www.nature.com/ejhg
EJHG_OFC.indd 1 4/1/2006 10:58:05 AMEuropean
Journal
of
Human
Genetics
V
olume
14
•
Supplement
1
May
2006
14
S1
European Human Genetics
Conference 2006
in conjunction with the
European Meeting on
Psychosocial Aspects
of Genetics
May 6 – 9, 2006
Amsterdam, The Netherlands
Programme and Abstracts
Volume 14 Supplement 1 May 2006
European Society of Human Genetics
EUROPEAN
HUmAN GENEtics
cONFERENcE 2006
in conjunction with the
European meeting on
Psychosocial Aspects of Genetics
RAi congress center
Amsterdam, the Netherlands
saturday, may 6 – tuesday may 9, 2006
Final Programme and Abstracts
www.eshg.org/eshg2006
General
Welcoming Addresses . . . .00
Acknowledgements . . . .00
Committees, Boards . . . .00
Floor Plan of the RAI Congress Centre . . . .00
The Programme at a Glance . . . .00
Scientific Programme
- Saturday, May 6, 2006 . . . .00
- Sunday, May 7, 2006 . . . .00
- Monday, May 8, 2006 . . . .00
- Tuesday, May 9, 2006 . . . .00
Workshop Descriptions . . . .00
Satellite Meetings . . . .00
Business and Adjunct Meetings . . . .00
Poster Topics . . . .00
Scientific Programme Information – Awards . . . .00
EMPAG Scientific Programme
- Saturday, May 6, 2006 . . . .00
- Sunday, May 7, 2006 . . . .00
- Monday, May 8, 2006 . . . .00
- Tuesday, May 9, 2006 . . . .00
Poster Topics . . . .00
Scientific Programme Information . . . .00
information
General Information . . . .00
Registration fees . . . .00
Social Events . . . .00
Exhibition
Information . . . .00
Exhibitors . . . .00
Exhibition Floor Plan . . . .00
Exhibitors Listing . . . .00
Products and Services Index . . . .00
Abstracts
Abstracts . . . .00
EMPAG Abstracts . . . .00
Author Index . . . .00
Keyword Index . . . .00
table of contents
Dear colleagues,
We cordially welcome you at the 38th European Human Genetics Conference (EHGC) in Amsterdam . This meeting
will continue in the successful tradition of excellent conferences that cover the latest developments in the fields of
human genetics and genomics that are of interest both for clinicians and research scientists .
The city of Amsterdam is, without any doubt, one of the most colourful cities in the world with a mix of cultures
re-sulting from its long history of international trade . The city is a perfect blend of its rich history and modern trade,
technology and science . Amsterdam is famous for its 17th century historic centre, its museums that display works
of Dutch painters such as Rembrandt, Vermeer and Van Gogh, its multicultural markets and picturesque
house-boats . In addition to its daytime attractions Amsterdam has an excellent reputation for its evening entertainment .
The Scientific Programme Committee was successful in inviting a number of outstanding international and local
speakers in order to offer you a very attractive scientific programme.
On the evening of Monday May 8 I have the pleasure to invite you to the congress party which will be
celebrat-ed in NEMO . NEMO is a new science and celebrat-education museum that is attractively locatcelebrat-ed close to the center of
Amsterdam on the waterfront . The NEMO building has been designed by the Italian architect Renzo Piano and its
striking exterior has been compared to the huge bow of a ship . Inside you will be able to enjoy the exhibitions, food
and live music .
We sincerely hope that this meeting will not only meet your expectations from the scientific, but also from the social
point of view .
Peter Heutink
Local Host ESHG 2006
Welcome
We welcome all colleagues with an interest in the psychological and social aspects of genetic counselling and genetic
testing or in the psychosocial impact of genetic disease .
The 10th European Meeting on Psychosocial Aspects of Genetics in Amsterdam is held for the third time in
conjunc-tion with the European Conference for Human Genetics . The success of the EMPAG meeting in Strasbourg in 2002
and Munich in 2004 with many new participants, also from outside Europe, was a major reason to continue the joint
organisation .
The EMPAG-meeting in Amsterdam offers an excellent and multifaceted programme to attract genetic counsellors,
genetic associates, psychologists, social workers, medical sociologists, epidemiologists, genetic nurses, clinical
ge-neticists and others with a particular attention in psychological and social aspects of genetics . The meeting includes
plenary sessions, poster presentations and workshops organised by the EMPAG scientific committee as well as
ses-sions jointly organised by the ESHG/EMPAG committees. The scientific committee has tried to achieve a good
bal-ance between research and practice and to provide sufficient time for interaction and discussion. Multidisciplinarity is
a major characteristic of the meeting . Participants of the European Conference of Human Genetics are welcome in
all EMPAG-sessions and EMPAG-participants have access to all ESHG-sessions .
We are glad you joined us here in Amsterdam for an exciting EMPAG-meeting!
Lauren Kerzin-Storrar and Gerry Evers-Kiebooms
Co-chairs of the EMPAG scientific committee
The European Human Genetics Conference gratefully acknowledges the support of the following companies and
organisations (list correct as per date of printing):
• Abbott Molecular
• Illumina
• ABgene
• Innogenetics
• Affymetrix
• Invitrogen
• Agilent Technologies
•
NGFN – German National Genome Research Network
• Applied Biosystems
• Qiagen
• GE Healthcare
• Roche Diagnostics
• GlaxoSmithKline
• Shire Human Genetic Therapies
• Idaho Technology
Future European Human Genetics conferences
European Human Genetics Conference 2007
Nice, France, June 16-19, 2007
European society of Human Genetics
ESHG Office
European Society of Human Genetics
c/o Vienna Medical Academy
Alserstrasse 4
1090 Vienna
Austria
Tel: +43 1 405 13 83 20
Fax: +43 1 405 13 83 23
Email:
office@eshg.org
Website:
www .eshg .org
Executive Board 2005-2006
President
Andres Metspalu, EE
Vice-President
Leena Peltonen, FE
President-Elect
John Burn, UK
Secretary-general
Helena Kääriäinen, FI
Deputy secretary-general
Thomas Meitinger, DE
Treasurer
Andrew Read, UK
Scientific Programme
committee
Chair
Han Brunner, NL
Members
Thierry Frébourg, FR
Paulo Gasparini, IT
Peter Heutink (Local Host), NL
Juha Kere, SE
Peter Lichter, DE
Stanislas Lyonnet, FR
Milan Macek, Jr ., CZ
Andre Reis, DE
Mariano RocchiIT
Raquel Seruca, PT
Cornelia van Duijn, NL
GertJan van Ommen, NL
Andrew Wilkie, UK
Brunhilde Wirth, DE
BOARD mEmBERs
LiAisON mEmBERs
Nurten Akarsu, TR
Jacques Beckmann, CH
Alexis Brice, FR
Karen Brondum-Nielsen, DK
Francoise Clerget-Darpoux , FR
Dian Donnai, UK
Thoas Fioretos, SE
Thierry Frebourg, FR
Vaidutis Kucinskas, LT
Nicolas Levy, FR
Milan Macek, CZ
Gert Matthijs, BE
Pier Franco Pignatti, IT
Alessandra Renieri, IT
Silke Sperling, DE
Eduardo Tizzano, ES
Veronica van Heyningen, UK
GertJan van Ommen, NL
Christos Yapijakis, GR
Ségolène Aymé, FR
Chair, PPPC
Han Brunner, NL
Chair, SPC
Jean-Jacques Cassiman, BE
IFHGS
Domenico Coviello, IT
Chair, Education Committee
Further information on structure and organisation can be found on the website
www.eshg.org
European congress of Human Genetics 2006
conference Organisation, Abstract
management
ESHG 2006 Secretariat
c/o Vienna Medical Academy
Mr . Jerome del Picchia
Alser Strasse 4
A-1090 Vienna, Austria
Tel: +43 1 405 13 83 22
Fax: +43 1 407 82 74
eshg2006@medacad.org
www .medacad .org
Exhibition, sponsoring and
commercial satellites
Rose International
Exhibition Management and Congress
Consultancy bv
Ms . Jantie de Roos
P .O . Box 93260
NL-2509 AG The Hague
The Netherlands
Tel: +31 70 383 8901
Fax: +31 70 381 8936
eshg@rose-international.com
www .rose-international .com
Hotel Accommodation
RAI Hotel & Travel Service
P .O . Box 77777
NL-1070 MS Amsterdam
The Netherlands
T: +31 (0)20 549 1520
F: +31 (0)20 549 1946
hotelservice@rai.nl
www .rai .nl/hotelservice
LSCN-ADS-0002
Rev
01
High Throughput Mutation Discovery
The LightScanner is the only instrument designed specifically
for post-PCR Hi-Res Melting applications. Using 96 or 384 well
plates, the instrument is designed to meet the needs of today’s
high throughput mutation detection and gene scanning projects.
