Issbss pittbr`s i`d rbd omils3. Rsb rgsf ta idipt pmi` oar lb`btgc tbstg`l-

eiìlbeb`t- cau`sbmg`l btc.

4. Caeeu`gcitb wgtj oiegmgbs ihaut rgsf g` i pitgb`t

cb`tbrbd wiy


49/50

Jaebwarf!^rictgcb

^rictgcb gdb`tgoyg`l rbd omils / g`jbrgti`cb pittbr`s

*Cirdgaeyapitjy Cisb'

Jglj caeoart mbvbm; ^rictgcb rbcurrb`cb rgsf cau`sbmg`l

*Spg`im Euscumir Itrapjy / Ducjb``b Euscumir Dystrapjy'

Og`d tjb jaebwarf it jttp;!!www.`cjpbl.arl!`bura!


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Slideset: Genomic Risk Assessment for the Child Neurologist