11th International Congress of Human Genetics MEDIA KITigms Great Hall Chair Marc C Patterson,...
30
11th International Congress of Human Genetics MEDIA KIT Brisbane Convention & Exhibition Centre, Brisbane, Australia August 6 - 10 2006 © Econnect Communication, www.econnect.com.au
Transcript of 11th International Congress of Human Genetics MEDIA KITigms Great Hall Chair Marc C Patterson,...
11th International Congress of Human Genetics MEDIA KIT
Brisbane Convention & Exhibition Centre, Brisbane, Australia
August 6 - 10 2006
© Econnect Communication, www.econnect.com.au
CONTENTS Section
1. Program 2. Media Briefs 3. Media Releases 4. Media Conference Schedule 5. Media Conference Alerts 6. Venue Map Abstracts: Hard copies will be available in the media room (M5/M6) during the conference. PDF files are available on request to [email protected] Media Assistance: Please do not hesitate to ask for media assistance. Science communication volunteers and Econnect staff will be available to assist in attending and reporting on sessions, contacting talent, research and copy writing etc. The media room will be attended from 08:00 to 18:00 each day and is located in room M5/M6. Media Conferences: Daily media conferences will be held in room M7/M8 at the times indicated on the schedule. Speaker contact: Limited contact details are available for speakers. Every attempt will be made by media room assistants to make contact with speakers at the congress outside session times.
© Econnect Communication, www.econnect.com.au
2929
Sund
ay, A
ugus
t 6
14:3
0-16
:00
Genz
yme
Sate
llite
Sym
posi
um o
n Ly
soso
mal
Sto
rage
Dis
ease
s "R
ecen
t Adv
ance
men
ts a
nd E
mer
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Str
ateg
ies
for t
he T
reat
men
t of L
ysos
omal
Sto
rage
Dis
orde
rs"
M4
Chai
r Ji
m M
cGill
, Roy
al C
hild
ren'
s H
ospi
tal,
Bris
bane
, Aus
tral
iaTh
e go
al o
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mpo
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is to
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ew c
urre
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vest
igat
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are
to c
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elat
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stre
ngth
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s of
the
vari
ous
appr
oach
es a
nd d
iscu
ss im
plic
atio
ns fo
r fut
ure
trea
tmen
t str
ateg
ies.
14:3
0O
peni
ng C
omm
ents
Jim
McG
ill, R
oyal
Chi
ldre
n's
Hos
pita
l, Br
isba
ne, A
ustr
alia
14:4
0Re
cent
Adv
ance
men
ts in
the
Trea
tmen
t of P
ompe
Dis
ease
Deb
ora
h M
ars
den
, Dir
ecto
r, G
loba
l Med
ical
Pro
gram
s-G
enzy
me
Corp
., U
nite
d St
ates
15:15
Emer
ging
The
rape
utic
Str
ateg
ies
For t
he T
reat
men
t of L
ysos
omal
Sto
rage
Dis
ease
sTi
m E
dm
un
ds,
The
rape
utic
s Pr
otei
n R
esea
rch-
Gen
zym
e Co
rp.,
Uni
ted
Stat
es
15:5
0Cl
osin
g Co
mm
ents
/Que
stio
nsJi
m M
cGill
, Roy
al C
hild
ren'
s H
ospi
tal,
Bris
bane
, Aus
tral
ia
17:0
0-18
:00
Ope
ning
Cer
emon
yGr
eat H
all
18:0
0-19
:30
Wel
com
e Re
cept
ion
Ballr
oom
19:3
0-21
:00
Roch
e Di
agno
stic
s Sa
telli
te S
ympo
sium
M4
Acce
lera
te y
our M
edic
al R
esea
rch
Usi
ng th
e Ro
che/
454
Geno
me
20 S
yste
m -
010
5M
aith
reya
n S
rin
iva
san
, Dir
ecto
r, S
eque
ncin
g an
d Pr
otei
n Sc
ienc
es, U
nite
d St
ates
3030M
ond
ay, A
ugus
t 7
08:3
0-
10:0
0
Plen
ary
Sess
ion
- PL
01Gr
eat H
all
Chai
r Ly
n G
riffi
th
s, G
riffi
th
Uni
vers
ity,
Aus
tral
ia
08:3
0Ke
epin
g Ge
neti
cs H
uman
- 0
201
Joh
n B
urn
, Ins
titu
te o
f H
uman
Gen
etic
s, U
nite
d K
ingd
om
09:0
0Ge
neti
c Va
riab
ility
in S
usce
ptib
ility
to In
fect
ion
- 02
02D
avid
J W
eath
eral
l, W
eath
eral
l Ins
titu
te o
f M
olec
ular
Med
icin
e, U
nive
rsit
y of
Ox
ford
, Uni
ted
Kin
gdom
09:3
0Ad
dres
sing
the
Chal
leng
e of
Pub
lic H
ealt
h Ge
nom
ics
- 02
03W
ylie
Bu
rke,
Uni
vers
ity
of W
ashi
ngto
n, U
nite
d St
ates
10:0
0-
10:3
0
Mor
ning
Tea
Exhi
biti
on H
all 1
10:3
0-
12:3
0
Invi
ted
Sess
ion
- IS
01Ps
ycho
soci
al G
enet
ic C
ouns
ellin
gP3
/P4/
P5
Chai
r M
adel
yn P
eter
son
, Gri
ffi t
h U
nive
rsit
y/U
nive
rsit
y of
Que
ensl
and,
Aus
tral
ia
10:3
0-
12:3
0
Invi
ted
Sess
ion
- IS
02Ge
nes
and
Inte
llige
nce
M4
Co-C
hair
s Jo
zef
Géc
z, W
omen
's a
nd C
hild
ren'
s H
ospi
tal,
Aust
rali
aH
ans-
Hilg
er R
oper
s, M
ax-P
lanc
k-In
stit
ute
for
Mol
ecul
ar G
enet
ics,
Ger
man
y
10:3
0-
12:3
0
Invi
ted
Sess
ion
- IS
03Hu
man
Chr
omos
ome
Stru
ctur
e an
d Be
havi
our
M1/
M2
Co-C
hair
s A
nd
y Ch
oo, M
urdo
ch C
hild
ren'
s R
esea
rch
Inst
itut
e,
Aust
ralia
Hu
nti
ngt
on W
illar
d, D
uke
Uni
vers
ity,
Uni
ted
Stat
es
10:3
0-
12:3
0
Invi
ted
Sess
ion
- IS
04M
ethy
lati
on a
nd F
amili
al C
ance
rM
3
Co-C
hair
s M
ich
ael
Fen
ech
, CSI
RO
, Aus
tral
iaJo
hn
Bu
rn, I
nsti
tute
of
Hum
an G
enet
ics,
Uni
ted
Kin
gdom
10:3
0Ps
ycho
educ
atio
nal g
enet
ic c
ouns
elin
g: T
owar
d an
in
tegr
ated
mod
el -
020
4B
arba
ra B
Bie
seck
er, N
atio
nal H
uman
Gen
ome
Res
earc
h In
stit
ute,
Nat
iona
l Ins
titu
tes
of H
ealt
h,
Uni
ted
Stat
es
10:3
0Li
nkag
e an
d as
soci
atio
n fo
r cog
niti
on in
twin
fa
mili
es -
020
9N
ich
olas
G M
arti
n, Q
ueen
slan
d In
stit
ute
of
Med
ical
Res
earc
h, A
ustr
alia
10:3
0N
ext g
ener
atio
n hu
man
art
ifi ci
al c
hrom
osom
es fo
r th
e an
alys
is o
f hum
an c
entr
omer
e id
enti
ty a
nd
func
tion
- 0
213
Hu
nti
ngt
on W
illar
d, D
uke
Uni
vers
ity,
Uni
ted
Stat
es
10:3
0Ep
igen
etic
bre
akdo
wn
of c
ance
r cel
ls: F
rom
DN
A m
ethy
lati
on to
his
tone
s -
0217
Ma
nel
Est
elle
r, C
ance
r Ep
igen
etic
s La
bora
tory
, Sp
anis
h N
atio
nal C
ance
r Ce
ntre
(CN
IO),
Spa
in
10:5
4De
velo
ping
a b
road
-bas
ed m
odel
for g
enet
ic
coun
selin
g -
0205
Jon
D W
eil,
Uni
vers
ity
of C
alif
orni
a, S
an F
ranc
isco
, U
nite
d St
ates
11:00
Inte
llect
ual d
isab
ility
: gen
etic
dis
sect
ion
prom
ises
cl
ues
to b
rain
func
tion
- 0
210
Han
s-H
ilger
Rop
ers,
Max
-Pla
nck-
Inst
itut
e fo
r M
olec
ular
Gen
etic
s, B
erlin
, Ger
man
y
11:00
Dise
ase
and
CNV
s -
0214
Nig
el P
Car
ter,
Wel
lcom
e Tr
ust
Sang
er I
nsti
tute
, U
nite
d K
ingd
om
11:15
Gene
tics
of s
erra
ted
neop
lasi
a in
the
colo
rect
um
- 02
18Jo
an
ne
P Yo
un
g , Q
IMR
, Aus
tral
ia
11:18
Gett
ing
to th
e he
art o
f the
mat
ter:
Gen
etic
co
unse
lling
in th
e ca
rdia
c cl
inic
- 0
206
Ivan
Mac
cioc
ca, G
enet
ic H
ealt
h Se
rvic
es V
icto
ria,
Au
stra
lia
11:30
Rho
sign
alin
g an
d ne
rvou
s sy
stem
dis
orde
rs -
021
1Li
nd
a Va
n A
elst
, Col
d Sp
ring
Har
bor
Labo
rato
ry,
Uni
ted
Stat
es
11:30
Topo
grap
hy o
f chr
omos
ome
terr
itor
ies
- ev
iden
ce
for a
str
uctu
ral m
emor
y of
nuc
lear
arc
hite
ctur
e -
0215
Thom
as C
rem
er, L
MU
Bio
zent
rum
, Ger
man
y
11:30
The
impa
ct o
f mic
ronu
trie
nts
on c
olor
ecta
l m
ethy
lati
on a
nd c
ance
r ris
k -
0219
You
ng-
In J
Kim
, Uni
vers
ity
of T
oron
to, C
anad
a
11:42
Gene
tic
coun
selli
ng in
pri
vate
pra
ctic
e -
an
Aust
ralia
n pe
rspe
ctiv
e -
0207
Lyn
n M
Hu
lsto
n, S
ydne
y U
ltra
soun
d fo
r W
omen
, Au
stra
lia
12:0
0M
ASC
com
plex
es a
nd th
e ge
neti
cs o
f hum
an
cogn
itio
n -
0212
Seth
GN
Gra
nt,
Wel
lcom
e Tr
ust
Sang
er I
nsti
tute
, U
nite
d K
ingd
om
12:0
0St
ruct
ural
org
anis
atio
n of
the
mam
mal
ian
cent
rom
ere
- 02
16K
H A
nd
y Ch
oo, M
urdo
ch C
hild
rens
Res
earc
h In
stit
ute,
Aus
tral
ia
12:0
0Di
scus
sion
12:0
6Et
hica
l iss
ues
in c
ance
r gen
etic
cou
nsel
ing
- 02
08K
ath
erin
e A
Sch
nei
der
, Dan
a-Fa
rber
Can
cer
Inst
itut
e, U
nite
d St
ates
12:3
0-
13:3
0
Lunc
h
Spon
sore
d by
Gen
etic
Tec
hnol
ogie
sEx
hibi
tion
Hal
l 1
13:3
0-
15:0
0
Plen
ary
Sess
ion
- PL
03Gr
eat H
all
Chai
r Ve
ron
ica
Van
Hey
nin
gen
, Wes
tern
Gen
eral
Hos
pita
ls, U
nite
d K
ingd
om
13:3
0Dy
smor
phol
ogy
and
Deve
lopm
ent:
The
Pat
ient
has
the
Key
- 02
20D
ian
Don
nai
, Uni
vers
ity
of M
anch
este
r, D
epar
tmen
t of
Med
ical
Gen
etic
s, U
nite
d K
ingd
om
14:0
0U
trop
hin
in th
e Th
erap
y of
Duc
henn
e M
uscu
lar D
ystr
ophy
- 0
221
Kay
E D
avie
s, M
RC
Func
tion
al G
enet
ics
Uni
t, U
nive
rsit
y of
Ox
ford
, Uni
ted
Kin
gdom
14:3
0Ex
pres
sion
Gen
omic
s an
d p5
3 Bi
olog
y -
0222
Edis
on T
Liu
, Gen
ome
Inst
itut
e of
Sin
gapo
re, S
inga
pore
15:0
0-
15:3
0
Afte
rnoo
n Te
aEx
hibi
tion
Hal
l 1
3131
15:3
0-
17:3
0
Invi
ted
Wor
ksho
p -
WS0
1Hi
gh T
hrou
ghpu
t Str
ateg
ies
and
Tech
niqu
es fo
r Ge
nom
ics
Rese
arch
M3
Co-C
hair
s O
laf
Rei
ss, U
nive
rsit
y Tu
ebin
gen,
Ger
man
ySu
san
For
rest
, Aus
tral
ian
Gen
ome
Res
earc
h Fa
cilit
y, A
ustr
alia
15:3
0-
17:3
0
Invi
ted
Wor
ksho
p -
WS0
2Ge
neti
c Ed
ucat
ion:
Div
erse
Aud
ienc
es a
nd
Inte
rnat
iona
l Per
spec
tive
sP3
/P4/
P5
Co-C
hair
s Jo
sep
h D
McI
ner
ney
, Nat
iona
l Coa
litio
n fo
r H
ealt
h Pr
ofes
sion
al E
duca
tion
in G
enet
ics,
U
nite
d St
ates
Sylv
ia M
etca
lfe,
Mur
doch
Chi
ldre
ns R
esea
rch
Inst
itut
e, U
nive
rsit
y of
Mel
bour
ne, A
ustr
alia
15:3
0-
17:3
0
Invi
ted
Wor
ksho
p -
WS0
3Dy
smor
phol
ogy:
Sci
ence
to S
urve
illan
ceM
4
Co-C
hair
s Ju
lie M
cGau
ghra
n, R
oyal
Chi
ldre
n's
Hos
pita
l, Au
stra
liaPr
ofes
sor
Porn
swan
Wa
san
t, S
irir
aj H
ospi
tal,
Thai
land
15:3
0-
17:3
0
Invi
ted
Wor
ksho
p -
WS0
4Po
pula
tion
Bas
ed B
ioba
nks
M1/
M2
Co-C
hair
s A
nd
res
Met
spa
lu, U
nive
rsit
y of
Tar
tu, E
ston
iaLy
le J
Pa
lmer
, Uni
vers
ity
of W
este
rn A
ustr
alia
, Au
stra
lia
15:3
0In
trod
ucti
onO
laf
Rei
ss, U
nive
rsit
y Tu
ebin
gen,
Ger
man
y15
:30
Gene
tics
and
hea
lthc
are
prof
essi
onal
edu
cati
on:
driv
ers
for c
ompe
tenc
e an
d bl
ocks
to le
arni
ng
- 02
29Pe
ter
A F
arn
don
, NH
S N
atio
nal G
enet
ics
Educ
atio
n an
d D
evel
opm
ent
Cent
re, U
nite
d K
ingd
om
15:3
0Th
e dy
smor
phen
ome:
Hum
an m
alfo
rmat
ion
term
inol
ogy
- 02
33Le
slie
G B
iese
cker
, Uni
ted
Stat
es
15:3
0Pu
blic
pop
ulat
ion
proj
ect i
n ge
nom
ics
- 02
39Th
oma
s J
Hu
dso
n, M
cGill
Uni
vers
ity
and
Gen
ome
Que
bec
Inno
vati
on C
entr
e, C
anad
a15
:35
A ne
w m
icro
arra
y-ba
sed
diag
nost
ic to
ol fo
r re
sequ
enci
ng th
e en
tire
BRC
A1 a
nd B
RCA2
gen
es
- 02
24M
ich
ael B