• Requires no post-PCR processing
• Superb sensitivity and specificity enable detection of
both heterozygous and homozygous mutations
• Provides results in less than 5 minutes
• Costs less than competing technologies
• Saves you 99% of your sequencing budget
390 Wakara Way, Salt Lake City, Utah 84108, USA | 1-800-735-6544 | www.idahotech.com Innovative solutions for pathogen identifi cation and DNA research
Mutation Detection and Gene Scanning
Hi-Res Melting
™
Fast, Simple and Economical
LightScanner
®
Instrument
See BIOKÉ, at stand #30 to learn
more about this amazing technology,
or online at www.idahotech.com
Floor Plan
Main Entrance Registration Area Preview Room
Access via Forum 1st Floor
10 = Exhibition – Posters – Coffee – Lunch Boxes – Internet Café. Access via Forum 1st Floor
1
stFloor
Amsterdam Suite
Exhibition – Posters – Coffee – Lunch Boxes – Internet Café
Access via Forum 1st Floor
Ground Floor
s
aturday
,
m
ay 6, 2006
t ime Auditorium Forum Room N-N1-O-O1 Room A Room L (E m P AG) Room B 12.30– 14 .00 ES2 . Statistical GeneticAnalysis of Complex Phenotypes: Focus on Association Studies
14.00– 15 .30
ES3
. Practical man
-agement in familial cancer
ES1 . Genetic coun -selling 16:00– 16 .30 Opening Ceremony W elcoming Addresses 16.30 – 18 .00 P1 . Advances in genet -ics EPL1 . Reproductive Decision Making I 18.00– 18 .30 Coffee Break 18.30 – 19 .45 P2 . What’ s new? EPL2 . Communication 20 .00 W elcome Reception
s
unday
,
m
ay 7, 2006
t ime Auditorium Forum Room N-N1-O-O1 Room A Room L (E m P AG) Room B s atellite m eetings 08.45– 10 .15 S1 . Understandingcomplex diseases by endophenotypes
S2 . Genetics of geno -dermatoses 3 speakers S3 .
The new world of
RNA EPL3 . Strategies and process 10.15– 10 .45 Coffee / Poster V iewing / Exhibition 10.45– 11 .15 EPL 4 . Predictive T esting I 11.15– 12 .15
Poster discussion with presenters (odd poster numbers)
Room R/
s
1
1.15-12.45 hrs Abbott Molecular Satellite Meeting
Room
c
1
1.15-12.45 hrs GE Healthcare Satellite Meeting
12.15– 13 .15 Lunch / Poster V iewing / Exhibition 13.15– 14 .45 W1 . Syndrome Identification I W6 . Cytogenetics W3 . Human Genome variability W5 . Quality control W2 . Community Genetics W4 . T win research
Room P 13.00-14.30 hrs Affymetrix Satellite Meeting
Room m 13.00-14.30 hrs Roche Diagnostics Satellite Meeting 15.00– 16 .30 C1 . Genetic analysis of complex disease I C2 . Clinical genetics I C3 . Neurogenetics C4 . Cancer genetics
EPL5 Reproductive Decision Making II
16.30– 17 .00 Coffee / Poster V iewing / Exhibition 17.00– 18 .30 S4 . Genetics of sense organs S5 . Infectious diseas
-es: Genetics matters!
S6 . Chromosomal segregation S7 . Autonomy in decision
making (with EMP
AG)
18.45– 19 .30 ESHG Membership Meeting
Plenary Session Symposium Concurrent Session W orkshop Educational Session EMP AG Session Satellite Symposium
Programme at a Glance
m
onday
,
m
ay 8, 2006
t ime Auditorium Forum Room N-N1-O-O1 Room A Room L (E m P AG) Room B s atellite m eetings 08.45– 10 .15 P3 Pathogenesis of hu-man genetic disease
EPL6 Predictive Testing II
10.15– 10 .45
Coffee / Poster V
iewing / Exhibition
10.45– 11 .15 EPL7 Beliefs and Cultural
Aspects
11.15– 12 .15
Poster discussion with presenters (even poster numbers)
Room R/
s
1
1.15-12.45 hrs Agilent Satellite Meeting
Room
m
1
1.15-12.45 hrs Shire Satellite Meeting
12.15– 13 .15 Lunch / Poster V iewing / Exhibition 13.15– 14 .45 W7 . Syndrome Identification II W9 . Non-invasive pre -natal diagnosis W8 . Genetic education W10 . History of Genetics W12 . Challenging
genetic counselling case discussion (EMP
AG) W1 1 . EU projects work -shop Room c /D 13.00-14.30 hrs Ap p lie d B io sy st e m s Satellite Meeting
Room P 13.00-14.30 hrs QIAGEN Satellite Meeting
15.00– 16 .30 C5 . Genetic analysis of complex disease II C6 . Clinical genetics II C7 . Molecular mecha -nisms of disease C8
. Prenatal and preim
-plantation diagnosis
EPL8 Living with Genetic Disease I
C9 . Therapy for genetic disease 16 .30 Coffee / Poster V iewing / Exhibition 17.00– 18 .30 S8 . Recent advances in neurogenetics S9 . Aneuploidy S10 . Comparative genomics S1 1 . T owards measur
-ing quality of genetic Counselling (EMP
AG)
19
.30
Congress Party at NEMO Science Center
t
uesday
,
m
ay 9, 2006
t ime Auditorium Forum Room N-N1-O-O1 Room A Room L (E m P AG) Room B 08.45– 10 .15 S12 . Genetics based cancer treatment S13 . Genetics ofspeech, reading, writing
S14
. Heart disease
– congenital and devel
-opmental
EW1
.
