2005 Prague - European Society of Human Genetics

Scientific Pogramme
16.15 *C06. Interphase FISH
mapping of translocation
breakpoints using
paraffin-embedded tissue:
Identification of a candidate
gene for phocomelia
L. Harewood*
C12. Homozygosity for a
dominant-negative type I
collagen mutation attenuates
the type IV OI phenotype
of the heterozygous
Brtl mouse: insight into
disease mechanism
A. Forlino, C. Bergwitz, T.
E. Uveges, K.M. Kozloff,
N. V. Kuznetsova, G.
Gronowicz, S.A. Goldstein,
S. Leikin, J.C. Marini
C18. Identification of a novel
locus for Hirschsprung
disease associated with
microcephaly, mental retardation
and polymicrogyria
A. S. Brooks, A. M. Bertoli-
Avella, G. M. Burzynski, J.
Osinga, J. A. Hurst, G. M.
S. Mancini, E. de Graaff, B.
A. Oostra, R. M. W. Hofstra
16.30 Coffee / Poster Viewing / Exhibiton
Sunday, May 8, 2005
C24. Development of antisense-induced
exon skipping
for clinical applications
in Duchenne Muscular
Dystrophy.
J. C. T. van Deutekom,
A. Aartsma-Rus, A. A. M.
Janson, C. L. de Winter,
R. C. J. Schotel, J. T. den
Dunnen, G. Platenburg,
GJ. B. van Ommen
Time Congress Hall Meeting Hall I Panorama Hall
17.00
-
18.30
Symposium S1
Systems biology
Chair: GJ van Ommen, L. Foretová
17.00 S01. Systems biology in cardiovascular disease
F. Cambien
17.30 S02. Bioinformatics of signalling pathways
R. Eils
18.00 S03. Integral Membrane Proteins and Visual
Defects
J. B. C. Findlay
18.45
-
20.00
18.45
-
19.30
19.30
-
20.30
Symposium S2
Kidney disease
Chair: H. Kääriäinen, R. Lukovska
S04. Lessons from rare disorders: The Bardet-
Biedl syndrome
P. L. Beales
S05. Nephronophthisis
C. Antignac
S06. Molecular basis of congenital nephrotic
syndrome
M. Zenker
Free Poster Viewing
ESHG Membership Meeting
IFHG Membership Meeting
Final Programme Satellite Symposium - Genzyme
Symposium S3
Mitochondria
Chair: P. Gasparini, V. Kučinskas
13
*C30. Co-localization on
human chromosome 1 of
susceptibility loci for Atopic
Dermatitis (ATOD2) and
Psoriasis (PSORS4)
C. Sinibaldi, E. Giardina,
M. Paradisi, A. Provini,
F. Nasorri, S. Chimenti,
G. Marulli, S. Nisticò, P.
Rossi, V. Moschese, L.
Chini, G. Girolomoni, G.
Novelli*
S07. Mitochondrial dysfunction in neurodegeneration
A. Suomalainen-Wartiovaara, A. Hakonen, P.
Luoma, S. Heiskanen, K. Peltola, H. Tyynismaa
S08. The assembly of OXPHOS complexes in
health and disease
L. Nijtmans
S09. Immunohistochemical tests for mitochondrial
dysfunction
R. Capaldi
ESHG 2005, 8 May, 11.15 – 12.45 hrs, Chamber Hall, Prague, Czech Republic
The importance of early diagnosis of genetic metabolic disorders
11.15 – 11.20 Introduction
Prof. J. Zeman, Charles University,
Department of Pediatrics, Prague, Czech Republic (Chairman)
11.20 – 11.45 Early diagnosis of MPS I and Fabry disease
Prof.dr. F. A. Wijburg, Academic Medical Centre, Department of Paediatrics,
Amsterdam, The Netherlands
11.45 – 12.10 Diagnostic strategies for lysosomal storage disorders
Prof. B. Winchester, Institute of Child Health,
Division of Biochemistry & Metabolism, London, United Kingdom
12.10 – 12.30 Enzyme replacement therapy in treatable lysosomal storage disorders
Dr. R. Desnick, Mount Sinai School of Medicine of New York University, Department of
Human Genetics, New York, USA
12.30 – 12. 40 Panel discussion
12.40 – 12.45 Summary and conclusions
Prof. J. Zeman