onin
, Ins
titu
te f
or H
uman
Gen
etic
s,
Ger
man
y
15:4
7Th
e W
este
rn A
ustr
alia
n Ge
nom
e He
alth
Pro
ject
-
0240
Lyle
J P
alm
er, W
este
rn A
ustr
alia
n In
stit
ute
for
Med
ical
Res
earc
h, A
ustr
alia
15:5
0Fi
lam
inop
athi
es: t
he c
ytos
kele
ton
regu
late
s m
orph
ogen
esis
- 0
234
Step
hen
P R
ober
tson
, Dun
edin
Sch
ool o
f M
edic
ine,
Ota
go U
nive
rsit
y, N
ew Z
eala
nd
15:5
5Th
e us
e of
arr
ay-b
ased
com
para
tive
gen
omic
hy
brid
izat
ion
to id
enti
fy c
hrom
osom
e ab
norm
alit
ies
- 02
25Li
sa G
Sh
affe
r, S
igna
ture
Gen
omic
Lab
orat
orie
s an
d W
ashi
ngto
n St
ate
Uni
vers
ity,
Uni
ted
Stat
es
16:0
0Pr
elim
inar
y re
sult
s of
a w
ebsi
te o
n ge
neti
c co
nsul
tati
ons
and
a pr
ogra
m o
f onl
ine
educ
atio
n in
clin
ical
gen
etic
s in
Chi
le -
023
0Si
lvia
Cas
tillo
Tau
cher
, Gen
etic
Uni
t, H
ospi
tal
Clín
ico
Uni
vers
idad
de
Chile
, San
tiag
o, C
hile
16:0
4"B
ioBa
nk Ja
pan"
tow
ard
the
pers
onal
ized
m
edic
ine
- 02
41Yu
suke
Na
kam
ura
, Ins
titu
te o
f M
edic
al S
cien
ce,
The
Uni
vers
ity
of T
okyo
,The
SN
P R
esea
rch
Cent
er, R
IKEN
, Jap
an
16:10
Man
ifest
atio
ns o
f mos
aici
sm -
023
5D
ian
Don
nai
, Uni
vers
ity
of M
anch
este
r,
Dep
artm
ent
of M
edic
al G
enet
ics,
Uni
ted
Kin
gdom
16:15
The
adva
ntag
e of
pre
cisi
on in
hig
h th
roug
hput
ge
neti
c, e
xpre
ssio
n an
d ep
igen
etic
stu
dies
-
0226
Char
les
R C
anto
r, S
eque
nom
, Inc
., U
nite
d St
ates
16:2
1U
K Bi
oban
k -
how
big
is “
big”
? -
0242
Pau
l R B
urt
on, I
nsti
tute
of
Gen
etic
s, U
nive
rsit
y of
Lei
cest
er, U
nite
d K
ingd
om
16:3
0Pr
ofes
sion
al s
ocie
ties
and
gen
etic
s ed
ucat
ion
for
scho
ols
and
univ
ersi
ties
: The
exp
erie
nce
of th
e Am
eric
an s
ocie
ty o
f hum
an g
enet
ics
- 02
31Jo
sep
h D
McI
ner
ney
, Nat
iona
l Coa
litio
n fo
r H
ealt
h Pr
ofes
sion
al E
duca
tion
in G
enet
ics,
U
nite
d St
ates
16:3
0N
oona
n, C
ardi
ofac
iocu
tane
ous
and
Cost
ello
sy
ndro
mes
and
the
RAS-
MAP
K pa
thw
ay -
023
6Ju
dit
h E
Alla
nso
n, U
nive
rsit
y of
Ott
awa
and
Child
ren’
s H
ospi
tal o
f Ea
ster
n O
ntar
io, O
ttaw
a,
Cana
da
16:3
5Hi
gh-d
ensi
ty g
enot
ypin
g an
alys
is o
f com
plex
m
enta
l illn
ess
- 02
27Fr
ank
A M
idd
leto
n, U
psta
te M
edic
al
Uni
vers
ity,
Uni
ted
Stat
es
16:3
8A
Nat
iona
l DN
A Ba
nk in
The
Gam
bia,
Wes
t Afr
ica
- 02
43G
iorg
io S
iru
go, M
edic
al R
esea
rch
Coun
cil
Labo
rato
ries
, Gam
bia
16:5
0Hu
tchi
nson
-Gilf
ord
Prog
eria
Syn
drom
e: n
atur
al
hist
ory
and
man
agem
ent -
023
7R
aou
l CM
Hen
nek
am, I
nsti
tute
of
Child
Hea
lth,
G
reat
Orm
ond
Stre
et H
ospi
tal f
or C
hild
ren,
U
nite
d K
ingd
om16
:55
Bioi
nfor
mat
ic id
enti
fi cat
ion
and
expe
rim
enta
l va
lidat
ion
of fu
ncti
onal
non
codi
ng R
NAs
- 0
228
Joh
n S
Mat
tick
, Ins
titu
te f
or M
olec
ular
Bi
osci
ence
, Uni
vers
ity
of Q
ueen
slan
d, A
ustr
alia
16:5
5Th
e Es
toni
an G
enom
e Pr
ojec
t - 0
244
An
dre
s M
etsp
alu
, Tar
tu U
nive
rsit
y, E
ston
ian
BIoc
entr
e, E
GP
Foun
dati
on, E
ston
ia
17:0
0Sc
ient
ists
eng
agin
g w
ith
scho
ols:
the
Aust
ralia
n ex
peri
ence
- 0
232
Mar
yAn
ne
Ait
ken
, Gen
etic
s Ed
ucat
ion
and
Hea
lth
Res
earc
h, M
urdo
ch C
hild
rens
Res
earc
h In
stit
ute,
Aus
tral
ia
17:10
Synd
rom
es w
ith
Cran
iosy
nost
osis
: A
liter
atur
e re
view
- 0
238
Porn
swan
Was
ant,
Div
isio
n of
Med
ical
G
enet
ics,
Dep
artm
ent
of P
edia
tric
s, F
acul
ty o
f M
edic
ine
Siri
raj H
ospi
tal ,
Mah
idol
Uni
vers
ity,
Th
aila
nd
17:12
Disc
ussi
on
17:15
Disc
ussi
on
17:3
0-
19:0
0
Acte
lion
Sate
llite
Sym
posi
um:
Man
agem
ent o
f pat
ient
s w
ith
Lyso
som
al S
tora
ge D
isor
ders
(LS
Ds):
pro
gres
sing
bey
ond
curr
ent p
arad
igm
sGr
eat H
all
Chai
r M
arc
C Pa
tter
son
, Dep
artm
ents
of
Neu
rolo
gy a
nd P
edia
tric
s, C
olum
bia
Uni
vers
ity,
New
Yor
k, U
SA, U
nite
d St
ates
17:3
0In
trod
ucti
on o
n LS
DsM
arc
C Pa
tter
son
, Dep
artm
ents
of
Neu
rolo
gy a
nd P
edia
tric
s, C
olum
bia
Uni
vers
ity,
New
Yor
k, U
SA, U
nite
d St
ates
17:3
5Th
e co
ncep
t of t
hera
peut
ic m
aint
enan
ceG
rego
ry P
asto
res,
Uni
ted
Stat
es17
:50
Mig
lust
at fo
r the
long
term
trea
tmen
t of p
atie
nts
wit
h Ga
uche
r dis
ease
type
IA
ri Z
imra
n, S
haar
e Ze
dek
Med
ical
Cen
ter,
Isr
ael
18:10
Neu
rolo
gica
l man
ifest
atio
ns in
Gau
cher
dis
ease
type
IM
arc
C Pa
tter
son
, Dep
artm
ents
of
Neu
rolo
gy a
nd P
edia
tric
s, C
olum
bia
Uni
vers
ity,
New
Yor
k, U
SA, U
nite
d St
ates
18:2
5Bo
ne d
isea
se in
Gau
cher
dis
ease
type
IG
rego
ry P
asto
res,
Uni
ted
Stat
es18
:40
Conc
lusi
ve re
mar
ksM
arc
C Pa
tter
son
, Dep
artm
ents
of
Neu
rolo
gy a
nd P
edia
tric
s, C
olum
bia
Uni
vers
ity,
New
Yor
k, U
SA, U
nite
d St
ates
18:4
5Di
scus
sion
18:0
0-
19:3
0
Pres
iden
t’s
Rece
ptio
n (b
y in
vita
tion
onl
y)Ri
ver R
oom
3232Tu
esd
ay, A
ugus
t 8
08:3
0-
10:3
0
Invi
ted
Sess
ion
- IS
05Et
hica
l, Le
gal a
nd S
ocia
l Iss
ues
M3
Co-C
hair
s K
rist
ine
Bar
low
-Ste
war
t, T
he C
entr
e fo
r G
enet
ics
Educ
atio
n, A
ustr
alia
Ger
t M
atth
ijs,
Cen
ter
for
Hum
an G
enet
ics,
U
nive
rsit
y of
Leu
ven,
Bel
gium
08:3
0-
10:3
0
Invi
ted
Sess
ion
- IS
06Co
mpl
ex G
enet
ics
and
Neu
rode
gene
rati
ve D
isea
ses
M1/
M2
Co-C
hair
s M
ich
ael C
onn
eally
, Ind
iana
Uni
vers
ity
Scho
ol o
f M
edic
ine,
Uni
ted
Stat
esPe
ter
Sch
ofi e
ld, G
arva
n In
stit
ute
of M
edic
al
Res
earc
h, A
ustr
alia
08:3
0-
10:3
0
Invi
ted
Sess
ion
- IS
07Pe
oplin
g th
e Pl
anet
M4
Co-C
hair
s G
arth
Nic
hol
son
, Uni
vers
ity
of S
ydne
y, A
ustr
alia
Leen
a Pe
lton
en, D
epar
tmen
t of
Med
ical
Gen
etic
s,
Uni
vers
ity
of H
elsi
nki,
Finl
and
08:3
0-
10:3
0
Invi
ted
Sess
ion
- IS
08Pr
ogre
ss in
the
Trea
tmen
t of P
aedi
atri
c Im
mun
opat
hies
by
Gene
The
rapy
P3/P
4/P5
Co-C
hair
s Ia
n A
lex
an
der
, The
Chi
ldre
ns H
ospi
tal a
t W
estm
ead,
Au
stra
liaM
ari
na
Ca
vazz
an
a-C
alv
o, H
opit
al N
ecke
r-En
fant
s M
alad
es, F
ranc
e
08:3
0Th
e N
HMRC
Hum
an G
enet
ics
Advi
sory
Com
mit
tee
of
Aust
ralia
- 0
301
Kri
stin
e K
Bar
low
-Ste
war
t, T
he C
entr
e fo
r G
enet
ics
Educ
atio
n, N
SW G
enet
ics
Serv
ice,
Aus
tral
ia
08:3
0Co
mpl
ex g
enet
ics
of n
euro
dege
nera
tive
dis
orde
rs/
com
plex
gen
etic
s of
Par
kins
on D
isea
se -
030
8Je
ffer
y M
Van
ce, D
uke
Uni
vers
ity,
Uni
ted
Stat
es
08:3
0Hu
man
evo
luti
on a
nd m
igra
tion
: inf
eren
ces
from
au
toso
mal
, Y c
hrom
osom
e, a
nd m
itoc
hond
rial
dat
a -
0312
Lyn
n B
Jor
de,
Uni
vers
ity
of U
tah
Scho
ol o
f M
edic
ine,
Uni
ted
Stat
es
08:3
0Ge
ne th
erap
y fo
r sev
ere
com
bine
d im
mun
odefi
cie
ncy
X1 -
031
7M
ari
na
Ca
vazz
an
a-C
alv
o, H
opit
al N
ecke
r-En
fant
s M
alad
es, F
ranc
e
08:4
0Em
ergi
ng Is
sues
in th
e Pr
otec
tion
of H
uman
Gen
etic
In
form
atio
n: G
ene
Pate
ntin
g an
d Hu
man
Hea
lth
- 03
02D
avid
Wei
sbro
t, A
ustr
alia
n La
w R
efor
m
Com
mis
sion
, Aus
tral
ia
08:5
4Ar
chae
ogen
etic
s of
the
disp
ersa
l of m
oder
n hu
man
s: A
hap
loid
per
spec
tive
- 0
313
Ric
har
d V
illem
s, E
ston
ian
Bioc
entr
e an
d Ta
rtu
Uni
vers
ity,
Tar
tu, E
ston
ia
08:5
5Pa
tent
ing
and
Lice
nsin
g of
Gen
es a
nd G
enet
ic
Diag
nost
ic M
etho
ds -
030
3G
ert
Mat
thij
s, C
ente
r fo
r H
uman
Gen
etic
s,
Uni
vers
ity
of L
euve
n, B
elgi
um
09:0
0W
hole
gen
ome
asso
ciat
ion
scre
en in
mul
tipl
e sc
lero
sis
- 03
09St
eph
en J
Saw
cer,
Uni
vers
ity
of C
ambr
idge
D
epar
tmen
t of
Clin
ical
Neu
rosc
ienc
es, U
nite
d K
ingd
om
09:10
Stem
cel
l gen
e th
erap
y fo
r gen
etic
dis
ease
s -
0318
Cla
ud
io B
ord
ign
on, I
stit
uto
Scie
ntifi
co
San
Raf
fael
e an
d U
nive
rsit
à Vi
ta S
alut
e Sa
n R
affa
ele,
Ita
ly
09:15
From
sci
ence
to s
ocie
ty: e
mer
ging
issu
es in
the
prot
ecti
on o
f hum
an g
enet
ic in
form
atio
n -
0304
Joh
n E
Su
lsto
n, W
ellc
ome
Trus
t Sa
nger
Ins
titu
te,
Uni
ted
Kin
gdom
09:18
Stro
ng s
elec
tion
in m
ovin
g po
pula
tion
s m
irro
rs n
ew
chal
leng
es to
imm
une
syst
ems
- 03
14R
ebec
ca C
ann
, Uni
ted
Stat
es09
:30
Mol
ecul
ar G
enet
ic A
ppro
ache
s To
war
d U
nder
stan
ding
of m
ulti
ple
syst
em a
trop
hy (
MSA
) -
0310
Shoj
i Ts
uji
, Dep
artm
ent
of N
euro
logy
, The
U
nive
rsit
y of
Tok
yo G
radu
ate
Scho
ol o
f M
edic
ine,
Ja
pan
09:4
0Ge
neti
c di
scri
min
atio
n in
Aus
tral
ia: T
he c
onsu
mer
ex
peri
ence
- 0
305
San
dra
D T
aylo
r, C
entr
al Q
ueen
slan
d U
nive
rsit
y,
Aust
ralia
09:4
2Th
e Ge
neti
cs o
f Hum
an M
igra
tion
to R
emot
e O
cean
ia
- 03
15G
eoff
rey
K C
ham
bers
, Vic
tori
a U
nive
rsit
y of
W
ellin
gton
, New
Zea
land
09:5
0Co
rrec
tion
of C
hron
ic G
ranu
lom
atou
s Di
seas
e by
ge
ne th
erap
y: R
esul
ts fr
om a
Pha
se I
clin
ical
tria
l -
0319
Ma
nu
el G
rez,
Ins
titu
te f
or B
iom
edic
al R
esea
rch,
G
eorg
-Spe
yer-
Hau
s, F
rank
furt
, Ger
man
y10
:00
Gene
tic
disc
rim
inat
ion
in A
ustr
alia
: Thi
rd p
arty
pe
rspe
ctiv
es -
030
6M
arga
ret
Otl
owsk
i, Ce
ntre
for
Law
and
Gen
etic
s,
Facu
lty
of L
aw, U
nive
rsit
y of
Tas
man
ia, A
ustr
alia
10:0
0Ge
neti
cs o
f Alz
heim
er D
isea
se -
031
1M
arga
ret
A P
eric
ak-V
ance
, Cen
ter
for
Hum
an
Gen
etic
s, D
uke
Uni
vers
ity
Med
ical
Cen
ter,
Uni
ted
Stat
es
10:0
6Th
e Gy
psie
s: m
igra
tion
s of
yes
terd
ay a
nd to
day
- 03
16Lu
ba V
Kal
ayd
jiev
a, W
este
rn A
ustr
alia
n In
stit
ute
for
Med
ical
Res
earc
h, A
ustr
alia
10:2
0Di
scus
sion
10:3
0-
11:00
Mor
ning
Tea
Exhi
biti
on H
all 1
11:00 -
13:0
0
Free
Pap
er -
FP0
1Cy
toge
neti
cs: D
uplic
atio
n,
Tran
sloc
atio
n an
d Va
riat
ion
M4
Co-C
hair
s G
ran
t R
Su
ther
lan
d, W
omen
’s a
nd
Chil
dren
’s H
ospi
tal,
Aust
ralia
Dan
iel P
inke
l, U
nive
rsit
y of
Ca
lifo
rnia
San
Fra
ncis
co, U
nite
d St
ates
Free
Pap
er -
FP0
2Ge
ne Id
enti
fi cat
ion
and
Mol
ecul
ar
Mec
hani
sms
M3
Co-C
hair
s Ve
ron
ica
Van
Hey
nin
gen
, Wes
tern
G
ener
al H
ospi
tals
, Uni
ted
Kin
gdom
Han
s-H
enri
k M
Dah
l, M
urdo
ch
Child
rens
Res
earc
h In
stit
ute,
Au
stra
lia
Free
Pap
er -
FP0
3N
euro
psyc
hiat
ric
Com
plex
Tra
its
Grea
t Hal
l
Co-C
hair
s Je
nn
ifer
A D
onal
d, M
acqu
arie
U
nive
rsit
y, A
ustr
alia
Joh
n B
lan
gero
, Sou
thw
est
Foun
dati
on f
or B
iom
edic
al R
esea
rch,
U
nite
d St
ates
Free
Pap
er -
FP0
4Ch
alle
nges
in G
enet
ic H
ealt
hcar
eP3
/P4/
P5
Co-C
hair
s Pe