An approach to
explore meaning in the context of genetic coun
-selling EW2 .Using meta-ethnography to syn
-thesise qualitative research
10.15– 10 .45 Coffee / Poster V iewing / Exhibition 10.45– 12 .15 C10 . Genetic analysis of complex disease II I C1 1 . Clinical and mo -lecular cytogenetics C12 . Molecular dysmor -phology C13 . Genomics, T echnology
EPL9 Living with Genetic Disease II
12.15– 13 .15
Lunch / Poster Removal / Exhibition
13.15– 14 .00 P4: Nobel Laureate Lecture: Humanity’
s Genes 14.00– 14 .45 Journal A wards Y oung Investigator A wards 14.45– 15 .30 P5: ESHG A ward
Lecture: Making eyes: lessons from ocular malformations
Plenary Session Symposium Concurrent Session W orkshop Educational Session EMP AG Session Satellite Symposium
Programme at a Glance
10
time Auditorium Room L Room N-N1-O-O1
12.30
-Educational session 2
statistical Genetic Analysis of complex Phenotypes: Focus on Association studies (Live talks and recordings from the Bertinoro Meeting)
F . Clerget-Darpoux, C . van Duijn, Y . Aulchenko 14.00 -15.30 Educational session 1 Genetic counselling L . Kerzin-Storrar Educational session 3
Practical management in familial cancer
T . Frébourg, R . Seruca 16.00 Opening ceremony
Chair: P . Heutink, A . Metspalu Welcoming Addresses by: Peter Heutink
Local Host
Andres Metspalu
President of the European Society of Human Genetics
Gerry Every Kiebooms
Co-Chair EMPAG Scietific Committee 16.30
-18.00
Opening Plenary session P1 Advances in genetics Chair: P . Heutink, A . Metspalu
16.30 PL1. Dissecting the molecular pathology of coeliac disease
C. Wijmenga
17.00 PL2. Circadian biology
J. Meijer
17.30 PL3. Impact of genetic testing on breast cancer care, new developments
H. Meijers-Heijboer
18.00 -18.30
Coffee Break
Scientific Programme – Saturday, May 6, 2006
Abbott Satellite Symposium
Trends and Advances in Pre-/Postnatal Molecular Diagnostics
38th European Human Genetics Conference (EHGC)
RAI Congress Center, Amsterdam, The Netherlands
Room R+S · 7 May 2006, 11:15 – 12:45 hrs
Chair: J. Harper, London, UK
Talk 1: Preimplantation Genetic Diagnosis and Implications for the Clinic - The Value of FISH
J. Harper, London, UK
Talk 2: Meeting the Challenges of Mutation and Variant Detection by DNA Sequencing:
The ASSIGN ATF Approach
D. Sayer, Perth, Australia
Talk 3: Improved Fragile X Diagnosis Through Superior PCR Detection
E. Schreiber, Alameda, USA
11
time Auditorium 18.30 -20.00 Plenary session P2 What’s new?Chair: G .J .B . van Ommen, H . Kääriäinen
18.30 PL4. Recent discoveries in the genetics of common diseases: selection and population history
K. Stefansson
19.00 c01. Genomewide Quantitative Trait Association Study of Cardiac Repolarization (QT-interval) Identifies and fine maps a QTL to the CAPON/ NOS1AP Gene
A. S. Pfeufer, D. E. Arking, W. Post, W. H. L. Kao, M.
Ike-da, K. West, C. Kashuk, M. Akyol, S. Perz, S. Jalilzadeh, T. Illig, C. Gieger, H. E. Wichmann, E. Marban, P. M. Spooner, S. Kaab, A. Chakravarti, T. Meitinger
19.15
c02. Mutations in the facilitative glucose transporter GLUT10 alter arterial patterning and cause Arterial Tortuosity Syndrome
P. J. Coucke, A. Willaert, M. W. Wessels, B. Callewaert, N.
Zoppi, J. De Backer, J. E. Fox, G. M. S. Mancini, M. Kam-bouris, R. Gardella, F. Facchetti, P. J. Willems, R. Forsyth, H. C. Dietz, S. Barlati, M. Colombi, B. Loeys, A. De Paepe
19.30 c03. An extended consanguineous BBS family with two mutant genes, 3 mutations and no triallelism allows identification of a novel major BBS gene
H. J. Dollfus, V. Laurier, J. Muller, C. Stoetzel, N. Salem,
E. Chouery, S. Corbani, N. Jalk, E. E. Davis, S. Rix, J. Badano, C. Leitch, C. Leitch, A. Verloes, P. Beales, O. Poch, D. Bonneau, A. Mégarbané, N. Katsanis, J. Mandel
20.00 Welcome Reception in the RAI - Congress Centre
Scientific Programme – Saturday, May 6, 2006
GE Healthcare invites you to attend a satellite meeting, titled:
Array CGH technologies for disease diagnosis & genetic testing
Date:
Sunday, 7 May 2006
Time:
11.15 – 12.45*
Room: C
To register, visit booth 310
www.gehealthcare.com/lifesciences
*
Free lunch for participants after the satellite meeting. Places are limited, so please register to avoid disappointment.GE Healthcare
© 2006 General Electric Company – All rights reserved. GE and GE Monogram are trademarks of General Electric Company
1
time Auditorium Forum Room N-N1-O-O1
08.45 -10.15
concurrent symposium s1
Understanding complex diseases by endophenotypes
Chair: C . van Duijn, D . Boomsma
concurrent symposium s2 Genetics of genodermatoses
Chair: A . Reis, H .G . Brunner
concurrent symposium s3 the new world of RNA
Chair: B . Wirth, S . van der Maarel 08.45 s01. Analysis of quantitative trait loci
H. Göring
s04. Ectodermal dysplasias
M. Mikkola
s07. Mechanism and medical implica-tions of RNA surveillance by Nonsense Mediated decay
A. Kulozik
09.15 s02. Endophenotypes for cognitive ability
E. de Geus, D. Boomsma, S. van der Sluis, D.
Smit, D. Posthuma
s05. Ichthyosis
P. Steylen
s08. RNA splicing in cancer
J. P. Venables
09.45 s03. Gene Expression signatures identify clinically relevant subgroups of cancer - Examples from colon and bladder
T. Orntoft
s06. Genetics of skin pigmentation and pigmentary diseases
R. Spritz
s09. Genetics of variation in human gene expression
V. G. Cheung
10.15 -10.45
Coffee Break / Poster viewing / Exhibition
11.15 -12.15
Poster viewing with presenters (odd poster numbers) 12.15
-13.15
Lunch / Poster viewing / Exhibition
time Auditorium Forum Room N-N1-O-O1 Room A Room B Room L
13.15 -14.45 Workshop W1 syndrome Identification I D . Donnai, J . Clayton Smith Workshop W6 cytogenetics M. Rocchi Workshop W3 Human Genome variability A. Metspalu Workshop W5 Quality control E . Dequeker Workshop W4 twin research D. Boomsma Workshop W2 community Genetics M. Cornel, U. Kristoffersson
Scientific Programme – Sunday, May 7, 2006
©2006 All rights reserved. Affymetrix, Inc. Affymetrix, the Affymetrix logo, and GeneChip are registered trademarks, and The Way Ahead is a trademark, of Affymetrix, Inc. Products may be covered by one or more of the following patents and/or sold under license from Oxford Gene Technology: U.S. Patent Nos. 5,445,934; 5,700,637; 5,744,305; 5,945,334; 6,054,270; 6,140,044; 6,261,776; 6,291,183; 6,346,413; 6,399,365; 6,420,169; 6,551,817; 6,610,482; 6,733,977; and EP 619 321; 373 203 and other U.S. or foreign patents. For research use only. Not for use in diagnostic procedures.
The Way Ahead™
Please join us at the
“Enabling Genome Discovery
Using Affymetrix GeneChip
®DNA Analysis Products”
Symposium on
7
thMay
13:00—14:30
Room P
Lunch will be provided
Visit us on booth #C132
We look forward to seeing you there!
210mm
1
time Auditorium Forum Room N-N1-O-O1 Room A
15.00 -16.30
concurrent session c1 Genetic analysis of complex disease i
Chair: C. van Duijn
concurrent session c2 clinical genetics i Chair: S. Lyonnet, A. Reis
concurrent session c3 Neurogenetics
Chair: D. Lindhout, P. Heutink
concurrent session c4 cancer genetics
Chair: R. Seruca, R. Hofstra
15.00 c04. A genome-wide SNP as-sociation study of rheumatoid arthritis (RA) validates the DNA pooling approach
J. S. Lanchbury, A. Gutin, V.
Abkev-ich, T. Merriman, S. Steer, K. Timms, T. Tran, D. Shattuck, M. Skolnick
c10. Acrolaryngeal dysplasia: a distinct autosomal dominant acromelic syndrome .
D. L. Rimoin, D. Krakow, W. Wilcox,
L. Ghizzoni, S. Braddock, S. Unger, A. Superti-Furga, G. Mortier, J. Hall, Y. Alaney, R. Lachman
c16*. Amisyn, SCAMP5, CLIC4 and NBEA are candidate genes for autism and suggest a role for neuron vesicle trafficking in the pathogenesis of autism .
D. Castermans, K. Freson, J.
Ver-meesch, C. Schrander-Stumpel, J. Fryns, W. Van de Ven, C. Van Geet, J. Steyaert, J. Creemers, K. Devriendt
c22*. Defective oxidative phos-phorylation in thyroid oncocyto-ma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III .
E. Bonora, G. Gasparre, A. Porcelli, A. Biondi, A. Ghelli, V. Carelli, A. Baracca, G. Tallini, A. Martinuzzi, G. Lenaz, M. Rugolo, G. Romeo
15.15 c05*. Copy Number Variation of NCF1 Gene is associated with Rheumatoid Arthritis but not with Psoriatic Arthritis
U. D. Hüffmeier, H. Burkhardt, C.
T. Thiel, J. Lascorz, M. Streiter, B. Böhm, R. Holmdahl, H. Schulze-Koops, A. Reis
c11. Achalasia, megacolon, skel-etal deformities associated with generalized angiodysplasia and severe growth retardation, low copper, ceruloplasmin and zinc levels in two distinct consanguin-eous families . A new autosomal recessive condition .
S. Balci, F. Atalay
c17. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in domi-nant intermediate Charcot-Marie-Tooth neuropathy
A. Jordanova, J. Irobi, F. P. Thomas,
P. Van Dijck, K. Meerschaert, M. Dewil, I. Dierick, A. Jacobs, E. De Vr-iendt, V. Guergueltcheva, C. V. Rao, I. Tournev, F. A. Gondim, M. D’Hooghe, V. Van Gerwen, P. Callaerts, L. Van Den Bosch, J. P. Timmermans, W. Robberecht, J. Gettemans, J. M. Thevelein, P. De Jonghe, I. Kremen-sky, V. Timmerman
c23*. Aggressive fibromatosis, pathways that cross-talk with Wnt signaling
S. Amini Nik, K. Van Dam, R.
PourE-brahim, H. Xavier Zambrano Man-rique, S. Tejpar, J. J. Cassiman
15.30 c06. Breaking loops for linkage analysis in complex pedigrees
T. I. Axenovich
c12*. Holoprosencephaly: clini-cal and genetic study about 340 patients (1996-2006)
L. Pasquier, C. Bendavid, C.
Du-bourg, S. Jaillard, I. Gicquel, C. Henry, V. David, S. Odent
c18*. Distinguishing neurode-generative disorders with tau pathology using mRNA expres-sion microarrays
I. F. Bronner, Z. Bochdanovits, P.
Rizzu, J. C. van Swieten, R. Ravid, W. Kamphorst, P. Heutink
c24*. Genome-wide analy-sis to unravel the molecular mechanisms behind vitamin D resistance
J. L. Costa, P. Eijk, M. Tijssen, J.
Narvaez, J. Welsh, B. Ylstra
15.45 c07*. Genome-wide screen for late onset Alzheimer’s disease in a complex pedigree from a ge-netically isolated population
F. Liu, A. Arias-Vásquez, Y. S.
Aulchenko, K. Sleegers, P. Sanchez-Juan, A. M. Bertoli-Avella, B. J. Feng, A. Isaacs, P. Heutink, C. van Broeck-hoven, B. A. Oostra, C. M. van Duijn
c13. FBN1 mutations in patients with incomplete Ghent criteria in a series of 1057 probands: Further delineation of type I fibril-linopathies
G. Collod-Beroud, A. Child, B. Calle-waert, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, A. Kiotsekoglou, C. Bonithon-Kopp, C. Beroud, M. Claustres, P. Comeglio, C. Muti, H. Plauchu, P. Robinson, L. Ades, J. De Backer, P. Coucke, U. Francke, A. De Paepe , C. Boileau, G. Jondeau,
L. Faivre
c19*. A mutation in the nup62 gene causes Infantile Bilateral Striatal Necrosis
L. Basel-Vanagaite, L. Muncher, R.
Straussberg, M. Pasmanik-Chor, M. Yahav, L. Rainshtein, C. A. Walsh, N. Magal, E. Taub, V. Drasinover, G. Rechavi, A. J. Simon, M. Shohat
c25. The major epigenetic ef-fect of the histone deacetylase inhibitor butyrate is a paradoxical decrease in promoter histone acetylation and decrease in gene activity .
A. Rada-Iglesias, A. Ameur, S. Enroth, C. Koch, N. Carter, D. Ve-trie, I. Dunham, J. Komorowski, C.
Wadelius
16.00 c08*. Genetic background of neurocognitive traits in schizo-phrenia and bipolar disorder - an association study in twins
O. P. H. Pietiläinen, T. Paunio, A.
Loukola, A. Tuulio-Henriksson, T. Kie-seppä, W. Hennah, J. A. Turunen, J. O. Peltonen, K. Silander, J. Lönnqvist, J. Kaprio, T. D. Cannon, L. Peltonen
c14. Non congenital paediatric Myotonic Dystrophy: clinical and genetic study in a series of 44 patients
D. Héron, A. Jacquette, S. Whalen,
A. Mallet, H. Radvanyi, N. Angeard, B. Eymard
c20. Impaired ganglioside syn-thesis involved with pathogenic mechanism in a familial form of multiple sclerosis