ter
A F
arn
don
, NH
S N
atio
nal
Gen
etic
s Ed
ucat
ion
and
Dev
elop
men
t Ce
ntre
, Uni
ted
Kin
gdom
Jon
D E
mer
y, G
ener
al P
ract
ice,
U
nive
rsit
y of
Wes
tern
Aus
tral
ia,
Aust
ralia
Free
Pap
er -
FP0
5Ph
arm
acog
enom
ics
and
Gene
Ex
pres
sion
M1/
M2
Co-C
hair
s K
aren
B A
vrah
am, T
el A
viv
Uni
vers
ity,
Isr
ael
Kim
M S
um
mer
s, T
he U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
Free
Pap
er -
GSA
01Co
nser
vati
on/P
opul
atio
n Ge
neti
cs I
P1/P
2
Chai
rB
eth
McG
raw
, Uni
vers
ity
of
Que
ensl
and,
Aus
tral
ia
11:00
Dise
ase-
rela
ted
gene
dup
licat
ions
: m
ore
com
mon
than
exp
ecte
d? -
032
0G
uy
Froy
en, H
uman
Gen
ome
Labo
rato
ry, F
land
ers
Inte
runi
vers
ity
inst
itut
e fo
r Bi
otec
hnol
ogy
(VIB
4),
Dep
t. H
uman
Gen
etic
s, U
nive
rsit
y of
Le
uve,
Bel
gium
Here
dita
ry s
past
ic p
arap
legi
a is
fr
eque
ntly
cau
sed
by m
utat
ions
in a
no
vel g
ene,
SPG
31 -
032
7St
eph
an Z
üch
ner
, Cen
ter
for
Hum
an G
enet
ics
and
Dep
artm
ent
of
Psyc
hiat
ry a
nd B
ehav
iora
l Sc
ienc
e,
Duk
e U
nive
rsit
y M
edic
al C
ente
r,
Uni
ted
Stat
es
Desi
gn o
f the
fi rs
t gen
erat
ion
of
Geno
me
Wid
e As
soci
atio
n St
udie
s -
0335
Jeff
rey
C B
arre
tt, W
TCH
G, O
xfo
rd
Uni
vers
ity,
Uni
ted
Kin
gdom
Fam
ily in
volv
emen
t in
Frag
ile X
: Te
stin
g, a
nd c
ouns
elin
g gu
idel
ines
-
0343
Ran
di
J H
ager
man
, Uni
vers
ity
of
Calif
orni
a at
Dav
is, U
nite
d St
ates
Phar
mac
ogen
etic
inve
stig
atio
n of
dr
ug-a
ssoc
iate
d ad
vers
e ev
ents
: Hy
pers
ensi
tivi
ty to
aba
cavi
r - 0
350
Arl
ene
R H
ugh
es, G
lax
oSm
ithK
line,
U
nite
d St
ates
11:00
Intr
aspe
cifi c
gen
etic
var
iati
on
and
phyl
ogeo
grap
hy o
f the
W
este
rn G
rey
Kang
aroo
, Mac
ropu
s fu
ligin
osus
- 0
358
Lin
da
E N
eave
s, D
epar
tmen
t of
Bi
olog
ical
Sci
ence
s M
acqu
arie
U
nive
rsit
y, A
ustr
alia
3333
11:15
High
thro
ughp
ut d
etec
tion
of r
elev
ant
copy
num
ber v
aria
tion
in th
e hu
man
ge
nom
e fo
r ass
ocia
tion
stu
dies
- 0
321
Ben
jam
in R
odrí
guez
-San
tiag
o,
Uni
tat
de G
enèt
ica,
Uni
vers
itat
Po
mpe
u Fa
bra,
Spa
in
Auto
som
al d
omin
ant p
sori
asifo
rm
sebo
rrhe
a-lik
e de
rmat
itis
cau
sed
by a
m
utat
ion
in P
SORA
EL, a
nov
el p
utat
ive
tran
scri
ptio
n fa
ctor
- 0
328
Oh
ad S
Bir
k, B
en-G
urio
n U
nive
rsit
y an
d So
roka
Med
ical
Cen
ter,
Isr
ael
“Flip
-fl o
p” a
ssoc
iati
ons:
can
opp
osit
e al
lele
s at
the
sam
e lo
cus
be a
ssoc
iate
d w
ith
the
sam
e di
seas
e? -
033
6Pi
ng-
I Li
n, C
ente
r fo
r H
uman
G
enet
ics,
Duk
e U
nive
rsit
y, U
nite
d St
ates
Tow
ards
mea
suri
ng o
utco
mes
in
clin
ical
gen
etic
s se
rvic
es -
a
qual
itat
ive
stud
y id
enti
fyin
g ou
tcom
e m
easu
res
- 03
44M
ario
n F
McA
llist
er, N
owge
n &
Nor
th W
est
Reg
iona
l Gen
etic
s Se
rvic
e &
Acad
emic
Uni
t of
Med
ical
Gen
etic
s,
Uni
vers
ity
of M
anch
este
r, U
K
A ro
le fo
r im
port
in 13
, a s
tero
id
rece
ptor
nuc
lear
impo
rt c
arri
er, i
n st
eroi
d re
spon
se in
ast
hma
- 03
51Fe
ige
Kap
lan
, McG
ill U
nive
rsit
y-
Mon
trea
l Chi
ldre
n’s
Hos
pita
l R
esea
rch
Inst
itut
e, C
anad
a
11:20
Pseu
doge
ne o
f MC1
R in
Indi
an
ring
neck
par
rots
? -
0359
Jen
nif
er S
edd
on, S
choo
l of
Vete
rina
ry S
cien
ce, U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
11:30
Revi
ew o
f Chr
omos
ome
aber
ratio
n br
eakp
oint
s in
the
cont
ext o
f ECA
RUCA
(E
urop
ean
Cyto
gene
ticis
ts A
ssoc
iatio
n Re
gist
er o
f Unb
alan
ced
Chro
mos
ome
Aber
ratio
ns)
Proj
ect -
032
2M
arilu
ce R
iege
l, In
stit
ute
of M
edic
al
Gen
etic
s, U
nive
rsit
y of
Zur
ich,
Sw
itze
rlan
d
Auto
som
al re
cess
ive
infa
ntile
bila
tera
l st
riat
al n
ecro
sis
is c
ause
d by
a
mut
atio
n in
the
nup6
2 ge
ne -
032
9Li
na
Bas
el-V
anag
aite
, Sch
neid
er
Child
ren'
s M
edic
al C
ente
r of
Isr
ael
and
Rab
in M
edic
al C
ente
r, I
srae
l
IDE
Vari
ants
Ass
ocia
ted
wit
h El
evat
ed
mRN
A Re
duce
Ris
k fo
r Lat
e-O
nset
Al
zhei
mer
's D
isea
se -
033
7St
even
G Y
oun
kin
, May
o Cl
inic
Co
lleg
e of
Med
icin
e, U
nite
d St
ates
The
GRAI
DS T
rial
: a c
lust
er-
rand
omis
ed c
ontr
olle
d tr
ial
of c
ompu
ter s
uppo
rt fo
r the
m
anag
emen
t of f
amili
al c
ance
r in
prim
ary
care
- 0
345
Jon
D E
mer
y, G
ener
al P
ract
ice,
U
nive
rsit
y of
Wes
tern
Aus
tral
ia,
Aust
ralia
Phar
mac
ogen
etic
s of
nic
otin
e re
plac
emen
t the
rapy
in N
ew Z
eala
nd
- 03
52R
od A
Lea
, Ins
titu
te o
f En
viro
nmen
tal S
cien
ce a
nd R
esea
rch,
N
ew Z
eala
nd
11:40
Gene
tic
Stoc
k St
ruct
ure
and
Infe
rred
Mig
rato
ry P
atte
rns
of
Skip
jack
Tun
a (K
atsu
won
us
Pela
mis
) an
d Ye
llow
Fin
Tun
a (T
hunn
us A
lbac
ares
) St
ocks
in S
ri
Lank
an W
ater
s -
0360
Sud
ath
Ter
ren
ce D
am
ma
nn
ago
da,
Q
ueen
slan
d U
nive
rsit
y of
Te
chno
logy
, Aus
tral
ia11:
45To
war
ds a
gen
otyp
e-ph
enot
ype
corr
elat
ion
of s
mal
l sup
ernu
mer
ary
mar
ker c
hrom
osom
es (
sSM
C) -
032
3Th
omas
Lie
hr,
Ins
titu
te o
f H
uman
G
enet
ics
and
Anth
ropo
logy
, Fri
edri
ch
Schi
ller
Uni
vers
ity
Jena
, Ger
man
y
Mut
atio
ns in
NDU
FAF1
, enc
odin
g a
com
plex
I as
sem
bly
fact
or, a
re a
no
vel c
ause
of m
itoc
hond
rial
dis
ease
-
0330
Can
ny
Sugi
ana,
Mur
doch
Chi
ldre
ns
Res
earc
h In
stit
ute,
Roy
al C
hild
ren’
s H
ospi
tal,
Mel
bour
ne, A
ustr
alia
Asso
ciat
ion
of P
INK1
and
DJ-
1 Con
fers
Di
geni
c In
heri
tanc
e of
Ear
ly O
nset
Pa
rkin
son'
s Di
seas
e -
0338
Zhu
ohu
a Z
han
g, B
urnh
am I
nsti
tute
fo
r M
edic
al R
esea
rch,
Uni
ted
Stat
es
Ethi
cal c
halle
nges
to d
irec
t to
cons
umer
gen
e te
stin
g -
0346
Caro
l Isa
acso
n B
aras
h, G
enet
ics,
Et
hics
& P
olic
y Co
nsul
ting
, Uni
ted
Stat
es
Alte
red
Mon
oam
ine
Oxi
dase
Gen
e Ex
pres
sion
in R
espo
nse
to A
lcoh
ol
Expo
sure
- 0
570
Mic
hae
l Gre
en, I
nsti
tute
of
Envi
ronm
ent
Scie
nces
and
Res
earc
h,
New
Zea
land
12:0
0Ge
neti
c va
riat
ion
affe
cts
de n
ovo
tran
sloc
atio
n fr
eque
ncie
s -
0324
Take
ma
Kat
o, D
iv. M
ol. G
enet
., IC
MS,
Fu
jita
Hea
lth
Uni
v., J
apan
Defi c
ienc
ies
in d
iffer
ent s
ubun
its
of
the
Cons
erve
d O
ligom
eric
Gol
gi (
COG)
co
mpl
ex d
efi n
e a
nove
l gro
up o
f Co
ngen
ital
Dis
orde
r of G
lyco
syla
tion
-
0331
Ger
t M
atth
ijs,
Cen
ter
for
Hum
an
Gen
etic
s, U
nive
rsit
y of
Leu
ven,
Be
lgiu
m
Posi
tion
al c
loni
ng, a
ssoc
iati
on
anal
ysis
and
exp
ress
ion
stud
ies
prov
ide
conv
erge
nt e
vide
nce
that
the
cadh
erin
gen
e FA
T co
ntai
ns a
bip
olar
di
sord
er s
usce
ptib
ility
alle
le -
033
9Pe
ter
R S
chofi
eld
, Gar
van
Inst
itut
e of
Med
ical
Res
each
, Uni
vers
ity
of
New
Sou
th W
ales
, Neu
rosc
ienc
e In
stit
ute
of S
chiz
ophr
enia
and
All
ied
Dis
orde
r, A
ustr
alia
The
ethi
cal c
halle
nges
of g
enet
ic
rese
arch
in N
ewfo
undl
and
and
Labr
ador
- 0
347
Kat
hy
A H
odgk
inso
n, M
emor
ial
Uni
vers
ity,
St.
Joh
n’s,
New
foun
dlan
d an
d La
brad
or, C
anad
a
Mic
roRN
As in
volv
ed in
the
deve
lopm
ent a
nd fu
ncti
on o
f Co
chle
ar C
ells
: Cor
rela
tion
to d
eafn
ess
- 03
54K
aren
B A
vrah
am, S
ackl
er S
choo
l of
Med
icin
e, T
el A
viv
Uni
vers
ity,
Isr
ael
12:0
0M
icro
sate
llite
Dna
Evo
luti
on: A
Cr
oss-
Chro
mos
omal
Com
pari
son
In
The
Tam
mar
Wal
laby
- 0
361
An
na
Ma
cDon
ald
, Uni
vers
ity
of
Canb
erra
, Aus
tral
ia
12:15
Vari
ant t
rans
loca
tion
in C
ML
- Is
it re
ally
the
sam
e as
the
typi
cal
tran
sloc
atio
n? -
032
5M
in F
ang,
Uni
vers
ity
of C
onne
ctic
ut
Hea
lth
Cent
er, U
nite
d St
ates
Asso
ciat
ion
of C
athe
psin
B G
ene
Poly
mor
phis
ms
wit
h Tr
opic
al C
alci
fi c
Panc
reat
itis
: A N
ew C
andi
date
Gen
e -
0332
Swap
na
Mah
urk
ar, C
entr
e fo
r Ce
llul
ar a
nd M
olec
ular
Bio
logy
, Ind
ia
NRG
1 and
the
Risk
of S
chiz
ophr
enia
: Do
es it
Dep
end
on S
tati
stic
al E
pist
asis
be
twee
n N
RG1 P
rote
in-I
nter
acti
on
Part
ners
ERB
b4, C
HRN
A7, A
KT1,
DLG4
, CA
PON
and
NO
S1?
- 03
40K
rist
in K
Nic
odem
us,
Gen
es
Cogn
itio
n an
d Ps
ycho
sis
Prog
ram
, CB
DB
, NIM
H, N
IH, B
ethe
sda
MD
, D
epar
tmen
t of
Epi
dem
iolo
gy, J
ohns
H
opki
ns S
PH, U
nite
d St
ates
Med
ical
Pat
erna
lism
in C
linic
al
Gene
tics
- 0
348
Mad
elyn
Pet
erso
n, G
riffi
th
Uni
vers
ity
/ U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
Gene
-com
bini
ng re
ad-t
hrou
gh
tran
scri
ptio
n in
the
hum
an g
enom
e:
new
gen
es o
r alt
erna
tive
tran
scri
pts?
-
0355
Tod
d D
Tay
lor,
RIK
EN G
enom
ic
Scie
nces
Cen
ter,
Jap
an
12:2
0Po
pula
tion
Gen
etic
s O
f An
Inva
sive
Sp
ecie
s, T
he C
omm
on C
arp
(Cyp
rinu
s Ca
rpio
), In
The
Mur
ray-
Darl
ing
Rive
r Sys
tem
- 0
362
Gw
ilym
D H
ayn
es, U
nive
rsit
y of
Sy
dney
, Aus
tral
ia
12:3
0EW
S-CR
EB1:
A re
curr
ent v
aria
nt fu
sion
in
cle
ar c
ell s
arco
ma
asso
ciat
ed w
ith
gast
roin
test
inal
loca
tion
and
abs
ence
of
mel
anoc
ytic
diff
eren
tiat
ion
- 03
26Pa
ola
Dal
Cin
, Bri
gham
and
Wom
en’s
H
ospi
tal,
Uni
ted
Stat
es
Prot
ein
Tran
slat
ion
and
Hum
an
Gene
tic
Dise
ase:
Stu
dyin
g th
e Ro
le o
f tR
NA-
Char
ging
Enz
ymes
in N
euro
nal
Heal
th -
033
3A
nth
ony
An
ton
ellis
, Nat
iona
l H
uman
G
enom
e R
esea
rch
Inst
itut
e, N
atio
nal
Inst
itut
es o
f H
ealt
h, U
nite
d St
ates
Hapl
otyp
es in
a 7
50 k
b fr
agm
ent
enco
ding
SPE
C2, P
DZ-G
EF2
and
ACSL
6 ge
nes
are
asso
ciat
ed w
ith
schi
zoph
reni
a -
0341
Xian
gnin
g Ch
en, V
irgi
nia
Com
mon
wea
lth
Uni
vers
ity,
Uni
ted
Stat
es
Gene
tic
/Act
uari
al A
naly
sis
of
Aust
ralia
n Li
fe In
sura
nce
- 03
49Jo
hn
A R
aebu
rn, C
olle
ge o
f M
edic
ine
and
Hea
lth
Scie
nces
, Sul
tan
Qab
oos
Uni
vers
ity,
Om
an
Esti
mat
ion
of h
erit
abili
ty fr
om a
ctua
l ge
neti
c re
lati
onsh
ips
of 5
000
sibl
ing
pair
s -
0356
Pete
r M
Vis
sch
er, Q
ueen
slan
d In
stit
ute
of M
edic
al R
esea
rch,
Au
stra
lia
12:4
5U
sing
Hig
h Re
solu
tion
Gen
omic
M
icro
arra
ys to
Stu
dy C
hrom
osom
al
Aber
rati
ons
and
DNA
Met
hyla
tion
Pa
tter
ns in
Aut
ism
- 0
569
Sim
on G
Gre
gory
, Duk
e U
nive
rsit
y Ce
nter
for
Hum
an G
enet
ics,
USA
Tran
slat
ion
rein
itia
tion
at t
he A
TP7A
lo
cus
asso
ciat
ed w
ith
favo
rabl
e ea
rly
trea
tmen
t out
com
es in
cla
ssic
al
Men
kes
dise
ase
- 03
34St
eph
en G
Kal
er, N
ICH
D, N
IH, U
nite
d St
ates
Sem
apho
rin
rece
ptor
gen
e, P
LXN
A2:
a co
mm
on c
ausa
l var
iant
for a
sp
ectr
um o
f psy
chia
tric
dis
orde
rs?