E. Vitale, C. Yildirim-Toruner, S.
Hu-sain, G. Toruner, M. Schwalb, S. Cook
c26. Birt-Hogg-Dube : A syn-drome the geneticist should know
C. D. DeLozier, T. Treisman, Y.
Chang, D. Tashjian, T. McCalmont, C. J. Curry
16.15 c09. Differential liabilities of cod-ing and non-codcod-ing mutations at a major locus in complex disease : RET in Hirschsprung disease J. Amiel, G. Antinolo, S. Borrego, G. Burzynski, I. Ceccherini, E. Emison, C. Eng, R. Fernandez, M. Garcia-Barcelo, P. Griseri, R. Hofstra, C. Kashuk, F. Lantieri, S. Lyonnet, P. Tam, A. Tullio-Pelet, K. West, A. Chakravarti
c15. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
S. Twigg, K. Matsumoto, A. Kidd, A. Goriely, I. Taylor, R. Fisher, J. Hoogeboom, I. Mathijssen, T. Lourenao, J. Morton, E. Sweeney, L. Wilson, H. Brunner, J. Mulliken, S. Wall, A. Wilkie
c21*. Transcriptional deregula-tion by the mutant Huntington Disease (HD) protein: implica-tions for pathogenesis S. Y. Cong, B. A. Pepers, R. A. C. Roos, G. J. B. van Ommen, J. C. Dorsman
c27*. Identification of meth-ylation and expression abnor-malities associated with breast cancer .
V. V. Strelnikov, E. B. Kuznetsova,
M. V. Nemtsova, D. V. Zaletayev
16.30 Coffee / Poster Viewing / Exhibiton
1
time Auditorium Forum Room N-N1-O-O1 Room A
17.00 -18.30
symposium s4
Genetics of sense organs Chair: P. Gasparini, F. Baas
symposium s5
infectious diseases: Genetics matters!
Chair: M. Macek Jr.
symposium s6
chromosomal segregation Chair: M. Rocchi, T. Frébourg
symposium s7
Autonomy in decision making (with EMPAG)
Chair: G .Evers-Kiebooms, S . Aymé
17.00 s10. Taste Genetics: Insights in Individual Taste Worlds with Implications for Diet and Health
B. Tepper
s13. Genetic control of infectious disease in humans
A. Hill
s16. Constitutional aneuploidy and cancer predisposition
N. Rahman
s19. Cascade screening: whose information is it anyway?
G. de Wert
17.30 s11. Genetics of smell
D. Lancet
s14. Mice, microbes and models of infection
R. Balling
s17. Spindle checkpoint proteins and their multiple roles in regulat-ing chromosome segregation
C. E. Sunkel
s20. Autonomy and prenatal test-ing decisions
E. Dormandy, T. Marteau
18.00 s12. Genetics of pain perception
A. Dahan
s15. From idiopathic infectious diseases to novel primary immu-nodeficiencies
J. L. Casanova
s18. Regulating mitosis by pro-teolysis
J. Pines
s21. Shared decision making in clinical genetics .
A. Lucassen
18.45 19.30
EsHG membership meeting
1
time Auditorium 08.45 -10.15 Plenary P3Pathogenesis of human genetic disease Chair: J. Kere, J.L. Mandel
08.45 PL5. Genetic Causes of Vascular Malformations
M. Vikkula
09.15 PL6. Huntington’s disease: molecular patho-genesis and therapeutic approaches
G. Bates
09.45 PL7. Systems biology approaches for the study of aging and age-related diseases
R. Baumeister
10.15 -10.45
Coffee Break / Poster viewing / Exhibition
10.45 -11.15
Free Poster viewing / Exhibition
11.15 -12.15
Poster viewing with presenters (even poster numbers) 12.15
-13.15
Lunch / Poster viewing / Exhibition
time Auditorium Forum Room N-N1-O-O1 Room A Room B Room L
13.15 -14.45 Workshop W7 syndrome Identification II D . Donnai, J . Clayton-Smith Workshop W9 Noninvasive prena-tal diagnosis M. Hulten, D. Lo, A. Szczepura Workshop W8. Genetic education D. Coviello, L. ten Kate Workshop W10 History of Genetics T. Pieters Workshop W11 EU projects work-shop J.J. Cassiman EmPAG joint Workshop W12 challenging ge-netic counselling case discussion L. Kerzin-Storrar, T. Clancy
Scientific Programme – Monday, May 8, 2006
2006 marks the 25th Anniversary of Applied Biosystems
What started out as a breakthrough in automated protein sequencing 25 years ago has led to a series of innovations that has catalyzed a revolution in life sciences. Here’s to 25 years of scientifi c achievement – and the breakthroughs yet to come.
DNA/RNA sample prep Solutions for every need – now including Ambion®
products
Gene expression Whole genome, single gene, microRNA, high sensitivity
Real-Time PCR Industry standard instruments, supporting all formats – 96, 384, Fast, TaqMan® Low
Density Array
DNA sequencing Versatile platforms for Sequencing and Genetic Analysis – de novo, resequencing, mutation screening, methylation analysis Genotyping Candidate gene/ candidate region, linkage, resequencing, DME assays
Applera Corporation consists of the Applied Biosystems and Celera Genomics businesses. Applied Biosystems is a registered trademark and AB (Design), Applera are trademarks of Applera Corporation or its subsidiaries in the U.S. and/or certain other countries. TaqMan is a registered trademark of Roche Molecular Systems, Inc. © 2006 Applied Biosystems. All rights reserved.
Come and join our free lunch seminar on:
”Accelerating Discovery in Human Disease
Research: An Inside Look at the Leading Edge
in Genomics Research”
16
time Auditorium Forum Room N-N1-O-O1 Room A Room B
15.00 -16.30 concurrent session c5 Genetic analysis of complex disease ii Chair: J . Kere, C . Wijmenga
concurrent session c6 clinical genetics ii Chair: A . Reis, T . Frébourg
concurrent session c7 molecular mechanisms of disease
Chair: P. Gasparini, H. van Bokhoven
concurrent session c8 Prenatal and preimplantation diagnosis
Chair: J. Geraedts, N. Leschot
concurrent session c9 therapy for genetic disease
Chair: G.J.B. van Ommen, B. Wirth 15.00 c28. Loci of shared
seg-mental aneuploidy in the genomes of healthy and mentally retarded subjects detected by Array-CGH
M. Poot, M. J. Eleveld, R.
Hochstenbach, H. K. Ploos van Amstel
c34. Genotype- Phenotype cor-relation in Patients with Short stature: Clinical indicators of SHOX Haploinsufficiency
G. Rappold, W.F. Blum, B.J. Crowe, R.
Roeth, E.P. Shavrikova, C. Quigley, J.L. Ross, B. Niesler
c40. Transcriptome plas-ticity through RNA editing
S. Maas, A. Athanasiadis, R.
Kaushal, N. J. Vendetti
c46. Non invasive screening and rapid QF-PCR assay could reduce the need of conven-tional cytogenetic analyses in prenatal diagnosis
V. Cirigliano, G. Voglino, M.
Adinolfi
c52. Evidence of in vivo increase of SMN RNA and protein in SMA carri-ers and patients treated with valproic acid
L. Brichta, I. Hölker, K. Haug, T. Klockgether, B.
Wirth
15.15 c29*. Distribution of recur-rent copy number variations in different ethnic popula-tions
L.E.L.M. Vissers, S.J. White,
A. Geurts van Kessel, E. Kalay, A.E. Lehesjoki, P.C. Giordano, E. van de Vosse, M.H. Breun-ing, H.G. Brunner, J.T. den Dunnen, J.A. Veltman
c35*. PTEN Related Disorders - a national clinical study in the UK
K. L. Lachlan, D. J. Bunyan, I. K. Temple
c41*. Life without sulfa-tases: exploiting a mouse model of multiple sulfatase deficiency
C. Settembre, I. Annunziata,
G. Cobellis, M. Sardiello, A. Ballabio
c47*. Chromosomal mosa-icism, DNA methylation and embryolethality: a possible link between cytogenetic and epigenetic factors in the etiol-ogy of embryo aneuploidy
I.N. Lebedev, E.N. Tolmacheva,
E.A. Sazhenova, A.A. Kashevarova
c53. Valproic acid stimulates ABCD2 gene expression: a novel potential therapy for X-adrenoleukodystrophy
A. Pujol, S. Fourcade, L.
Brichta, E. Hahnen, P. Au-bourg, B. Wirth, J. Mandel
15.30 c30*. Systematic prediction of the boundaries of large copy number variants in the human genome
J. O. Korbel, A. E. Urban, S.
M. Weissman, M. Snyder, M. B. Gerstein
c36*. Pattern of p63 mutations and their phenotypes in human ectoder-mal dysplasia syndromes
T. Rinne, B. C. Hamel, R. Meijer, H.
Scheffer, H. van Bokhoven, H. G. Brunner
c42. Altered activity of AP-1 transcription factor com-ponents in cystic kidneys of humans and mouse models for Autosomal Dominant Polycystic Kidney Disease .
I. S. Lantinga-van Leeuwen, N. H. Le, A. van der Wal, W. N. Leonhard, H. van Dam, E. de Heer, M. H. Breuning, D. J.
M. Peters
c48. Ten years of a programme
for presymptomatic testing and prenatal diagnosis in late-onset neurological diseases in Portugal: Machado-Joseph disease, Huntington disease and familial amyloid neuropathy type I-ATTRV30M
J. Sequeiros, J. Pinto-Basto,
T. Coelho, J.C. Rocha, S. Lêdo, Â. Leite, L. Rolim, M. Branco, S. Albuquerque, M. Paneque, S.W. Sequeiros, M. Marta, P. Valente, C. Barbot, A. Lopes, J.L. Loureiro, M. Fleming
c54. Pharmacologic Chaperone AT2101 Improves the Trafficking and Activity of Acid-ß-Glucosidase in Gaucher Fibroblasts
S. Kornfeld, B. Wustman
15.45 c31*. Identification of haplotypes in the human Foxo1a and Foxo3a genes influencing disease at old age and lifespan
M. Kuningas, S. P. Mooijaart,
P. E. Slagboom, R. G. J. West-endorp, D. van Heemst
c37*. Haploinsufficiency of the
Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome .
T. Kleefstra, A.R. Oudakker, W.M.
Nillesen, M.H.A. Ruiterkamp-Versteeg, D.A. Koolen, A. Magee, G. Gillessen-Kaesbach, H. van Esch, J. Fryns, B.C.J. Hamel, E.A. Sistermans, H.G. Brunner, B.B.A. de Vries, H. van Bokhoven
c43. The mutation in the Renin Receptor (ATP6A2) associated with XMRE (X-linked MR-epilepsy) significantly reduces ERK 1/2 activation by NGF in neurites
J. Walker, K. J. Franek, C. E. Schwartz
c49. Single-cell chromosomal imbalances detection by array CGH
C. Le Caignec, C. Spits, K.
Ser-mon, M. De Rycke, B. Thienpont, Y. Moreau, J. P. Fryns, A. Van Steirteghem, I. Liebaers, J. R. Vermeesch
c55*. Intrabody-based therapy for protein aggregation disorders: OPMD as paradigm
P. Verheesen, A. de
Kluijver, S. van Konings-bruggen, H. de Haard, G. J. van Ommen, T. Verrips, S. M. van der Maarel
16.00 c32. Identification and Functional Analysis of CITED2 Mutations in Patients with Congenital Heart Defects
S. Hammer, C. H. Grimm, I. Dunkel, S. Mebus, H. Sperling, A. Ebner, R. Galli, H. Leh-rach, C. Fusch, F. Berger, S.
Sperling
c38. Duplications of the MECP2 region are commonly found in a specific subset of MR patients; towards a detailed genotype-pheno-type correlation
M. Bauters, H. Van Esch, M. Friez, O. Boespflug-Tanguy, M. Raynaud, A. M. Vianna-Morgante, J. Ignatius, M. Zenker, K. Vandenreijt, P. Blanc, C. Moraine, R. Stevenson, P. Marynen, J. Fryns, C. Schwartz, G. Froyen
c44. Mutant Connexin 26 Enhances Epidermal Wound Healing and Inhibits Bacterial Invasion
Y. K. S. Man, C. Trolove,
A. Thomas, A. Papakon-stantinopoulou, D. Patel, H. Navsaria, E. A. O’Toole, M. A. Curtis, D. P. Kelsell
c50. Whole genome amplifica-tion with haplotype analysis - a novel approach to preimplanta-tion genetic diagnosis (PGD) for a wide range of diseases .
P. J. Renwick, J. Trussler, H.
Fas-sihi, P. Braude, C. Mackie Ogilvie, S. Abbs
c56. Advances in exon
skipping trial development towards proof-of-concept and systemic application in Duchenne Muscular Dystrophy
J.T.C. van Deutekom, H.
Heemskerk, C. de Winter, P. van Kuik, S. de Kimpe, G. Platenburg, G. J. B. van Ommen
16.15 c33. Mutations in
Desmoglein-2 gene are asso-ciated to arrhythmogenic right ventricular cardiomyopathy
K. Pillichou, G. Beffagna, A. Nava, C. Basso, B. Bauce, A. Lorenzon, A. Vettori, J. Towbin, G. Thiene, G. A. Danieli, A. Rampazzo
c39. Glyc-O-Genetics of Walker-Warburg Syndrome and related disorders
J. van Reeuwijk, S. Maugenre, C. van den Elzen, A. Verrips, E. Bertini, F. Muntoni, L. Merlini, H. Scheffer, H. G. Brunner, P. Guicheney, H. van Bokhoven
c45*. Gene expression profiling reveals a new mo-lecular pathway involved in Oculopharyngeal Muscular Dystrophy
E. Sterrenburg, S.J.E. Routledge, B.M. van der Sluijs, B.G. van Engelen, M. Antoniou, S.M. van der Maarel
c51. Preimplantation genetic diagnosis for HLA compatible and disease free embryos: Single center experience .
E. Altıok, F. Taylan, S. Yüksel, C.
Demirel, E. Dönmez, I. Ünsal, G. Demirkeser
c57*. Clinical burden and penetrance of haemochromatosis: estimates derived from routine data C. Patch, H. Yuen, P. Roderick, W. Rosenberg
16.30 Coffee / Poster Viewing / Exhibiton
1
time Auditorium Forum Room N-N1-O-O1 Room A
17.00 -18.30
symposium s8. Recent ad-vances in neurogenetics Chair: B. Oostra, A. Bergen
symposium s9. Aneuploidy Chair: H. G. Brunner, M. Breuning
symposium s10. comparative genomics
Chair: M. Rocchi, J. den Dunnen
symposium s11. towards measuring quality of genetic counselling (with EMPAG) Chair: L. Kerzin-Storrar, H. Kääriäinen
17.00 s22. Age-related Macula degen-eration
C. Klaver
s25. Segmental Duplication and Human Genome Variation
E. E. Eichler
s28. Vertebrate chromosome evolution since our last common ancestor
H. Roest Crollius
s31. Separating means from ends: turning back to the goals of genetic counseling
S. Shiloh
17.30 s23. Parkinson disease and LRRK2
T. Gasser
s26. Deconstructing deletion syndromes: new techniques and old karyotypes
C. van Ravenswaaij-Arts
s28. Probing the genetic basis of human brain evolution
B. Lahn
s32. Listening to consumers in genetic healthcare - an audit tool to support measurement of outcomes
H. Skirton
18.00 s24. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy A . Rovelet-Lecrux, D .