- 03
42N
aom
i R
Wra
y, Q
ueen
slan
d In
stit
ute
of M
edic
al R
esea
rch,
Aus
tral
ia
A Gl
obal
Dia
gnos
tic
Net
wor
k fo
r Ge
neti
csPa
tric
k W
illem
s, G
END
IA, B
elgi
um
Bias
in c
lass
ifi ca
tion
bas
ed o
n ge
ne
expr
essi
on d
ata
- 03
57Ia
n A
Woo
d, Q
ueen
slan
d U
nive
rsit
y of
Tec
hnol
ogy,
Aus
tral
ia
13:0
0-
14:0
0
Lunc
hEx
hibi
tion
Hal
l 1
Cont
inue
d o
ver
pag
e
3434Tu
esd
ay, A
ugus
t 8
Cont
inue
d14
:00
-15
:30
Plen
ary
Sess
ion
- PL
04Gr
eat H
all
Chai
r D
ian
a B
ian
chi,
Tuft
s -
New
Eng
land
Med
ical
Cen
ter,
Uni
ted
Stat
es
14:0
0Fr
ozen
Aliv
e: G
ene
Secr
ets
of F
reez
e To
lera
nt A
nim
als
Show
New
Dir
ecti
ons
for C
ryom
edic
ine
- 03
63K
enn
eth
B S
tore
y, C
arle
ton
Uni
vers
ity,
Can
ada
14:3
0Te
lom
eres
and
Tel
omer
ase:
A M
eans
to a
n En
d -
0364
Eliz
abet
h H
Bla
ckbu
rn, U
nive
rsit
y of
Cal
ifor
nia,
Uni
ted
Stat
es
15:0
0M
ulti
fact
oria
l Inh
erit
ance
thro
ugh
the
Eyes
of T
wo
Phen
otyp
es:
Hirs
chsp
rung
Aga
nglio
nosi
s an
d Su
dden
Car
diac
Dea
th -
036
5A
ravi
nd
a Ch
akra
vart
i, M
cKus
ick
- N
atha
ns I
nsti
tute
of
Gen
etic
Med
icin
e, U
nite
d St
ates
15:3
0-
16:3
0
Post
er S
essi
on 1a
(re
fer t
o Pa
ge 4
3)Ex
hibi
tion
Hal
l 2
16:3
0-
17:3
0
Post
er S
essi
on 1b
(re
fer t
o Pa
ge 4
3)Ex
hibi
tion
Hal
l 2
17:0
0-
18:3
0
Appl
ied
Bios
yste
ms
Sate
llite
Sym
posi
um: F
rom
the
Hum
an G
enom
e To
war
ds P
erso
nalis
ed M
edic
ine
Grea
t Hal
l
For 2
5 ye
ars
Appl
ied
Bios
yste
ms
has
been
pro
vidi
ng to
ols
and
tech
nolo
gies
to e
nabl
e re
sear
ch a
nd d
isco
very
in th
e fi e
lds
of h
uman
dis
ease
rese
arch
and
med
icin
e. W
ith
the
com
plet
ion
of th
e se
quen
cing
of h
uman
gen
ome
the
era
of
pers
onal
ised
med
icin
e is
app
roac
hing
. App
lied
Bios
yste
ms
cont
inue
s to
pro
vide
tech
nolo
gies
and
hig
h va
lue
geno
mic
info
rmat
ion
that
faci
litat
es th
e co
ntin
uing
evo
luti
on o
f our
und
erst
andi
ng o
f the
hum
an c
ondi
tion
.Th
is s
ympo
sium
will
illu
stra
te h
ow th
ese
tool
s ha
ve b
een
used
and
will
con
tinu
e to
be
used
for t
he d
isco
very
of n
ovel
mar
kers
, whi
ch w
ill le
ad to
bet
ter a
nd m
ore
spec
ifi c
unde
rsta
ndin
g of
dis
ease
s an
d di
agno
stic
test
s in
the
mol
ecul
ar e
ra.
17:0
05
Year
s on
Fro
m th
e Co
mpl
etio
n of
Seq
uenc
ing
the
Hum
an G
enom
e -
0366
Fran
cisc
o M
De
La V
ega,
App
lied
Bios
yste
ms,
Uni
ted
Stat
es
17:3
0Id
enti
fyin
g M
olec
ular
Mec
hani
sms
to R
evea
l Und
erly
ing
Path
obio
logy
in T
hyro
id N
eopl
asia
- 0
367
Orl
a Sh
eils
, St
Jam
es’ H
ospi
tal,
Irel
and
18:0
0Fr
om D
isco
very
to C
omm
erci
alis
atio
n of
Fra
gile
X S
yndr
ome
(FXS
) PC
R As
say
- 03
68St
uar
t G
eige
r, A
bbot
t M
olec
ular
, Uni
ted
Stat
es
18:0
0-
22:0
0
Aust
ralia
n O
utba
ck S
pect
acul
ar (
Opt
iona
l)
3535
3636W
edne
sday
, Aug
ust
908
:30
-10
:00
Plen
ary
Sess
ion-
PL0
5Gr
eat H
all
Chai
r H
an B
run
ner
, Uni
vers
ity
Hos
pita
l, Th
e N
ethe
rlan
ds
08:3
0Le
arni
ng fr
om th
e Pa
st o
f Hum
an G
enet
ics
- 04
01Pe
ter
S H
arp
er, C
ardi
ff U
nive
rsit
y, U
nite
d K
ingd
om
09:0
0Th
e Ro
le o
f DN
A in
For
ensi
cs a
nd M
ass
Trag
edie
s -
0402
Mic
hae
l Con
nea
lly, I
ndia
na U
nive
rsit
y Sc
hool
of
Med
icin
e, U
nite
d St
ates
09:3
0Ad
vanc
es in
Sta
tist
ical
Hum
an G
enet
ics
Ove
r the
Las
t 25
Year
s -
0403
Rob
ert
C El
ston
, Cas
e W
este
rn R
eser
ve U
nive
rsit
y, U
nite
d St
ates
10:0
0-
10:3
0
Mor
ning
Tea
Exhi
biti
on H
all 1
10:3
0-
12:3
0
Free
Pap
er -
GSA
03Ge
nom
ics
and
Geno
me
Evol
utio
n I
P1/P
2
Chai
r N
eil G
emm
ell,
Uni
vers
ity
of C
ante
rbur
y,
New
Zea
land
Invi
ted
Sess
ion
- IS
09St
ate
of th
e Ar
t Adv
ance
s in
Rep
rodu
ctiv
e Ge
neti
csP3
/P4/
P5
Co-C
hair
s Fu
ng-
Yee
Chan
, Mat
er H
ospi
tal,
Aust
ralia
Maj
A H
ult
en, U
nive
rsit
y of
War
wic
k,
Uni
ted
Kin
gdom
Invi
ted
Sess
ion
- IS
10M
olec
ular
Mec
hani
sms
of A
gein
gM
3
Co-C
hair
s D
avid
Sch
less
inge
r, N
atio
nal I
nsti
tute
s of
H
ealt
h, U
nite
d St
ates
Dav
id T
hor
burn
, Mur
doch
Chi
ldre
n’s
Res
earc
h In
stit
ute,
Mel
bour
ne, A
ustr
alia
Invi
ted
Sess
ion
- IS
11Ge
nom
e Pl
asti
city
: Pa
st, P
rese
nt a
nd F
utur
eM
4
Co-C
hair
s G
ertj
an v
an O
mm
en, L
eide
n U
nive
rsit
y M
edic
al C
ente
r, T
he N
ethe
rlan
dsA
llen
Ros
es, G
lax
oSm
ithK
line,
Uni
ted
Stat
es
Invi
ted
Sess
ion
- IS
12Co
mpl
ex D
isea
se G
ene
Map
ping
M1/
M2
Co-C
hair
s A
ravi
nd
a C
ha
kra
vart
i, M
cKus
ick
- N
atha
ns I
nsti
tute
of
Gen
etic
Med
icin
e,
Uni
ted
Stat
esN
ich
ola
s G
Ma
rtin
, Que
ensl
and
Inst
itut
e of
Med
ical
Res
earc
h, A
ustr
alia
10:3
0M
etab
olic
pro
visi
onin
g of
Dro
soph
ila b
y W
olba
chia
: how
a c
lass
ic re
prod
ucti
ve
para
site
mig
ht a
lso
act a
s a
mut
ualis
t -
0404
Jere
my
Bro
wn
lie, U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
10:3
0Pr
enat
al D
iagn
osis
, arr
ay C
GH a
nd N
orm
al
Geno
mic
Imba
lanc
es in
the
Hum
an G
enom
e -
0409
Char
les
Lee,
Har
vard
Med
ical
Sch
ool,
Uni
ted
Stat
es
The
biol
ogic
al re
ason
s fo
r age
ing:
a m
ajor
di
scov
ery
of th
e la
te 2
0th
cent
ury
- 04
13R
obin
Hol
liday
, Aus
tral
ian
Acad
emy
of
Scie
nce,
Aus
tral
ia
High
reso
luti
on c
hara
cter
izat
ion
of
recu
rren
t cop
y nu
mbe
r var
iati
on -
041
6St
efan
Wh
ite,
Lei
den
Uni
vers
ity
Med
ical
Ce
nter
, The
Net
herl
ands
10:3
0Th
e lo
caliz
atio
n an
d id
enti
fi cat
ion
of
hum
an q
uant
itat
ive
trai
t loc
i - 0
420
Joh
n B
lan
gero
, Sou
thw
est
Foun
dati
on f
or
Biom
edic
al R
esea
rch,
Uni
ted
Stat
es
10:5
5Ev
iden
ce fo
r non
-neu
tral
evo
luti
on in
W
olba
chia
gen
omes
- 0
405
Eliz
abet
h M
cGra
w, U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
10:5
5M
etho
d fo
r and
less
ons
from
map
ping
QTL
in
live
stoc
k -
0421
Mic
ha
el E
God
da
rd, U
nive
rsit
y of
M
elbo
urne
, Aus
tral
ia
11:00
Cell-
free
nuc
leic
aci
ds in
the
body
fl ui
ds o
f pr
egna
nt w
omen
- 0
410
Dia
na
W B
ian
chi,
Tuft
s U
nive
rsit
y Sc
hool
of
Med
icin
e, U
nite
d St
ates
IGF
sign
alin
g an
d ag
ing
- 04
14M
arti
n H
olze
nbe
rger
, Ins
erm
U51
5, H
ôpit
al
Sain
t-An
toin
e, F
ranc
e
The
hum
an g
enom
e st
ruct
ural
var
iati
on
proj
ect -
041
7Ev
an E
Eic
hle
r, G
enom
e Sc
ienc
es a
nd
How
ard
Hug
hes
Med
ical
Ins
titu
te,
Uni
vers
ity
of W
ashi
ngto
n, U
nite
d St
ates
11:20
Devi
l Chr
omos
omes
: Bas
is F
or C
ytog
enet
ic
Anal
ysis
Of T
umou
rs -
040
6Ca
rly
Smit
h, A
ustr
alia
n N
atio
nal
Uni
vers
ity,
Aus
tral
ia
11:20
Sear
chin
g pr
edis
posi
ng v
aria
nts
for M
S an
d m
igra
ine
by c
ombi
ning
dat
a fr
om
hum
an a
nd e
xper
imen
tal s
peci
es -
042
2A
arn
o Pa
loti
e, U
niv
of H
elsi
nki a
nd B
road
In
stit
ute,
Fin
land
11:30
Rece
nt d
evel
opm
ents
in n
onin
vasi
ve
pren
atal
dia
gnos
is u
sing
cel
l-fr
ee fe
tal
nucl
eic
acid
s in
mat
erna
l pla
sma
- 04
11YM
Den
nis
Lo,
The
Chi
nese
Uni
vers
ity
of
Hon
g K
ong,
Hon
g K
ong
Agin
g of
ooc
yte,
ova
ry, a
nd h
uman
re
prod
ucti
on -
041
5Ch
ris
F O
ttol
engh
i, N
atio
nal I
nsti
tute
on
Agi
ng, N
atio
nal I
nsti
tute
s of
Hea
lth,
U
nite
d St
ates
Gene
tics
of n
atur
al v
aria
tion
in h
uman
gen
e ex
pres
sion
- 0
418
Vivi
an G
Ch
eun
g, U
nive
rsit
y of
Pe
nnsy
lvan
ia, U
nite
d St
ates
11:40
Stru
ctur
e an
d fu
ncti
on o
f mam
mal
ian
fi bri
llin
gene
s -
0407
Kim
M S
um
mer
s, T
he U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
11:40
Trai
t ass
ocia
tion
map
ping
in th
e ge
nom
ic
era
- 04
23Jo
na
tha
n L
Ha
ines
, Van
derb
ilt U
nive
rsit
y M
edic
al C
ente
r, U
nite
d St
ates
12:0
0Pr
eim
plan
tati
on G
enet
ic D
iagn
osis
: the
ul
tim
ate
trea
tmen
t for
cou
ples
at r
isk?
-
0412
Leea
nd
a J
Wilt
on, M
elbo
urne
IVF
, Aus
tral
ia
Mit
ocho
ndri
al D
NA,
redo
x im
bala
nce
and
agei
ng -
056
7Ia
n T
rou
nce
, Uni
vers
ity
of M
elbo
urne
, Au
stra
lia
Disc
over
y of
str
uctu
ral v
aria
tion
in th
e hu
man
gen
ome
- 04
19St
eph
en W
Sch
erer
, The
Hos
pita
l for
Sic
k Ch
ildre
n, C
anad
a12
:05
Prom
inen
t use
of d
ista
l 5’ t
rans
crip
tion
st
art s
ites
and
dis
cove
ry o
f a la
rge
num
ber
of a
ddit
iona
l exo
ns in
EN
CODE
regi
ons
- 04
08A
lex
and
re R
eym
ond
, Uni
vers
ity
of
Laus
anne
, Sw
itze
rlan
d
12:0
5Po
lym
orph
ic m
icro
RNA-
targ
et
inte
ract
ions
: a n
ovel
sou
rce
of p
heno
typi
c va
riat
ion
- 04
24M
ich
el G
eorg
es, U
nive
rsit
y of
Liè
ge,
Belg
ium
12:3
0-
13:3
0
Lunc
hEx
hibi
tion
Hal
l 1
13:3
0-
14:3
0
Suth
erla
nd O
rati
onGr
eat H
all
Mee
ting
the
chal
leng
es o
f bre
ast c
ance
r gen
etic
s re
sear
ch fr
om D
own
Und
er -
042
5G
eorg
ia C
hen
evix
-Tre
nch
, Que
ensl
and
Inst
itut
e of
Med
ical
Res
earc
h, A
ustr
alia
3737
14:3
0-
16:3
0
Free
Pap
er -
GSA
04Ge
nom
ics
and
Gem
ome
Evol
utio
n II
P1/P
2
Chai
r Je
rem
y B
row
nlie
, Uni
vers
ity
of
Que
ensl
and,
Aus
tral
ia
14:3
0-
18:0
0
Invi
ted
Wor
ksho
p -
WS0
6Ge
neti
cs a
nd P
ublic
Hea
lth
in D
evel
opin
g Co
untr
ies
M1/
M2
Spon
sore
d by
Co-C
hair
s Vi
ctor
B P
ench
asza
deh
, Col
umbi
a U
nive
rsit
y, U
nite
d St
ates
Ala
n H
Bit
tles
, Edi
th C
owan
Uni
vers
ity,
Au
stra
lia
14:3
0-
16:3
0
Invi
ted
Wor
ksho
p -
WS0
5Cl
inic
al G
enom
ics
M3
Co-C
hair
s Pa
olo
Fort
ina,
Tho
mas
Jef
fers
on
Uni
vers
ity,
Uni
ted
Stat
esEd
ison
T L
iu, G
enom
e In
stit
ute
of
Sing
apor
e, S
inga
pore
Invi
ted
Wor
ksho
p -
WS0
7Ge
neti
cs o
f Ske
leta
l Dev
elop
men
tM
4
Co-C
hair
s D
avid
O S
illen
ce, T
he C
hild
ren'
s H
ospi
tal
at W
estm
ead,
Aus
tral
iaD
avid
L R
imoi
n, C
edar
s-Si
nai M
edic
al
Cent
er, U
nite
d St
ates
14:3
0-
16:3
0
Invi
ted
Wor
ksho
p -
WS0
8Q
ualit
y As
sura
nce
in M
olec
ular
Gen
etic
sP3
/P4/
P5
Co-C
hair
sR
ober
to G
uig
lian
i, H
ospi
tal d
e Cl
ínic
as
de P
orto
Ale
gre,
Bra
zil
Agn
es B
an
kier
, Roy
al C
hild
ren’
s H
ospi
tal,
Aust
ralia
14:3
0Ex
pans
ion
Of T
he B
acte
rici
dal/
Perm
eabi
lity
Incr
easi
ng-L
ike
(BPI
-Lik
e)
Prot
ein
Locu
s In
Cat
tle
- 04
26Th
omas
Wh
eele
r, A
gRes
earc
h R
uaku
ra
Res
earc
h Ce
ntre
, New
Zea
land
14:3
0Pr
iori
ty-s
etti
ng fo
r gen
etic
ser
vice
s in
de
velo
ping
cou
ntri
es -
043
6Vi
ctor
B P
ench
asza
deh,
Mai
lman
Sch
ool
of P
ublic
Hea
lth,
Col
umbi
a U
nive
rsit
y,
Uni
ted
Stat
es
14:3
0La
rge
scal
e sc
reen
s fo
r som
atic
mut
atio
ns
in h
uman
can
cer g
enom
es -
043
2M
ich
ael R
Str
atto
n, T
he W
ellc
ome
Trus
t Sa
nger
Ins
titu
te, U
nite
d K
ingd
om
Clin
ical
-mol
ecul
ar c
orre
lati
ons
in th
e sk
elet
al d
yspl
asia
s -
0449
Dav
id L
Rim
oin
, Ced
ars-
Sina
i Med
ical
Ce
nter
- U
CLA
Scho
ol o
f M
edic
ine,
Uni
ted
Stat
es
14:3
0Eu
roge
ntes
t: re
sear
ch, h
arm
oniz
atio
n an
d ed
ucat
ion
in Q
ualit
y As
sura
nce
in
Euro
pe -
045
3M
ich
ael
Mor
ris,
Gen
eva
Uni
vers
ity
Hos
pita
l, Sw
itze
rlan
d
14:4
5Ho
w to
des
ign
a co
mm
unit
y-ba
sed
thal
assa
emia
pre
vent
ion
prog
ram
me
- 04
37A
shra
f Sa
mav
at, C
entr
e fo
r D
isea
se
Cont
rol,
Min
istr
y of
Hea
lth
and
Med
ical
Ed
ucat
ion,
Ira
n
14:5
0Ap
plic
atio
n O
f The
Com
para
tive
Gen
omic
s To
olki
t (Co
gent
) To
Exa
min
ing
The
Evol
utio
n O
f DN
A’s
5th
Base
, 5-M
ethy
l-Cy
tosi
ne -
042
7G
avin
A H
utt
ley,
Cen
tre
for
Bioi
nfor
mat
ion
Scie
nce,
Joh
n Cu
rtin
Sc
hool
of
Med
ical
Res
earc
h an
d M
athe
mat
ical
Sci
ence
s In
stit
ute,
Au
stra
lian
Nat
io, A
ustr
alia
14:5
5Re
gula
tory
com
plia
nce
in C
linic
al
Labo
rato
ry G
enet
ics:
the
Aust
ralia
n Sc
ene
- 04
54D
esir
èe d
u S
art
, Vic
tori
an C
linic
al
Gen
etic
s Se
rvic
es, M
urdo
ch C
hild
rens
R
esea
rch
Inst
itut
e, A
ustr
alia
15:0
0M
edic
al g
enet
ic s
ervi
ces
in th
e ne
w S
outh
Af
rica
- 0
438
Arn
old
Ch
rist
ian
son
, Div
isio
n of
H
uman
Gen
etic
s, N
atio
nal
Hea
lth
Labo
rato
ry S
ervi
ve &
Uni
vers
ity
of t
he
Wit
wat
ersr
and,
Sou
th A
fric
a
15:0
0La
rge
scal
e ge
nom
ic a
naly
sis
of h
uman
ca
ncer
- 0
433
Dav
id D
L B
owte
ll, P
eter
Mac
Call
um
Canc
er C
entr
e, A
ustr
alia
Und
erst
andi
ng th
e m
olec
ular
pa
thog
enes
is o
f ske
leta
l dys
plas
ia th
ough
m
ouse
mod
els
- 04
50K
ath
ryn
SE
Chea
h, D
epar
tmen
t of
Bi
oche
mis
try,
Uni
vers
ity
of H
ong
Kon
g,
Hon
g K
ong
15:10
The
Ori
gin
And
Evol
utio
n O
f RPE
65 -
042
8In
grid
B J
akob
sen
, Uni
vers
ity
of
Que
ensl
and,
Aus
tral
ia15
:15In
tegr
atio
n of
gen
etic
ser
vice
s in
to th
e Si
ngle
Hea
lth
Syst
em in
Bra
zil -
043
9Ca
rlos
E S
tein
er, D
epar
tmen
t of
Med
ical
G
enet
ics,
Fac
ulty
of
Med
ical
Sci
ence
s,
Bra
zil
15:2
0Pr
esen
tati
onSa
ngk
ot M
arz
uki
, Eijk
man
Ins
titu
te f
or
Mol
ecul
ar B
iolo
gy, I
ndon
esia
15:3
0M
itoc
hond
rial
DN
A Va
riat
ion
Caus
es
Mea
sura
ble
Diff
eren
ces
In L
ife H
isto
ry
Trai
ts A
nd M
itoc
hond
rial
Met
abol
ism
In
Dros
ophi
la -
042
9J
Will
iam
Bal
lard
, Uni
vers
ity
of N
ew
Sout
h W
ales
, Aus
tral
ia
15:3
0Co
nsan
guin
ity,
end
ogam
y an
d ge
neti
c di
seas
e pr
ofi le
s in
dev
elop
ing
coun
trie
s -
0440
Ala
n H
Bit
tles
, Edi
th C
owan
Uni
vers
ity,
Au
stra
lia
15:3
0Th
e m
ulti
ple
face
s of
mel
anom
a:
geno
type
-phe
noty
pe re
lati
onsh
ips
and
thei
r im
pact
on
heal
th c
are
- 04
34D
anie
l Pin
kel,
Uni
vers
ity
of C
alif
orni
a Sa
n Fr
anci
sco,
Uni
ted
Stat
es
Auto
zygo
sity
map
ping
in
char
acte
riza
tion
of s
kele
tal l
oci -
045
1Va
lèri
e Co
rmie
r-D
aire
, Fra
nce
15:4
5Gl
obal
col
labo
rati
on fo
r the
dev
elop
men
t of
gen
etic
ser
vice
s in
dev
elop
ing
coun
trie
s: T
he ro
le o
f int
erna
tion
al
foun
dati
ons
- 04
41M
ich
ael K
atz,
Mar
ch o
f D
imes
Bir
th
Def
ects
Fou
ndat
ion,
Uni
ted
Stat
es
15:4
0Ex
tern
al q
ualit
y as
sess
men
t / p
rofi c
ienc
y te
stin
g: le
sson
s le
arne
d an
d fu
ture
ch
alle
nges
- 0
456
Elis
abe
th M
C D
equ
eker
, Uni
vers
ity
of
Leuv
en, B
elgi
um
15:5
0Do
Mit
ocho
ndri
al M
utat
ions
Aff
ect
Popu
lati
on V
iabi
lity?
: The
Eff
ect O
f M
itoc
hond
rial
DN
A M
utat
ions
On
Sper
m
Func
tion
- 0
430
Nei
l Gem
mel
l, U
nive
rsit
y of
Can
terb
ury,
N
ew Z
eala
nd16
:00
Glob
al c
olla
bora
tion
for t
he d
evel
opm
ent
of g
enet
ic s
ervi
ces
in d
evel
opin
g co
untr
ies:
the
role
of t
he E
urop
ean
Uni
on
- 04
42Je
an-J
acqu
es C
assi
man
, Cat
holic
U
nive
rsit
y of
Leu
ven
- D
ept.
Hum
an
Gen
etic
s, B
elgi
um
16:0
0M
icro
arra
ys fo
r pha
rmac
ogen
omic
and
ca
ncer
dia
gnos
tics
- 0
435
Wal
ter
H K
och
, Roc
he M
olec
ular
Sy
stem
s, U
nite
d St
ates
Vari
atio
n in
RU
NX2
rela
ted
to b
one
dens
ity
and
frac
ture
- 0
452
Nig
el A
Mor
riso
n, G
riffi
th
Uni
vers
ity,
Au
stra
lia
16:10
Path
olog
ene:
A G
enom
e-Sc
ale
Anal
ysis
O
f Pro
tein
Seq
uenc
e An
d In
tera
ctio
n Da
ta
For C
andi
date
Gen
e Pr
edic
tion
- 0
431
Mer
rid
ee A
Wou
ters
, Vic
tor
Chan
g Ca
rdia
c R
esea
rch
Inst
itut
e, A
ustr
alia
16:0
5Ge
neri
c EQ
A/PT
: exp
erie
nce
from
the
Euro
pean
DN
A se
quen
cing
sch
eme
- 04
57Si
mon
J P
att
on, E
urop
ean
Mol
ecul
ar
Gen
etic
s Q
ualit
y N
etw
ork
(EM
QN
),
Uni
ted
Kin
gdom
16:15
Gene
tics
and
Pub
lic H
ealt
h in
Dev
elop
ing
Coun
trie
s As
ia-P
ersp
ecti
ve -
044
3Po
rnsw
an W
asan
t, M
ahid
ol U
nive
rsit
y,
Thai
land
16:2
0Di
scus
sion
16:3
0-
17:3
0
Post
er S
essi
on 2
a (r
efer
to P
age
43)
Exhi
biti
on H
all 2
17:3
0-
18:3
0
Post
er S
essi
on 2
b (r
efer
to P
age
43)
Exhi
biti
on H
all 2
19:0
0-
22:3
0
Cong
ress
Din
ner
Sea
Wor
ld
Cont
inue
d o
ver
pag
e
3838W
edne
sday
, Aug
ust
9 Co
ntin
ued
Wor
ksho
p -
WS0
6 Co
ntin
ued
Gene
tics
and
Pub
lic H
ealt
h in
Dev
elop
ing
Coun
trie
sM
1/M
2
16:2
5Si
tuat
ion
of s
ickl
e ce
ll an
d ge
neti
cs
serv
ices
in N
iger
ia -
044
4O
lufe
mi
Ow
olab
i A
kin
yan
ju, S
ickl
e Ce
ll
Foun
dati
on, N
iger
ia
16:3
5Ge
neti
c se
rvic
es in
low
reso
urce
sit
uati
ons
- 04
45Ja
i R
up
Sin
gh, C
entr
e fo
r G
enet
ic
Dis
orde
rs, G
uru
Nan
ak D
ev U
nive
rsit
y,
Indi
a
16:4
5Ge
neti
c m
edic
ine
and
the
univ
ersa
l rig
ht
to h
ealt
h -
0446
Jose
-mar
ia C
antu
, Uni
vers
ity
of
Gua
dala
jara
, Mex
ico
16:5
5Gl
obal
WHO
’s H
uman
Gen
etic
s co
llabo
rati
on fo
r the
dev
elop
men
t of
gene
tic
serv
ices
in d
evel
opin
g co
untr
ies
- 04
47Vi
ctor
Bou
lyje
nko
v, W
orld
Hea
lth
Org
aniz
atio
n, S
wit
zerl
and
17:0
5Di
scus
sion
3939
4040Th
ursd
ay, A
ugus
t 10
08:3
0-
10:3
0
Free
Pap
er -
GSA
05Ge
neti
c Ba
sis
of A
dapt
atio
nP1
/P2
Chai
rIn
grid
B J
akob
sen
, Uni
vers
ity
of
Que
ensl
and,
Aus
tral
ia
Invi
ted
Sess
ion
- IS
13Th
e Ge
neti
cs o
f Sex
Det
erm
inat
ion
P3/P
4/P5
Co-C
hair
s Ju
dit
h A
llan
son
, Chi
ldre
ns H
ospi
tal o
f Ea
ster
n O
ntar
io, C
anad
aPe
ter
Koo
pm
an, U
nive
rsit
y of
Q
ueen
slan
d, A
ustr
alia
Invi
ted
Sess
ion
- IS
14Ph
arm
acog
enet
ic A
ppro
ache
s to
Co
mpl
ex D
isea
ses
Spo
nsor
ed b
yM
3
Co-C
hair
s Ju
erge
n K
V R
eich
ard
t, U
nive
rsit
y of
Sy
dney
, Aus
tral
iaLy
n G
riffi
th
s, G
riffi
th
Uni
vers
ity,
Au
stra
lia
Invi
ted
Sess
ion
- IS
15Th
e Be
ginn
ings
of H
uman
Cyt
ogen
etic
sM
4
Co-C
hair
s M
ac G
ard
ner
, Roy
al C
hild
ren'
s H
ospi
tal,
Aust
ralia
Pete
r S
Har
per
, Car
diff
Uni
vers
ity,
U
nite
d K
ingd
om
Invi
ted
Sess
ion
- IS
16Sy
nerg
ies
of G
enet
ic F
acto
rs a
nd
Infe
ctio
us A
gent
s in
the
Aeti
olog
y of
Di
seas
eM
1/M
2
Co-C
hair
s R
uth
F I
tzh
aki
, Uni
vers
ity
of
Man
ches
ter,
Uni
ted
Kin
gdom
An
dre
w R
ead
, St
Mar
y’s
Hos
pita
l, U
nite
d K
ingd
om
08:3
0Ge
neti
c lim
its
to e
volu
tion
ary
chan
ge
- 05
01A
ry A
Hof
fman
n, T
he U
nive
rsit
y of
M
elbo
urne
, Aus
tral
ia
08:3
0Se
x de
term
inat
ion:
less
ons
from
fa
mili
es a
nd e
mbr
yos
- 05
07H
arry
Ost
rer,
New
Yor
k U
nive
rsit
y Sc
hool
of
Med
icin
e, U
nite
d St
ates
08:3
0In
tegr
atio
n of
gen
etic
and
gen
e ex
pres
sion
to id
enti
fy p
athw
ays
for
com
plex
dis
ease
s -
0511
Ald
ons
Lusi
s, u
cla,
Uni
ted
Stat
es
08:3
0Th
e di
scov
ery
of th
e hu
man
ch
rom
osom
e nu
mbe
r - 0
516
Maj
A H
ult
en, D
epar
tmen
t of
Bi
olog
ical
Sci
ence
s, U
nive
rsit
y of
W
arw
ick,
Uni
ted
Kin
gdom
08:3
0Sy
nerg
ies
of g
enet
ic fa
ctor
s an
d in
fect
ious
age
nts
in th
e ae
tiol
ogy
of
dise
ase
- 05
23M
ary
Su
san
Bu
rnet
t, M
edSt
ar
Res
earc
h In
stit
ute,
Uni
ted
Stat
es
08:5
0Tr
ansc
ript
iona
l Res
pons
es O
f The
Cor
al
Reef
Fis
h Po
mac
entr
us M
oluc
cens
is T
o Te
mpe
ratu
re S
tres
s -
0502
Kar
in S
Kas
sah
n, J
ames
Coo
k U
nive
rsit
y, A
ustr
alia
08:5
5De
velo
ping
per
sona
lized
mol
ecul
ar
med
icin
e by
mic
roar
rays
- 0
512
Ru
ty M
ehri
an-S
hai
, Uni
vers
ity
of
Sout
hern
Cal
ifor
nia,
Uni
ted
Stat
es
08:5
0W
hy v
acci
nes
fail:
Is th
ere
a ge
neti
c ba
sis?
- 0
521
Alla
n W
Cri
pp
s, G
riffi
th U
nive
rsit
y,
Aust
ralia
09:0
0Th
e ro
le o
f nuc
lear
rece
ptor
s SF
1 and
DA
X1 in
the
tenu
ous
proc
ess
of s
ex
dete
rmin
atio
n -
0508
J La
rry
Jam
eson
, Nor
thw
este
rn
Uni
vers
ity
Fein
berg
Sch
ool
of M
edic
ine,
U
nite
d St
ates
09:0
0Th
e fi r
st h
uman
chr
omos
ome
abno
rmal
itie
s -
0517
Patr
icia
A J
acob
s, W
esse
x R
egio
nal
Gen
etic
s La
bora
tory
, Uni
ted
Kin
gdom
09:10
Mol
ecul
ar C
loni
ng a
nd C
hara
cter
isat
ion
Of F
our P
hosp
hate
Tra
nspo
rter
s CD
NA
In H
oop
Pine
Tre
es (
Arau
cari
a Cu
nnin
gham
ii) -
050
3Is
sa H
Med
raj,
Gri
ffi t
h U
nive
rsit
y,
Aust
ralia
09:2
0Ge
neti
c an
d ph
arm
acog
enet
ic s
tudi
es
in c
ardi
ovas
cula
r dis
ease
: the
role
of
sing
le n
ucle
otid
e po
lym
orph
ism
s in
im
prov
ing
drug
ther
apy
- 05
13G
iuse
pp
e N
ovel
li, T
or V
erga
ta
Uni
vers
ity
of R
ome,
Ita
ly
09:15
Vir
uses
and
apo
lipop
rote
in E
: a
dang
erou
s lia
ison
for A
lzhe
imer
’s
dise
ase
and
seve
ral i
nfec
tiou
s di
seas
es
- 05
22R
uth
F I
tzh
aki
, Uni
vers
ity
of
Man
ches
ter,
Uni
ted
Kin
gdom
09:3
0M
olec
ular
dis
sect
ion
of g
row
th,
vege
tati
ve p
hase
cha
nge,
pes
t re
sist
ance
, woo
d pr
oper
ties
, and
thei
r in
tera
ctio
ns in
Euc
alyp
tus
glob
ulus
-
0504
Sim
on P
Wh
itto
ck, U
nive
rsit
y of
Ta
sman
ia, A
ustr
alia
09:3
0Di
sord
ers
of s
ex d
evel
opm
ent:
new
ge
nes
and
new
nam
es -
050
9Er
ic V
ilain
, UCL
A, U
nite
d St
ates
09:4
5Bi
oche
mic
al a
nd p
harm
acog
enet
ic
stud
ies
of g
enet
ic v
aria
nts
- 05
14Ju
erge
n K
V R
eich
ard
t, U
nive
rsit
y of
Sy
dney
, Aus
tral
ia
09:3
0Fr
agile
sit
es o
n hu
man
chr
omos
omes
-
0518
Gra
nt
R S
uth
erla
nd
, Wom
en’s
and
Ch
ildre
n’s
Hos
pita
l, Au
stra
lia
09:4
0Ge
neti
c co
ntro
l of h
ost:
path
ogen
in
tera
ctio
ns in
mic
e -
0520
Gu
nd
ula
Min
-Oo,
McG
ill U
nive
rsit
y,
Cana
da
09:5
0A
Gene
tic
Anal
ysis
Of T
he R
espo
nse
To
Star
vati
on -
050
5 M
arga
ret
Kat
z, U
nive
rsit
y of
New
En
glan
d, A
ustr
alia
10:0
5Ph
arm
acog
enet
ics
in d
rug
deve
lopm
ent:
Alz
heim
er’s
Dis
ease
-
0515
Alle
n D
Ros
es, G
lax
oSm
ithK
line,
U
nite
d St
ates
10:0
5Sy
nerg
ies
of G
enet
ic F
acto
rs a
nd
Infe
ctio
us A
gent
s in
the
Etio
logy
of
Dise
ase:
Are
Gen
etic
Fac
tors
Invo
lved
in
CMV
Hea
ring
Los
s? -
056
8W
alt
er N
an
ce, V
irgi
nia
Com
mon
wea
lth
Uni
vers
ity,
Uni
ted
Stat
es
10:0
0A
new
app
roac
h to
iden
tify
ing
the
mol
ecul
ar b
asis
of g
onad
al d
ysfu
ncti
on
in s
ex re
vers
ed p
atie
nts
- 05
10A
nd
rew
Sin
clai
r, M
urdo
ch C
hild
ren’
s R
esea
rch
Inst
itut
e, A
ustr
alia
10:0
0Th
e de
velo
pmen
t of t
he Q
-ban
ding
te
chni
que
for i
dent
ifi ca
tion
of t
he 4
6 hu
man
chr
omos
omes
- 0
519
Lore
Zec
h, U
nive
rsit
y of
Upp
sala
, Sw
eden
10:10
Role
Of V
esic
ular
Tra
ffi ck
ing
In N
utri
ent
Sens
ing
- 05
06Ca
ra J
Eva
ns,
Uni
vers
ity
of N
ew
Engl
and,
Aus
tral
ia
10:3
0-
11:00
Mor
ning
Tea
Exhi
biti
on H
all 1
11:00 -
13:0
0
Free
Pap
er -
FP0
6Cl
inic
al G
enet
ics:
Bra
ins,
Bon
es a
nd B
ehav
iour
M3
Co-C
hair
s Er
ic A
Haa
n, W
omen
’s a
nd C
hild
ren’
s H
ospi
tal,
Aust
ralia
Jose
M C
antú
, Uni
vers
ity
of G
uada
laja
ra,
Mex
ico
Free
Pap
er -
FP0
7Ge
ne A
ctio
n -
Mou
se M
odel
sP3
/P4/
P5
Co-C
hair
s D
avid
L N
elso
n, B
aylo
r Co
lleg
e of
Med
icin
e,
Uni
ted
Stat
esEm
ma
Wh
itel
aw, Q
ueen
slan
d In
stit
ute
of
Med
ical
Res
earc
h, A
ustr
alia
Free
Pap
er -
FP0
8Co
mpl
ex D
isea
ses
M4
Co-C
hair
s M
arga
ret
A P
eric
ak-V
ance
, Duk
e U
nive
rsit
y M
edic
al C
ente
r, U
nite
d St
ates
Just
in P
Ru
bio,
The
How
ard
Flor
ey I
nsti
tute
, Au
stra
lia
Free
Pap
er -
FP0
9M
ore
Than
Rar
e Sy
ndro
mes
P1/P
2
Co-C
hair
s G
eorg
ia C
hen
evix
-Tre
nch
, Que
ensl
and
Inst
itut
e of
Med
ical
Res
earc
h, A
ustr
alia
Gra
eme
Suth
ers,
Wom
en’s
& C
hild
ren’
s H
ospi
tal,
Aust
ralia
Free
Pap
er -
FP1
0Ge
nom
e Ev
olut
ion
and
Popu
lati
on M
igra
tion
M1/
M2
Co-C
hair
s M
ich
ele
Ra
msa
y, N
HLS
and
Uni
vers
ity
of t
he
Wit
wat
ersr
and,
Sou
th A
fric
aSi
mon
Ea
stea
l, Pr
edic
tive
Med
icin
e G
roup
, Au
stra
lian
Nat
iona
l Uni
vers
ity,
Aus
tral
ia
11:00
Iden
tifi c
atio
n an
d fu
ncti
onal
ana
lysi
s of
m
utat
ions
that
cau
se s
pond
yloc
osta
l dys
osto
ses
- 05
25Sa
lly L
Du
nw
ood
ie, V
icto
r Ch
ang
Card
iac
Res
earc
h In
stit
ute,
Aus
tral
ia
Incr
ease
d do
sage
of D
SCR1
and
DYR
K1A
dest
abili
zes
NFA
T re
gula
tion
and
acc
ount
s fo
r Do
wn
synd
rom
e ph
enot
ypes
- 0
533
Uta
Fra
nck
e, S
tanf
ord
Uni
vers
ity,
Uni
ted
Stat
es
Link
age
anal
ysis
usi
ng 19
th c
entu
ry
gene
alog
ical
link
s in
ferr
ed fr
om g
enot
ypes
-
0541
Jim
Sta
nko
vich
, Wal
ter
& El
iza
Hal
l Ins
titu
te
of M
edic
al R
esea
rch,
Aus
tral
ia
Gene
rati
on o
f an
ATM
kno
ck in
mou
se w
ith
the
brea
st-c
ance
r sus
cept
ibili
ty m
utat
ion,
727
1T>G
-
0548
Jere
my
Arn
old
, Que
ensl
and
Inst
itut
e of
M
edic
al R
esea
rch,
Aus
tral
ia
Func
tion
al c
onse
rved
non
-cod
ing
sequ
ence
s ad
d a
new
dim
ensi
on to
can
dida
te d
isea
se
regi
ons
of th
e hu
man
gen
ome
- 05
56D
ebbi
e K
Goo
de,
Que
en M
ary
Uni
vers
ity
of
Lond
on, U
nite
d K
ingd
om
4141
11:15
Mol
ecul
ar g
enet
ic a
naly
sis
of th
e m
ulti
ple
pter
ygiu
m s
yndr
omes
- 0
526
Loui
se A
Bru
eton
, Clin
ical
Gen
etic
s U
nit,
Bi
rmin
gham
Wom
en's
Hos
pita
l, U
nite
d Ki
ngdo
m
Ove
rdos
e of
a s
hort
HSA
21 s
egm
ent c
ause
s re
duct
ion
of R
EST
tran
scri
pt le
vels
in h
uman
s an
d m
ouse
Dow
n sy
ndro
me
mod
els
- 05
34D
ean
Niz
etic
, Bar
ts &
The
Lon
don,
Que
en M
ary
Coll
ege
Med
ical
Sch
ool,
Uni
ted
Kin
gdom
A ge
nom
e-w
ide
dire
ct a
ssoc
iati
on s
tudy
of
Croh
n's
dise
ase
wit
h 19
,772
put
ativ
e fu
ncti
onal
co
ding
SN
Ps -
054
2Fr
anci
sco
M D
e La
Veg
a, A
pplie
d Bi
osys
tem
s,
Uni
ted
Stat
es
Incr
ease
d ca
ncer
risk
of h
eter
ozyg
otes
wit
h N
BS1
foun
der m
utat
ion
- 05
49K
arl S
per
ling,
Ins
titu
te o
f H
uman
Gen
etic
s,
Char
itè
- U
nive
rsit
átsm
ediz
in B
erlin
, Ger
man
y
Osc
illat
ing
evol
utio
n of
a m
amm
alia
n lo
cus
wit
h ov
erla
ppin
g re
adin
g fr
ames
: XLa
s/AL
EX
rela
y -
0557
An
ton
Nek
rute
nko
, Pen
n St
ate
Uni
vers
ity,
U
nite
d St
ates
11:30
Germ
line
KRAS
and
BRA
F m
utat
ions
in c
ardi
o-fa
cio-
cuta
neou
s (C
FC)
synd
rom
e -
0527
Tets
uya
Nii
hor
i, D
epar
tmen
t of
Med
ical
G
enet
ics,
Toh
oku
Uni
vers
ity
Scho
ol o
f M
edic
ine,
Ja
pan
The
frag
ile X
gen
e FM
R1 p
arti
cipa
tes
in c
ontr
ol
of th
e m
amm
alia
n ci
rcad
ian
cloc
k -
0535
Dav
id L
Nel
son
, Bay
lor
Coll
ege
of M
edic
ine,
U
nite
d St
ates
Gene
tic
and
epig
enet
ic ri
sk fa
ctor
s fo
r ast
hma
- 05
43M
anu
el A
R F
erre
ira
, Que
ensl
and
Inst
itut
e of
M
edic
al R
esea
rch,
Aus
tral
ia
Nijm
egen
Bre
akag
e Sy
ndro
me:
hyp
omor
phic
m
utat
ion,
pro
tein
exp
ress
ion
and
phen
otyp
ic
vari
abili
ty -
055
0M
arti
n D
igw
eed
, Ins
titu
t fü
r H
uman
gene
tik,
Ch
arit
è -
Uni
vers
itát
smed
izin
Ber
lin.,
Ger
man
y
Darw
in's
Fin
gerp
rint
: Acc
eler
ated
rece
nt
adap
tive
evo
luti
on in
hum
ans
- 05
58R
ober
t K
Moy
zis,
Dep
artm
ent
of B
iolo
gica
l Ch
emis
try,
Uni
vers
ity
of C
alif
orni
a, U
nite
d St
ates
11:45
A cl
inic
ally
sig
nifi c
ant N
F1 g
enot
ype-
phen
otyp
e co
rrel
atio
n: a
bsen
ce o
f neu
rofi b
rom
as is
as
soci
ated
wit
h a
c.29
70_2
972
delA
AT o
f the
NF1
ge
ne -
052
8M
een
a U
pad
hya
ya, I
nsti
tute
of
Med
ical
G
enet
ics,
Uni
ted
Kin
gdom
An in
duci
ble
mou
se m
odel
of R
NA
toxi
city
in
myo
toni
c m
uscu
lar d
ystr
ophy
- 0
536
Man
i S
Mah
adev
an, U
nive
rsit
y of
Vir
gini
a,
Uni
ted
Stat
es
Susc
epti
bilit
y to
chi
ldho
od H
TLV
-1 in
fect
ion
is
linke
d to
chr
omos
ome
6q27
- 0
544
Sabi
ne
Plan
cou
lain
e, I
NSE
RM
U55
0, F
ranc
e
LKB1
tum
or s
uppr
esso
r gen
e al
tera
tion
s in
sp
orad
ic lu
ng a
deno
carc
inom
as -
055
1M
onts
erra
t Sa
nch
ez-C
esp
edes
, Spa
nish
N
atio
nal C
ance
r Ce
ntre
, Spa
in
Mal
e m
utat
ion
bias
in th
e ag
e of
gen
omic
s:
Who
sho
uld
be in
the
driv
er's
sea
t? -
055
9K
ate
ryn
a D
Ma
kova
, Pen
n St
ate
Uni
vers
ity,
U
nite
d St
ates
12:0
0Ge
ne d
osag
e an
d w
illia
ms
synd
rom
e -
0529
May
Tas
sabe
hji
, The
Uni
vers
ity
of M
anch
este
r,
Uni
ted
Kin
gdom
An E
NU
scr
een
in th
e m
ouse
reve
als
the
role
of
epig
enet
ics
in d
isea
se p
heno
type
s -
0537
Aly
son
Ash
e, U
nive
rsit
y of
Syd
ney,
Aus
tral
ia
Iden
tifi c
atio
n of
two
nove
l QTL
s fo
r pre
-ec
lam
psia
sus
cept
ibili
ty o
n ch
rom
osom
es 5
q an
d 13
q us
ing
a va
rian
ce c
ompo
nent
s-ba
sed
linka
ge a
ppro
ach
- 05
45M
atth
ew P
Joh
nso
n, S
outh
wes
t Fo
unda
tion
fo
r Bi
omed
ical
Res
earc
h, U
nite
d St
ates
Pros
tate
Spe
cifi c
Ant
igen
(PSA
) ge
ne
poly
mor
phis
m a
nd it
s In
tera
ctio
n w
ith
Andr
ogen
Rec
epto
r Tri
nucl
eoti
de R
epea
ts (
CAG)
in
Pro
stat
e Ca
ncer
- 0
552
Ram
a D
evi
Mit
tal,
Sanj
ay G
andh
i Pos
t G
radu
ate
Inst
itut
e of
Med
ical
Sci
ence
s, I
ndia
The
anci
ent m
utat
iona
l eve
nt fo
r Mac
hado
-Jo
seph
dis
ease
(M
JD/S
CA3)
is o
lder
in Ja
pan
than
in E
urop
e: w
hat m
ore
has
Asia
to te
ll us
ab
out M
JD m
utat
iona
l ori
gins
? -
0560
Jorg
e Se
quei
ros,
IBM
C an
d IC
BAS,
Uni
v Po
rto,
Po
rtug
al
12:15
Gtf2
ird1
mut
ant m
ice
exhi
bit s
ocia
l phe
noty
pes
of W
illia
ms-
Beur
en s
yndr
ome
and
show
alt
ered
ex
pres
sion
of g
enes
impo
rtan
t for
neu
rona
l m
igra
tion
- 0
530
Lucy
R O
sbor
ne,
Uni
vers
ity
of T
oron
to, C
anad
a
Disr
upti
on o
f Bar
det-
Bied
l syn
drom
e ci
liary
pr
otei
ns p
ertu
rbs
plan
ar c
ell p
olar
ity
in
vert
ebra
tes
- 05
38A
lison
J R
oss,
Ins
titu
te o
f Ch
ild
Hea
lth,
U
nive
rsit
y Co
lleg
e Lo
ndon
, Uni
ted
Kin
gdom
The
LPIN
1 gen
e is
ass
ocia
ted
wit
h ob
esit
y an
d ca
rdio
vasc
ular
risk
fact
ors
at th
e po
pula
tion
le
vel -
054
6K
ati
Kom
ula
inen
, Nat
iona
l Pub
lic H
ealt
h In
stit
ute,
Dep
t. o
f M
olec
ular
Med
icin
e, F
inla
nd
Evid
ence
for a
bro
ader
role
of t
he tu
mor
su
ppre
ssor
BRC
A1 a
t spe
cifi c
gen
omic
sit
es
duri
ng th
eir r
eplic
atio
n -
0553
Gay
le J
Pag
eau
, Uni
vers
ity
of M
assa
chus
etts
M
edic
al S
choo
l, U
nite
d St
ates
Mit
ocho
ndri
al e
vide
nce
for t
he p
eopl
ing
of
Aust
ralia
- 0
562
Shei
la M
va
n H
olst
Pel
leka
an
, Sch
ool o
f Bi
otec
hnol
ogy
and
Biom
olec
ular
Sci
ence
s,
Uni
vers
ity
of N
ew S
outh
Wal
es, A
ustr
alia
12:3
0Ge
noty
pe-p
heno
type
cor
rela
tion
s in
Joub
ert
synd
rom
e -
0531
Ian
A G
lass
, Chi
ldre
n’s
Hos
pita
l an
d U
nive
rsit
y of
Was
hing
ton,
Uni
ted
Stat
es
Char
acte
riza
tion
of a
hyp
omor
phic
alle
le o
f the
FK
BP8
gene
- 0
539
Ric
har
d H
Fin
nel
l, Th
e Te
xas
Ins
titu
te f
or
Gen
omic
Med
icin
e, U
nite
d St
ates
Iden
tifi c
atio
n of
can
dida
te g
enes
for a
ge-
rela
ted
bloo
d pr
essu
re tr
aits
on
chro
mos
ome
11q u
sing
Gen
eSni
ffer
, gen
e ex
pres
sion
and
SN
P as
soci
atio
n an
alys
es -
054
7Su
e R
uth
erfo
rd, S
outh
wes
t Fo
unda
tion
for
Bi
omed
ical
Res
earc
h, U
nite
d St
ates
Telo
mer
e-m
edia
ted
geno
mic
inst
abili
ty in
br
east
tum
our c
ells
and
in c
ells
from
mic
e la
ckin
g br
east
can
cer g
enes
- 0
554
Prak
ash
Han
de,
Dep
artm
ent
of P
hysi
olog
y,
Yong
Loo
Lin
Sch
ool o
f M
edic
ine,
Nat
iona
l U
nive
rsit
y of
Sin
gapo
re
Phen
otyp
ical
Cha
ract
eris
atio
n of
the
Isol
ated
N
orfo
lk Is
land
Pop
ulat
ion
Focu
sing
on
Epid
emio
logi
cal I
ndic
ator
s of
Car
diov
ascu
lar
Dise
ase
- 05
71Cl
air
e B
ellis
, Gen
omic
s R
esea
rch
Cent
re, S
choo
l of
Med
ical
Sci
ence
s, G
riffi
th
Uni
vers
ity
Gol
d Co
ast,
Aus
tral
ia
12:4
5Tr
ansc
ript
leve
ls o
f the
inte
rmed
iate
siz
e or
gre
y zo
ne F
MR1
alle
les
are
elev
ated
in h
uman
mal
e ca
rrie
rs, a
nd c
orre
late
wit
h th
e nu
mbe
r of C
GG
repe
ats
- 05
32D
anu
ta Z
Loe
sch
, La
Trob
e U
nive
rsit
y,
Aust
ralia
A ge
ne fo
r spe
ed: T
he A
CTN
3 R5
77X
poly
mor
phis
m in
fl uen
ces
mus
cle
perf
orm
ance
-
0540
Dan
iel G
Mac
Art
hu
r, I
nsti
tute
for
N
euro
mus
cula
r R
esea
rch,
Chi
ldre
n’s
Hos
pita
l at
Wes
tmea
d, A
ustr
alia
Fam
ilial
agg
rega
tion
, lin
kage
, and
ass
ocia
tion
an
alys
is o
f aut
oant
ibod
y tr
aits
in S
yste
mic
Lu
pus
Eryt
hem
atos
us (
SLE)
fam
ilies
- 0
566
Joh
n H
arle
y, O
klah
oma
Med
ical
Res
earc
h Fo
unda
tion
, US
Vete
rans
Aff
airs
Med
ical
Ce
nter
, Uni
vers
ity
of O
klah
oma,
Uni
ted
Stat
es
Gene
tic
map
ping
in T
rp53
+/- m
ice
iden
tifi e
s DM
BT1 a
s a
pote
ntia
l mod
ifi er
of b
reas
t can
cer
risk
- 0
555
An
nek
e C
Bla
ckbu
rn, A
ustr
alia
n N
atio
nal
Uni
vers
ity,
Aus
tral
ia
Gene
tic
vari
atio
n of
the
popu
lati
ons
of th
e Ba
ltic
Sea
- 0
561
Tuu
li La
pp
ala
inen
, Fin
nish
Gen
ome
Cent
er,
Uni
vers
ity
of H
elsi
nki,
Finl
and
13:0
0-
14:0
0
Lunc
hPl
aza
Foye
r
14:0
0-
15:0
0
MJD
Whi
te A
ddre
ssGr
eat H
all
Jan
e H
ugh
es, G
riffi
th
Uni
vers
ity,
Aus
tral
ia
15:0
0-
16:3
0
Plen
ary
Sess
ion
- PL
06Gr
eat H
all
Chai
r Er
ic H
aan
, Wom
en's
and
Chi
ldre
n's
Hos
pita
l, Au
stra
lia
15:0
0Hu
man
Dis
ease
Gen
es: F
rom
Fam
ilies
to P
opul
atio
ns -
056
4Le
ena
Pelt
onen
, Uni
vers
ity
of H
elsi
nki,
Nat
iona
l Pub
lic H
ealt
h In
st. F
inla
nd a
nd B
road
Ins
t U
SA, F
inla
nd
15:3
0Ge
nom
ic A
ppro
ache
s to
Gen
etic
s -
0563
Ric
har
d G
ibbs
, Hum
an G
enom
e Se
quen
cing
Cen
ter,
Uni
ted
Stat
es
16:0
0Hu
man
Sex
Chr
omos
omes
and
the
Futu
re o
f Men
- 0
565
Jen
nif
er A
M G
rave
s, R
esea
rch
Scho
ol B
iolo
gica
l Sci
ence
s, A
NU
, Aus
tral
ia
16:3
0-
17:0
0
Awar
ds C
erem
ony
and
Clos
eGr
eat H
all
4242
1
International Congress of Human Genetics – Congress Highlights Media Contacts: Sarah Bartlett, Econnect Communication, (07) 3846 7111, 0404 504 258 – abstracts available Dr. Steff Williams, Bionexus, 0419 677 041 Congress Website: http://www.ichg2006.com/ The promise of therapeutic cloning Professor John Burn will emphasise the importance of discovering the key genetic steps involved in changing stem cells into different tissue types if we are to turn the promise into safe treatments. Professor Burn, the opening speaker at the conference, is head of the UK institute where scientists achieved the world's first successful therapeutic cloning in 2005, a success overshadowed by the fraudulent claims of Professor Hwang in Korea. John Burn is a regular government advisor and media commentator. Professor John Burn Institution: Institute of Human Genetics, UK Abstract: 0201 Speaking: Monday 7 August 0830 Title: Keeping genetics human Contact: +44 191 241 8611 Email: [email protected] Direct to consumer genetic tests – getting policy right now Some genetic tests are available directly to consumers – such as ancestry testing, sex identification, nutrigenomic, athletic performance, skin and other personal care areas and age management testing. It is widely thought that this market will grow in both type and size. There is increasing concern about how to ethically balance the competing interests of stakeholders; consumers’ right to know, government’s right to protect and corporate responsibility in ensuring that products and services are used ethically. The impact of direct to consumer test policy will be long lived and the time to get it right is now. Carol Isaacson Barash Institution: Genetics, Ethics & Policy Consulting, United States Abstract: 0346 Speaking: Tuesday 8 August 1145 Title: Ethical Challenges to Direct to Consumer Gene Testing Contact: +1 617 522 0845 Email: [email protected] Reviewing genetic testing guidelines in Australia Most, but not all, genetic testing laboratories in Australia are accredited by a government body, the National Association of Testing Authorities, Australia (NATA). Audits against key standards and guidelines are required by NATA every 3 years and provide formal recognition of the competence and reliability of testing laboratories. Guidelines for certified laboratories conducting genetic tests in Australia are currently being comprehensively reviewed and revised. Dr Desirée du Sart Institution: Murdoch Childrens Research Institute, Australia Abstract: 0454 Speaking: Wednesday 9 August 1455 Title: Regulatory Compliance in Clinical Laboratory Genetics: The Australian Scene Contact: +61 3 8341 6333 Email: [email protected]
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Addressing the challenges of public health genomics Dr Burke’s is currently President Elect of the American Society of Human Genetics. She is an expert geneticist known for his studies of predisposing genetic factors in such common and complex human diseases as diabetes, heart disease, and mental illness. Experts predict many benefits from genomic research, including innovative therapies and personalized prevention and drug selection. Yet most diseases of public health concern are influenced by multiple genetic, environmental and social factors. Given this complexity, how can genome-based research contribute to improved population health? The new multidisciplinary field of “public health genomics” can play an important role in addressing this challenge by developing methods and structures for the systematic integration of genomics knowledge within and across disciplines. Professor Wylie Burke Institution: University of Washington, USA Abstract: 0203 Speaking: Monday 7 August 0930 Title: Addressing the Challenges of Public Health Genomics Contact: +1 206 221 8452 Email: [email protected] Quitting smoking: Ethnic differences 1 in 5 New Zealanders smoke but the rate is markedly higher for Maori (46%). Variation in nicotine metabolic rate is thought to influence a smoker’s risk of becoming addicted, cigarette consumption and ability to quit. This latest unpublished data provides evidence that self-reported Maori ancestry correlates strongly with a the presence of a gene version which has lower ability to metabolise nicotine. Preliminary data also suggests that smokers attempting to quit using Nicotine Replacement Therapy may be more successful if they receive a dosage that matches their pre-quit nicotine levels. The overall goal of this new pharmacogenetic research is to contribute to more personalised nicotine replacement therapy and in turn help reduce smoking prevalence. Rod A Lea Institution: Institute of Environmental Science and Research, New Zealand Abstract: 0352 Speaking: Tuesday 8 August 1130 Title: Pharmacogenetics of Nicotine Replacement Therapy in New Zealand Contact: +64 4 914 0664 Email: [email protected] Alzheimers drug may only work for some Research has suggested that the drug Rosiglitazone could be a candidate drug in the treatment of Alzheimer’s patients. Rosiglitazone is a drug approved for the treatment of type 2 diabetes mellitus in 1999 and is now widely prescribed. A Phase 2 clinical trial of Rosiglitazone with 511 patients demonstrated no effect. However when the trial data was reexamined to take account of the genetic makeup of patients a subgroup showed significant improvement in their cognitive scores. With the trial suggesting that at least some patients, with a particular genetic profile, may benefit Rosiglitazone is now moving towards Phase III clinical trials. This finding demonstrates how the developing science of pharmacogenetics may lead to tailored therapies based upon a patients genetic profile. Allen D Roses Institution: GlaxoSmithKline, United States Abstract: 0515 Speaking: Thursday 10 August 1005 Title: Pharmacogenetics in Drug Development: Alzheimer’s Disease
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Contact: +1 919 483 7418 Email: [email protected] DNA forensics and mass tragedies The use of DNA profiling has revolutionized forensics. Mass tragedies such as the ‘World Trade Centre’ event and the Asian Tsunami present unique problems in terms of identification of human remains which are often in various stages of decay and dismemberment. However, in many cases scientists have to resort to relatives of the deceased for confirmation. The use of new methodologies in mass tragedies, based upon examining family relationships, will be presented. Professor Michael Conneally Institution: Indiana University School of Medicine Abstract: 0402 Speaking: Tuesday 8 August 0900 Title: The Role of DNA in Forensics and Mass Tragedies Contact: +1 317 274 5742 Email: [email protected] The quest for safer prenatal testing – concern of “at home” gender testing The hunt is on for better prenatal diagnostic tools than the current invasive procedures which carrying a small risk to the baby. During the 1990’s there was excitement that the analysis of fetal cells in the mother’s blood system could hold the key to alternatives. Bianchi’s research suggests that some fetal stem cells are transferred to the mother and may remain in her body for years where they have an important biological role. Whilst it has proven technically difficult to isolate sufficient numbers of fetal cells to develop new prenatal tests Bianchi’s latest research suggests that there is cell-free fetal DNA present in the mothers blood and this source has clinical value in detecting specific diseases in the fetus. This latest work also raises concerns about the availability of internet based “at-home” kits for gender selection. Professor Diana W Bianchi Institution: Tufts University of Medicine, Boston, USA Abstract: 0410 Speaking: Wednesday 9 August 1030 Title: Cell-free Nucleic Acids in the Body Fluids of Pregnant Women Contact: +1 617 636 6767 Email: [email protected] The consequences of seeking to live forever Robin Holliday is a fellow of the Royal Society and his research has helped us understand the biological reasons for ageing. The main conclusion is that ageing is due to the eventual failure of the maintenance of the body, and this also means that there are multiple causes of ageing. The evolved structure of the human body is in fact incompatible with continuous survival, and it can be shown that the increased investment in resources that would be needed to extend life span indefinitely would reduce Darwinian fitness. The evolution of a limited lifespan is the optimal strategy for species survival. Dr Robin Holliday Institution: Australian Academy of Science, Canberra, Australia Abstract: 0413 Speaking: Wednesday 9 August 1030 Title: The Biological Reasons for Ageing: A Major Discovery of the Late 20th Century Contact: +61 2 9873 3476 Email: [email protected] Gene for Speed
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Almost 1 in 5 people (more than 1 billion worldwide) are estimated to have a gene change which leads to a complete deficiency in the “gene for speed”. However recent studies amongst elite Australian sprint athletes show that they are less likely to have this change in the ACTN3 gene which is believed to be associated with muscle performance. Research using a mouse model is beginning to unravel how the different versions of this gene function and suggest that it is important in preventing muscle damage during contractions associated with power and sprint activities. Based upon their data they suggest that there may be an evolutionary trade off between the different versions of the gene such that power and endurances advantages are balanced. Daniel G MacArthur Institution: Children’s Hospital at Westmead, Sydney, Australia Abstract: 0540 Speaking: Thursday 10 August 1245 Title: A Gene for Speed: the ACTN3 R577X Polymorphism Influences Muscle Performance Contact: +61 2 9845 1905 Email: [email protected] Frozen alive: Gene secrets Dr Ken Storey’s research seeks out the basic principles of how organisms endure and flourish under some of the most daunting conditions on Earth. Although alien to the physiology of man, natural freeze tolerance is key to winter survival for various amphibians and reptiles as well as many invertebrate species. He is focusing on the genetic adjustments that support natural freezing survival including freeze responsive genes. He is particularly well known for his studies of frozen frogs that have made his work popular with TV shows and magazines. For more information on natural freeze tolerance go to: www.carleton.ca/~kbstorey. By unravelling the molecular secrets of natural freezing survival we advance our understanding of both cryoinjury and cryopreservation and further the development of organ cryopreservation technology. Detailed media release available: [email protected], 0404 504 258 Kenneth Storey Institution: Carleton University, Canada Abstract: 0363 Speaking: Tuesday 8 August 1400 Title: Frozen Alive: Gene Secrets of Freeze Tolerant Animals Show New Directions for Cryomedicine Contact: +1 613 520-3678 Email: [email protected] The hidden history of human genetics Professor Harper will discuss some of the lessons from the history of human genetics including the abuses of eugenics in the first part of the 20th century and how we might avoid comparable abuses in the future. He will also explore a largely unwritten history of medical genetics in Soviet Russia which led to the destruction of a body of research. Few people are aware of this early Russian contribution to human genetics. The opening of archives may now allow this story to be told full. He will argue that all countries need to take action to ensure that the history of human and medical genetics is preserved and made available to the wider community. Professor Peter Harper Institution: Cardiff University Abstract: 0401 Speaking: Wednesday 9 August 0830 Title: Learning from the past of genetics Contact: +44 29 2074 4054 Email: [email protected]
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Developing nations limited access to genetic medicine Genetic Medicine, with all its accomplishments and promises, has become too expensive and often inaccessible to developing countries. There is a need for a strong drive towards the Universal Right to Health in the UN Universal Declaration of Human Rights. The preventive and predictive attributes of Genetic Medicine are good arguments to lead a global effort. Professor Cantu is a member of the Ethics Committee of the Human Genome Organization (HUGO). Professor Jose-Maria Cantu Institution: University of Guadalajara, Mexico Abstract: 0046 Speaking: Wednesday 9 August 1645 Title: Genetic Medicine and the Universal Right to Health Email: [email protected], [email protected] WA scientists seek genetic samples of 2 million for research Lyle Palmer is leading a team developing the WA Genome Health Project which will seek to collect health data and biological samples from all consenting members of the living population of WA (2 million people). The project will pilot in early 2007 and is estimated to cost AUD $100m. Over 3,000 health parameters, including blood, will be collected from all volunteers. Realising the potential of genetic medicine will ultimately depend upon the availability of total population, longitudinal data and family record linkage so that all those with and without disease, their risk and protective factors, including both genetic and environmental contributions, can be studied in an unbiased way throughout the whole life span. Professor Palmer claims that a recently completed program of community outreach shows there is strong support for this project. He anticipates that the WA Genome Health Project will lead to significant new initiatives and collaborations relevant to genetic medicine at national and international levels. Professor Lyle Palmer Institution: Western Australian Institute for Medical Research Abstract: 0240 Speaking: Monday 7 August 1547 Title: The Western Australian Genome Health Project Contact: +61 8 9346 1061 Email: [email protected]
DNA ends hold secrets to combating ageing and cancer For immediate release An enzyme that is billions of years old holds the promise of renewing ageing tissues and combating cancer.
Known as telomerase, the biological enzyme replenishes DNA at the tips of chromosomes—an area called the telomere. A telomere is like the little plastic tip at the end of your shoelace that protects it from fraying.
Professor Elizabeth Blackburn from the University of California says that telomerase levels control the fine balance between ageing and immortality.
Without telomerase, chromosome ends dwindle away as cells divide, and this shortening of chromosomes contributes to the wear and tear of age.
“Recent clinical and experimental observations suggest there is a link between telomerase and diseases of ageing such as heart disease,” says Professor Blackburn.
“If we could reactivate telomerase function in ageing cells, we may be able to slow down the ageing process by repairing damaged tissues and organs.”
“But telomerase is the Dr Jekyll and Mr Hyde of cells. It can help us live longer, but too much of it in the wrong cells is associated with cancer,” adds Professor Blackburn.
Cancer cells often have high telomerase levels which contribute to making these cells immortal i.e. they divide indefinitely.
Professor Blackburn said that this property of cancer cells could be exploited.
“Developing new drugs that interfere with telomerase in tumours may be an effective way of fighting cancer,” she said.
Professor Blackburn will discuss her research program at the 11th International Congress of Human Genetics in Brisbane, August 6-10 2006.
For interview:
Professor Elizabeth Blackburn: Morris Herzstein Professor of Biology and Physiology in the Department of Biochemistry and Biophysics, University of California, United States.
Email: [email protected] and [email protected]
Phone while in Australia: Rydges South Bank Hotel, 07 3255 0822.
Media assistance: Congress highlights available on request
Sarah Bartlett: Phone: 07 3846 7111, 0404 504 258, Email: [email protected]
For more information about the Congress program: Professor Lyn Griffiths 07 5552 8664, mailto:[email protected]
ICHG2006 website: http://www.ichg2006.com
Freezing frogs may buy time for organ transplants **Embargoed until Monday August 7** A small freeze-tolerant frog is helping scientists develop new technologies that allow human organs to be stored frozen for months before being thawed out and transplanted.
Human organs are unable to survive long term when frozen at temperatures below 0o Celsius.
“Thirty years ago it was impossible to keep vital tissues and organs for transplant in cold storage for longer than 12-24 hours, and impossible to freeze them. Now, this window of opportunity has more than doubled. In the future, who knows?” says Professor Storey from Carlton University in Ottawa.
The Canadian wood frog (Rana sylvatica) freezes for several months during the harsh Canadian winter, then thaws and leaps into action in spring.
Professor Ken Storey said that wood frogs were sufficiently similar to humans and could therefore provide insights into how to prolong the viability of human organs available for transplant.
“We have identified three new genes in wood frogs that improve freezing survival of insect cells in the laboratory.”
“If we can figure out how this amphibian literally lives with ice in its veins, we might be able to use this information for medical purposes,” says Professor Storey.
The Canadian wood frog has several ways of surviving sub-zero temperatures. A complex molecular interaction involving different genes and proteins releases glucose into the animal’s cells, forming a slushy sugar solution that prevents the cells from shrinking beyond repair.
Other mechanisms trigger and guide ice growth throughout the blood and body cavities so that about 65 per cent of the frog’s total body water is turned to ice. On melting, the animal’s vital functions resume within minutes.
Professor Storey will discuss his research program at the International Congress of Human Genetics in Brisbane, August 6-10 2006, Brisbane Convention & Exhibition Centre.
For interview: Professor Ken Storey: Canada Research Chair in Molecular Physiology, Carleton University, Ottawa
Email: [email protected] and [email protected]
Website: www.carleton.ca/~kbstorey
Media assistance contact: Sarah Bartlett: Phone: 07 3846 7111, 0404 504 258, [email protected]
Dr Stephanie Williams, 0419 677 041
For more information about the Congress program: Professor Lyn Griffiths, 07 3735 7111, [email protected]
Congress website: http://www.ichg2006.com
MEDIA CONFERENCE SCHEDULE Monday, 7th August ‘New clues to intelligence’ Prof. Nick Martin
Queensland Institute of Medical Research, Australia Prof. Hans-Hilger Ropers Max-Planck, Institute for Molecular Genetics, Germany Assoc. Prof. Linda can Aelst Cold Spring Harbor Laboratory, USA
Tuesday, 8th August ‘Gypsies, Finns, Maoris & Norfolk Islanders hold secrets to human diseases’
Professor Luba Kalaydjieva Head, Laboratory for Molecular Genetics, Western Australian Institute for Medical Research Professor Leena Peltonen University of Helsinki, Finland Rod Lea Genetic Epidemiologist, Institute of Environmental Science and Research (ESR), New Zealand Professor Lyn Griffiths Griffith University, Brisbane
Wednesday, 9th August ‘Big science tackles the cancer genome’
Dr Georgia Chenevix-Trench: Head of Cancer Genetics. Queensland Institute of Medical Research (QIMR Professor David Bowtell: Research Director of the Peter MacCallum Cancer Centre, Melbourne. Professor Michael Stratton: Cancer Genome Project Wellcome Trust Sanger Institute, United Kingdom
Thursday, 10th August ‘Demise of Y chromosome challenges the future of men’
Professor Jenny Graves Comparative Genomics at Australian National University Dr Harry Ostrer Professor of Paediatrics, Pathology and Medicine, New York University Professor Andrew Sinclair Murdoch Children’s Research Institute and Dept. of Paediatrics, University of Melbourne
New clues to human intelligence Media Conference – International Congress of Human Genetics, Brisbane 6-10th August. **Embargoed until 7th August*** Have intelligent people been given a genetic leg-up? Or are they more intelligent due to how they’ve been raised? Three leading scientists will discuss their research at a media conference tomorrow. “Intelligence per se is difficult to measure but our studies suggest it would appear to be between 50 and 80% genetically influenced,” says Professor Nick Martin. Professor Nick Martin from the Queensland Institute of Medical Research is researching the contribution of genetics and the environment to intelligence in twins and their siblings. Identical twins brought up in the same environment have the same DNA, however nonidentical twins brought up in the same environment share only 50% of their genes. Comparison of the degree of similarity between identical and nonidentical twins can give an idea of how much variation in intelligence is due to nature and how much is nurture. “We’ve found two regions of DNA (on chromosomes 2q and 6p) that are associated with Intelligence Quotient (IQ), and several regions associated with reading,” he says. “Our recent data suggest that a gene previously associated with schizophrenia could also be involved in intelligence - we’re looking into this further,” he adds. Associate Professor Linda van Aelst, of Cold Spring Harbor Laboratory, USA, is researching the role of malfunctions in certain genes and the resulting affect on intelligence. “Our group has found a link between a form of mental retardation and the loss of a protein and is predominantly seen in boys,’ says Professor van Aelst. ‘Losing this protein impairs the brain’s capacity for learning and memory.’ “Intellectual disability affects 2% of the population and is one of the most important unsolved problems in healthcare,” says Professor Han-Hilger Ropers from the Max-Planck Institute of Molecular Genetics in Germany. “Our data show that most cases of intellectual disability are extremely complex,” he adds. The conference will be in held at 10:00am, Tuesday 8th August , Media Room (M7/M8) at the Brisbane Convention and Exhibition Centre Media Contact: Sarah Bartlett, Econnect Communication, 0404 504 258 Dr. Stephanie Williams, 0419 677 041 Contacts: Professor Linda van Aelst, Cold Spring Harbor Laboratory, USA, phone: +1 516 367-6829, [email protected], no mobile available Professor Hans-Hilger Ropers, Max-Planck Institute of Molecular Genetics, Germany, phone: + 49 30 8413 – 1240, [email protected], no mobile available Professor Nick Martin, Head of Genetic Epidemiology, Population Studies and Human Genetics, Queensland Institute of Medical Research, Australia, [email protected], no mobile available
Gypsies, Finns, Maoris and Norfolk Islanders hold secrets to human disease
Media Conference, International Congress of Human Genetics, Tuesday 8th August, Brisbane Convention & Exhibition Centre
Gypsies normally called on to look into the future are now providing a crystal ball picture of human genetic disease.
Scientists will discuss their studies of genetically isolated populations — European Gypsies, Norfolk Islanders, New Zealand Maoris, and Finns — at a media conference at this week’s International Congress of Human Genetics.
The studies look at how an understanding of common genetic diseases in smaller populations can benefit the greater human population. Isolated populations provide scientists with a concentration of information so that they can easily sample and compare genetic information. From the results, we can glean more about our history and predisposition to genetic diseases.
Professor Leena Peltonen is among leading molecular geneticists and the current president of the Human Genome Organisation. She is a pioneer in the use of genetically isolated populations to identify disease genes.
‘We have identified globally important genes behind high cholesterol and triglycerides, multiple sclerosis and schizophrenia using a special population of Finland,’ says Professor Peltonen. ‘The population has provided a short cut for identifying new disease genes and pathways, relevant for all people’
‘A single migration wave out of India around 1000 years ago has given rise to the current population of European gypsies’, says Professor Luba Kalaydjieva of the Western Australian Institute for Medical Research.
‘We have realised that you can’t go very far in discovering genetic structure and disease without understanding the cultural anthropology and social structure of a population’, Profesor Kalaydjieva continues. ‘There are close parallels between Gypsies and Ashkenazi Jews in both their social history and its biological consequences, and looking at the similarities and differences is fascinating.’
Dr Rod Lea is heading a study looking at ‘the last of the great migrations’ — that of the Polynesian voyagers to New Zealand. The study is searching for genes responsible for common disorders, such as obesity, by studying the genetic history of the Maori population.
Professor Lyn Griffiths of Griffith University is undertaking studies on migraine and cardiovascular disease in the Norfolk Island population.
The media conference will be held at 10:30 am Tuesday 8th August in room M7/M8 at the Brisbane Convention & Exhibition Centre
Media Contact: Sarah Bartlett, Econnect Communication 0404 504 258
Dr Stephanie Williams, 0419 677 041
Contact Details:
Professor Luba Kalaydjieva, Head, Laboratory for Molecular Genetics, Western Australian Institute for Medical Research:+61 8 9346 1946 Email: [email protected] mobile: 0438633602
Professor Leena Peltonen, University of Helsinki, Finland, + 358 9 4744 8393, [email protected]
Rod Lea, Genetic Epidemiologist, Institute of Environmental Science and Research (ESR), New Zealand, + 64 211 887 876, [email protected]
Professor Lyn Griffiths, GRC, Griffith University, 07 5552 8664, [email protected]
Big science tackles the cancer genome Media conference. International Congress of Human Genetics. Brisbane August 6 -10, 2006 Scientists are attempting to build a clearer picture of genes altered by cancer to determine ‘the cancer genome’. Three top scientists will discuss their latest findings at a media conference at this week’s International Congress of Human Genetics. One in eleven Australian women will develop breast cancer. While key genes involved in breast cancer that run in families were discovered in the 1990s, for sporadic breast cancers the picture is not as clear. “We need to form large international consortia to identify new genetic risks beyond reasonable doubt,” says Queensland Institute of Medical Research scientist Dr Georgia Chenevix-Trench. Dr Chenevix-Trench admits progress has been slow following the discovery of two major breast cancer susceptibility genes over a decade ago. The problem is breast cancer genetics is complex and there are difficulties in obtaining large numbers of gene samples to find the genes that each play a small role in the development of breast cancer. Dr. Chenevix-Trench is co-founder of kConFab (the Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer). The consortium was set up in 1997 to study of families at high risk of breast, and breast and ovarian cancer. “We are now working on a study of 20,000 breast cancer cases and 20,000 controls. This way we can find changes in genes that are truly significant.” Since its inception, kConFab material has been available to anyone in the world with approved projects, and now supports about 50 projects based in Australia, the Unites States and Europe. Samples from KConFab have been used in the Australian Ovarian Cancer Study (AOCS), one of the largest ovarian cancer studies in the world headed by Professor David Bowtell, Research Director of the Peter MacCallum Cancer Centre. Samples have also been made available to Professor Michael Stratton from the Wellcome Trust Sanger Institute in the United Kingdom in large scale screens for genes known to be altered in cancers. Dr Georgia Chenevix-Trench will be joined by Professor David Bowtell and Professor Michael Stratton at the Brisbane Convention and Exhibition Centre, during the International Congress of Human Genetics (ICHG) Wednesday August 9 at 10:00am (Conference room M7/M8). Media contact: Sarah Bartlett, Econnect Communication 0404 504 258 Dr. Stephanie Williams, BioNexus 0419 677 041 Dr Georgia Chenevix-Trench: Head of Cancer Genetics. Queensland Institute of Medical Research (QIMR), (07) 3362 0390, [email protected] Professor David Bowtell: Research Director of the Peter MacCallum Cancer Centre, Melbourne, 0417 538 345 or Saville South Bank, (07) 3305 2500. Professor Michael Stratton: Cancer Genome Project Wellcome Trust Sanger Institute, United Kingdom, +44 1223 494951 [email protected]
Demise of Y chromosome challenges the future of men **Embargoed until Thursday 9th August**** Media Conference, Thursday 9th August, The International Congress of Human Genetics, Brisbane 6-10 August, Brisbane Convention and Exhibition Centre
The Y chromosome in our genes determines whether or not we’ll become males. But the human Y chromosome is dying – so does this mean there won’t be any more male babies?
‘I predict the demise of the Y chromosome and I’ll stand by that,” says Jenny Graves, Professor of Comparative Genomics at Australian National University. “The only question is when.”
“It could be considered genetically catastrophic’ explains Prof Graves. ‘If a new process for sex determination for males isn’t invented by the human body, then that’s the end of the human race.”
According to Prof Graves, the spread of male infertility is one indicator that the Y chromosome is already having a hard time. “That’s because sperm genes, also on the Y chromosome, are very often deleted or messed up,” she says.
For other chromosomes, genetic ‘health’ is maintained by pairing and swapping of information so mistakes are repaired through the breeding process whereby exchange of undamaged regions occurs. The Y chromosome is all alone on the genome and so while its not repairing itself, it is dying generation after generation.
“It might be next week or many millions of years before the Y chromosome disappears,” explains Prof Graves. “It doesn’t necessarily mean the end of men, or even the human race, but we certainly don’t know how or if a new trigger for determining sex will be created.
“All we do know is that some rodents have lost their Y chromosome but still have male and female. But we have no idea how that happens or if the same process could happen in humans.”
There is a lot of debate about how fast the Y chromosome is degrading, and whether there are mechanisms that can save it. But, while many scientists are looking, there are no viable suggestions have yet been put forward.
“Men are more than just a Y chromosome!” protests Professor Andrew Sinclair from Murdoch Children’s Research Institute in Melbourne.
“Many other genes not on the Y chromosome are necessary for normal testis development and maleness. Some individuals develop and reproduce successfully as adult men without the Y chromosome.”
Prof Sinclair is using high density gene chips to examine these individuals in an effort to discover the genes vital for testis development and maleness.
Professors Graves and Sinclair will join Dr Harry Ostrer to discuss the future of men at the International Congress of Human Genetics on Thursday, 10 August.
10:30am, Media Room (M7/M8), Brisbane Convention and Exhibition Centre Media assistance: Sarah Bartlett, Econnect Communication 0404 504 258 Dr Stephanie Williams, Bionexus 0419 677 041 Contacts: Professor Jenny Graves – Comparative Genomics at Australian National University ph: 02 6125 2492, mobile/cell: 0429320972 Dr Harry Ostrer – Professor of Paediatrics, Pathology and Medicine, New York University, ph: + 1 212 263 7596 (14 hours behind AEST) mobile/cell: none Professor Andrew Sinclair – Murdoch Children’s Research Institute and Dept. of Paediatrics, University of Melbourne, ph: 03 8341 6424
Plaza Level
Mezzanine Level
Foyer Level
Exhibition Hall 1Exhibition Hall 2Exhibition Hall 3Exhibition Hall 4
Plaza Ballroom
Plaza Terrace Room
Plaza Level(Meeting Rooms P1 - P5)
Merivales Café Bar & Restaurant and Boardrooms
Great Hall
Mezzanine Level(Meeting Rooms M1 - M9)
Convention Centre Taxi Rank
The Great Hall seats up to 4,000 people auditorium style with the capacity to extend to 8,000
Flexibility of Great Hall allows for plenary sessions for 600 - 4000 tailored to events requirements
The Plaza Ballroom with spectacular city and skyline views is the Centre’s signature venue for gala events and caters for 1,380 banquet style
21 multi-purpose meeting rooms of varying capacities
VIP and speaker preparation rooms
One level of continuous air conditioned exhibition space totalling 25,000 square metres
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Exhibition space accessible by semi trailers
Availability of 61 x 2 tonne rigging points in exhibition halls
Undercover parking for 1,600 vehicles
Brisbane Convention & Exhibition Centre
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t: 61 7 3308 3000 toll free: 1800 063 308 e : [email protected] for further information on the Brisbane Convention & Exhibition Centre visit www.bcec.com.au
M4
EscalatorsGreat Hall
MezzanineFoyer
Escalators
VIPSuite
M3
M2
M1
M5M6M7M8M9
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Gross Areassquare metres square feet
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Meeting Room M1 167 90 90 150 44 36 12.2 12.9 157 1692 3.6
Meeting Room M2 165 90 90 150 44 36 12.2 12.3 149 1604 3.6
Meeting Room M1 & M2 370 210 210 300 89 78 12.2 25.2 306 3296 3.6
Meeting Room M3 560 360 330 500 92 78 25.5 17.9 455 4900 4.3
Meeting Room M4 560 360 320 500 92 78 24.2 17.9 432 4651 4.3
Meeting Room M3 & M4 1104 690 640 1000 152 - 49.7 17.9 887 9551 4.3
Meeting Room M5 24 12 12 24 15 16 50.9 4.7 28 297 3.3
Meeting Room M6 24 12 12 24 15 16 5.8 4.7 27 295 3.3
Meeting Room M5 & M6 48 36 24 50 33 34 11.7 4.7 55 592 3.3
Meeting Room M7 24 12 12 24 15 16 5.8 4.7 27 295 3.3
Meeting Room M8 24 12 12 24 15 16 5.7 4.7 27 289 3.3
Meeting Room M7 & M8 48 36 24 50 33 34 11.5 4.7 54 584 3.3
Meeting Room M9 45 24 24 45 27 22 8.4 5.3 44 475 3.3
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Brisbane Convention & Exhibition Centre
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t: 61 7 3308 3000 toll free: 1800 063 308 e: [email protected] for further information on the Brisbane Convention & Exhibition Centre visit www.bcec.com.au