Hannequin, G . Raux, N . Le Meur, A . Laquerrière, A . Vital, C . Dumanchin, S . Feuillette, A . Brice, M . Verceletto, F . Dubas, D . Campion, t. Frébourg
s27. Segmental Duplications in 22q11 Mediate Deletions, Translocations and Genomic Instability
B. Emanuel
s30. The complexity of human genes
R. Guigo, and the ENCODE
(ENCy-clopedia Of Dna Elements Project Consortium) Genes & Transcripts Analysis Group
s33. What works, and why, in Genetic Counselling? The need for theory
S. Michie
20.00 Congress Party at the NEMO Science Center
Scientific Programme – Monday, May 8, 2006
Integrated Solutions — Whole Genome Amplification
Improvements in Multiple Displacement amplification (MDA) to
overcome limited amounts of genomic DNA for genetic analysis
Satellite meeting:
Monday, 8 May, 13.00–14.30 Room P
Get more from your samples using QIAGEN's REPLI-g®whole genome amplification technology! REPLI-g amplified DNA can directly be used in all downstream genetic analysis techniques, including SNP and STR genotyping.
Come to our satellite meeting to discover the latest developments for genotyping analysis. We will discuss QIAGEN’s REPLI-g tech-nology, which utilizes Multiple Displacement Amplification (MDA) to replicate genomic DNA.
Refreshments will be served.
W W W . Q I A G E N . C O M
For more information visit
www.qiagen.com/events/EHGC2006
Trademarks: QIAGEN®, REPLI-g®(QIAGEN). QIAGEN REPLI-g Kits are for use only
as licensed by Amersham Biosciences Corp (part of GE Healthcare Bio-Sciences) and QIAGEN GmbH. The Phi 29 DNA polymerase may not be re-sold or used except in conjunction with the other components of this kit. See U.S. Patent Nos. 5,854,033, 6,124,120, 6,143,495, 5,001,050, 5,198,543, 5,576,204, and related U.S. and foreign patents. The PCR process is covered by the foreign counterparts of U.S. Patents Nos. 4,683,202 and 4,683,195 owned by F. Hoffmann-La Roche Ltd. The REPLI-g Kit is developed, designed, and sold for research purpose only. 05/2006 © 2006 QIAGEN, all rights reserved.
1
time Auditorium Forum Room N-N1-O-O1
08.45 -10.15
symposium s12. Genetics based cancer treatment
Chair: R. Seruca, A. Geurts van Kessel
symposium s13. Genetics of speech, reading, writing
Chair: P. Gasparini, J. Kere
symposium s14. Heart disease – congeni-tal and developmencongeni-tal
Chair: S. Lyonnet, B. Smeets 08.45 s34. Targeting the DNA repair defects in
tumours
A. Ashworth
s37. On genes speech and language
S. Fisher
s40. New insights into molecular genetics of ARVC
B. Gerull
09.15 s35. Exploring the role Wnt/β-catenin signal-ing in intestinal and mammary cancer stem-ness
C. Gaspar, P. Franken, C. Breukel, L. Molenaar, R. Smits, M. van der Valk, R. Fodde
s38. Molecular, cellular, and circuit mecha-nisms underlying the storage of remote memories in cortical networks
A. J. Silva
s41. The role of Tbx1 in DiGeorge syndrome
A. Baldini, Z. Zhang, L. Chen, F. Vitelli, E. A.
Lindsay
09.45 s36. Interference with signal transduction events emanating from the ErbB2 receptor sensitizes breast cancer cells to taxol in-duced cell death
B. Groner, C. Borghouts, C. Kunz
s39. Dyslexia
G. Schulte-Körne
s42. Concepts of cardiac development
A. Moorman
10.15 -10.45
Coffee / Poster Viewing / Exhibiton
Scientific Programme – Tuesday, May 9, 2006
Monday May th, hrs 11:1—1:, lunch box will be provided
Room M
Satellite symposium on :
X-linked lysosomal storage disorders: Hunter Syndrome and Fabry disease
Chairman: Professor Jean-Jacques Cassiman
Phenotypic expression in X-linked lysosomal storage disorders
Professor Michael Beck
Fabry – a disease in disguise
Dr Olivier Lidove
Enzyme replacement therapy in Hunter syndrome
Dr Ed Wraith
1
time Auditorium Forum Room N-N1-O-O1 Room A
10.45 -12.15
concurrent session c10 Genetic analysis of complex disease iii
Chair: A . Reis
concurrent session c11 clinical and molecular cytogenetics
Chair: M . Rocchi, D . Smeets
concurrent session c12 molecular dysmorphology Chair: T . Frébourg, S . Lyonnet
concurrent session c13 Genomics, technology Chair: B . Wirth, G .J .B van Ommen
10.45 c58. Preference for sweet foods is partially genetically determined; a Finnish family study
K. Keskitalo, A. Knaapila, M. Kallela, A.
Palotie, M. Wessman, S. Sammalisto, L. Peltonen, H. Tuorila, M. Perola
c64*. Distinctive white matter abnormalities on MRI in patients with 6p deletion syndrome
S. A. J. Lesnik Oberstein, M. Kriek, K.
Szuhai, A. van Haeringen, J. van der Smagt, K. B. M. Hansson, M. H. Breun-ing, M. S. van der Knaap
c70. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation disrupting ER-to-Golgi trafficking
S. A. Boyadjiev, J. Fromme, C. Nauta,
W. Eyaid, R. Schekman, L. Orci
c76. Identification of DNA meth-ylation markers for detection and classification of colon cancer by epigenetic profiling
E. H. van Roon, M. van Puijenbroek, H. Morreau, J. M. Boer
11.00 c59. A common genetic variant 10 kb upstream of INSIG2 is as-sociated with adult and childhood obesity
A . Herbert, N . P . Gerry, M . B . McQueen, I . M . Heid, A . Pfeufer, t. illig, H . E . Wichmann, T . Meitinger, D . Hunter, F . B . Hu, G . Colditz, A . Hinney, J . Hebebrand, K . Koberwitz, X . Zhu, R . Cooper, K . Ardlie, H . Lyon, J . N . Hirschhorn, N . M . Laird, M . E . Lenburg, C . Lange, M . F . Christman
c65*. Array-CGH: A novel tool in genetic diagnosis of individuals with congenital heart defects
B. thienpont, L . Mertens, B . Eyskens, D . Boshoff, N . Maas, T . de Ravel, J . Fryns, M . Gewillig, J . R . Vermeesch, K . Devriendt
c71*. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome U. m. smith, S . Pasha, S . M . Sharif, P . A . Batman, C . P . Bennett, C . Woods, C . McKeown, P . Cox, T . Attie-Bitach, C . A . Johnson
c77*. Identification of regulatory Conserved Non-Coding sequences (CNCs) using the chicken genome and chicken embryos
c. Attanasio, F . Chiodini, C . Wyss, J . M . Matter, S . E . Antonarakis
11.15 c60*. Genetic variants of RANTES are associated with protection for Type 1 Diabetes
A. Zhernakova, B. Z. Alizadeh, P.
Ee-rligh, G. Valdigem, P. Hanifi-Moghaddam, N. C. Schloot, B. Diosdado, C. Wijmen-ga, B. O. Roep, B. P. C. Koeleman
c66. Molecular cytogenetic (re-) examinations of struc-tural chromosome aberrations within the ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations) project reveals surprising results m. Riegel, A . Schinzel
c72. Germline mutations of proto-oncogenes in the RAS-RAF-ERK pathway cause Costello syndrome and cardio-facio-cutaneous (CFC) syndrome
Y. Aoki, T . Niihori, Y . Narumi, H . Kawame, K . Kurosawa, H . Ohashi, M . Filocamo, G . Neri, H . Cavé, A . Verloes, N . Okamoto, R . C . M . Hennekam, G . Gillessen-Kaesbach, D . Wieczorek, M . I . Kavamura, L . Wilson, S . Kure, Y . Matsubara
c78. Genome-wide copy number profiling on high density BAC, SNP and oligonucleotide microarrays: A platform comparison
J. A. Veltman, J . Y . Hehir-Kwa, M . Egmont-Petersen, I . M . Janssen, D . Smeets, A . Geurts van Kessel
11.30 c61*. Screening and replication using the same data set: A testing strategy for case/control studies M . B . McQueen, J . Su, A . Murphy, K . Schneiter, N . M . Laird, S . T . Weiss, c. Lange
c67*. Targeted cloning of fragile sites - based on a previous tagging of fragile regions in a breast cancer cell line
A. Fechter, E . Kuehnel, I . Buettel, L . Savelyeva, M . Schwab
c73. Mutations in different compo-nents of FGF-signalling in LADD syndrome
B. Wollnik, H . G . Brunner, H . Kayserili, O . Uyguner, G . Nürnberg, E . D . Lew, A . Dobbie, V . P . Eswarakumar, A . Uzumcu, M . Ulubil-Emeroglu, J . G . Leroy, Y . Li, C . Becker, K . Lehnerdt, C . W . Cremers, M . Yuksel-Apak, P . Nürnberg, C . Kubisch, J . Schlessinger, H . van Bokhoven, E . Rohmann
c79. Detection of copy number changes in patients with mental retardation using high density SNP microarrays
J. Wagenstaller, S . Spranger, B . Heye, B . Kazmierczak, M . Cohen, P . Freisinger, T . Meitinger, M . Speicher, T . M . Strom
11.45 c62*. Will systematic association studies of anonymous SNPs suc-ceed where linkage studies failed? J. K. Pickrell, F . Clerget-Darpoux, C . Bourgain
c68. Genome wide tiling path array CGH analysis in a diagnostic set-ting . A three-year experience N. de Leeuw, R . Pfundt, D . Koolen, E . Sistermans, W . Nillesen, M . Egmont-Petersen, J . Veltman, A . Geurts van Kessel, B . de Vries, D . Smeets
c74. Further evidence and function-al proof of the pathogenic relevance of TBX1 missense mutations A. Rauch, C . Zweier, C . Campbell, H . Sticht
c80. Annotation of the protein-cod-ing genes in the ENCODE regions A. Reymond, F . Denoeud, J . Harrow, C . Ucla, A . Frankish, R . Castelo, C . Wyss, J . Drenkow, J . Lagarde, T . Hubbard, T . R . Gingeras, S . E . Antonarakis, R . Guigo, P . Kapranov
12.00 c63*. Quantitative mapping of loci influencing susceptibility to lentiviral infection .
s. Deutsch, C . Loeuillet, M . Munoz, M . Gagnebin, J . Wyniger, H . Attar, J . S . Beckmann, S . E . Antonarakis, A . Telenti
c69*. Subtelomeric imbalances in phenotypically normal individuals i. G. Balikova, T . de Ravel, C . Le Caignec, B . Thienpont, B . Menten, F . Speleman, K . Devriendt, J . P . Fryns, J . R . Vermeesch
c75. Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice
C . Kappeler, Y . Saillour, J . Baudouin, F . Phan Dinh Tuy, C . Alvarez, C . Houbron, P . Gaspar, G . Hamard, J . Chelly, C . Metin, F. Francis
c81*. Island of euchromatic-like se-quence and expressed genes within the short arm of HSA21: sequence and copy number variability .
P. Prandini, R. Lyle, K. Osoegawa, B. ten
Hallers, S. Humphray, B. Zhu, E. Eyras, R. Castelo, C. Bird, M. Cruts, C. Ucla, C. Gehrig, S. Dahoun, X. She, C. van Broeckhoven, E. E. Eichler, R. Guigo, J. Rogers, P. J. de Jong, A. Reymond, S. E. Antonarakis
12.15 -13.15
Lunch / Poster Removal / Exhibiton
Scientific Programme – Tuesday, May 9, 2006
0
time Auditorium 13.15 -14.00 Plenary session P4 Nobel Laureate Lecture Chair: H . G . Brunner, J . Burn 13.15 -14.00 PL8. Humanity’s Genes S. Brenner 14.00 -15.30 Plenary session P5EsHG Award Lecture and Young investigator Awards
Chair: H . G . Brunner, J . Burn 14.00
-14.45
ESHG Young Investigator Award for Outstanding Science
Isabelle Oberlé Award Lodewijk Sandkuijl Award EJHG Awards
14.45 -15.30
PL9. Making eyes: lessons from ocular malfor-mations
V. van Heyningen
closing
Scientific Programme – Tuesday, May 9, 2006
Join Agilent Technologies for an informative workshop on cutting edge applications of chip-based genetic analysis Agilent Technologies is leading the way to faster and more automated, high throughput approaches to analyzing biomolecules using chip-based technologies, such as microarrays, microfluidics, and the HPLC-Chip. The seminar will focus on latest technology advancements and discuss practical genetic research applications of microarrays for gene expression analysis, microarray-based comparative genomic hybridization (aCGH) and Location Analysis (or ChIP on Chip).
Agilent Technologies Satellite Symposium
38th European Human Genetics Conference
Monday 8th May 2006, 11:15 – 12:45
Room: R+S (1st Floor Park Complex)
11:15 – 11:20 Welcome
11.20 – 11:45 Unleashing the Power of Genomics Research
Scott Cole, Marketing Manager, Genomics, Agilent Technologies, Santa Clara, CA
11.45 – 12:15 When the diagnosis is elusive: the new cytogenetics frontiers
Professor Orsetta Zuffardi, Director of Medical Genetics Department, University of Pavia, Italy
12:15 – 12:45 Cancer genomics: a clue for the analysis of melanoma complexity
Professor Gilbert Lenoir, Director of Research, Institut Gustave Roussy, France
Panel Question & Answers Close & Refreshments
Program
Accelerating the Pace of Genomic Discoveries
using Chip-based Technologies
For further details, including presentation abstracts and on-line registration visit:
