1. No category

WEDNESDAY 22 APRIL 2015
10.00 - 10.50
Registration and Welcome with Limburgse vlaai in Foyer
OPENING MEETING
(conference room 2)
10.50 - 11.00
Willem Voncken
Maastricht UMC+
Welcome and Opening meeting
GENOME ANALYSIS
(conference room 2)
11.00 - 11.15
11.15 - 11.30
11.30 - 11.45
11.45 - 12.00
Paul de Bakker (Utrecht) & Thomas
Eggermann (Aachen)
Yasmijn van Herwaarden
Tessa van Dijk
Joyce Gietel-Habets
Simon Ardui
Radboudumc Nijmegen
AMC Amsterdam
Maastricht UMC+
KU Leuven
WES provides novel insights regarding germline aberrations in a family with an autosomal dominant inherited serrated polyposis phenotype
Mosaic uniparental isodisomy of chromosome 15q in an atypical PCH patient
Motives, considerations and experiences with preimplantation genetic diagnosis
Single Molecule Sequencing of the FMR1 CGG Repeat
12.00 - 13.00
CLINICAL & TRANSLATIONAL
GENETICS (conference room
2)
13.00 - 13.15
13.15 - 13.30
13.30 - 13.45
13.45 - 14.00
14.00 - 14.15
Lunch (Foyer)
Frank Baas (Amsterdam) & Hilde Van Esch
(Leuven)
Bart Appelhof
Minh Nguyen
Tom Theunissen
Mirjam de Pagter
Sarah Hempenstall
AMC Amsterdam
Maastricht UMC+
Maastricht UMC+
UMC Utrecht
LUMC Leiden
14.15 - 14.45
14.45 - 15.00
15.00 - 15.15
15.15 - 15.30
15.30 - 15.45
Coffee / Tea Break (Foyer)
Daniel Kofink
Sietske Kevelam
Glen Monroe
Elke Mersy
UMC Utrecht
VU Amsterdam
UMC Utrecht
Maastricht UMC+
15.45 - 16.00
DISCOVERIES & FUNCTIONAL
METHODS (conference room
2)
16.00 - 16.15
16.15 - 16.30
16.30 - 16.45
16.45 - 17.00
17.00 - 17.15
WES in a cohort of PCH patient: a PCH7 candidate gene
Whole exome sequencing: discovering genetic causes of mitochondrial disorders
Unraveling the genetic and pathophysiological basis of mitochondrial disorders
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring
A novel assay for proteasomal activity as a marker of myogenic dysfunction
Loss of chromosome Y and carotid atherosclerosis severity in men
PLP1 mutations affecting PLP1/DM20 alternative splicing causes Hypomyelination of Early Myelinating Structures
Monocarboxylate Transporter 1 Deficiency and Ketone Utilization
Non-invasive detection of fetal sex by simultaneous amplification of Y chromosome DNA and trophoblast-specific RNA
Short Break
Joep Geraedts (Maastricht) & Annelies de
Klein (Rotterdam)
Peter Leegwater
Robbert Weren
Serdar Yavuzyigitoglu
Romy Mesman
Maarten Massink
UMC Utrecht
Radboudumc Nijmegen
Erasmus MC Rotterdam
LUMC Leiden
UMC Utrecht
17.15 - 17.30
A nonsense mutation in stillborn Friesian horses with hydrocephalus classifies the disorder as muscular dystrophy-dystroglycanopathy
Identification of a novel adenomatous polyposis and colorectal cancer predisposing gene
BAP1 correlates with metastasis in polyploid uveal melanoma
Functional analysis of variants of uncertain significance in BRCA2
Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes
Short Break
LECTURE, TIPS AND HINTS
(conference room 2)
For PhD students and young postdocs
17.30 - 18.00
Joris Veltman
Radboudumc Nijmegen
18.00 - 19.30
How to obtain grants in a competitive research environment?
Dinner (Grote Eetzaal)
KEYNOTE LECTURE (Aula
Minor)
19.30 - 20.30
20.30 - 24.00
Christiane Nüsslein-Volhard
Tübingen, Germany
The development of colour patterns in fishes. Towards an understanding of the evolution of beauty
Social Evening (Boeren Kelder)
THURSDAY 23 APRIL 2015
until 08.30
Breakfast (Grote Eetzaal)
CARDIOGENETICS &
MOLECULAR CARDIOLOGY
(conference room 2)
08.45 - 09.00
09.00 - 09.15
09.15 - 09.30
09.30 - 09.45
Dorien Peters (Leiden) & Joris Veltman
(Nijmegen)
MOLECULAR NEUROLOGY
(conference room 2)
09.45 - 10.00
10.00 - 10.15
10.15 - 10.30
10.30 - 10.45
Jo Vanoevelen (Maastricht)
Daiane Hemerich
Robin Verjans
Mark Hazebroek
Liesbeth Zwarts
Marijke Versteven
Kiliana Bekelaar
Roeland Vanhauwaert
Ivo Eijkenboom
UMC Utrecht
Maastricht UMC+
Maastricht UMC+
KU Leuven
Integrating data sources in druggability analysis of genes implicated in dilated cardiomyopathy
Identification of MicroRNAs Regulating Heart Failure: A Phenotypical High-Throughput Screening Approach
Genetics of Dilated cardiomyopathy
Glial Notch regulates Drosophila behavior by maintaining adult brain homeostasis
KU Leuven
KU Leuven
KU Leuven
Maastricht UMC+
Wnt signaling in Drosophila aggressive behavior
Pharmacogenetics of lithium and valproate in Drosophila melanogaster
Generation of a novel Drosophila melanogaster Parkinson’s disease model
A read-out panel reflecting small fiber neuropathy in zebrafish
10.45 - 11.15
DEVELOPMENTAL & CANCER
GENETICS (conference room
2)
11.15 - 11.30
11.30 - 11.45
11.45 - 12.00
12.00 - 12.15
12.15 - 12.30
12.30 - 12.45
Coffee / Tea Break (Foyer)
Alexander Hoischen (Nijmegen) & Gerard te
Meerman (Groningen)
Hester Happé
Alessio Marcozzi
Mike Jeurissen
Mandy Steinbusch
Lambert Dorssers
Machteld Oud
LUMC Leiden
UMC Utrecht
Maastricht UMC+
Maastricht UMC+
Erasmus MC Rotterdam
Radboudumc Nijmegen
12.45 - 13.45
Lunch (Foyer)
13.45 - 14.00
14.00 - 15.00
Catharina Scholtens
DEBATE ACROSS BORDERS
(conference room 1)
Joep Geraedts (Maastricht), Guido de Wert
(Maastricht), Lidewij Henneman
(Amsterdam), Klaus Zerres (Aachen), Pascal
Borry (Leuven)
15.00 - 16.00
Joep Geraedts
Rolduc
Introduction Jubilee related activity
Jubilee related activity
Maastricht UMC+
Debate Genetics, Ethics & Societies Part I
16.00 - 16.30
16.30 - 17.30
Gene inactivation at different ages in an inducible kidney specific Pkd1 Knockout model results in multiple models with different characteristics
Engineering chromosomal translocations using the CRISPR/Cas system
Hematopoietic overexpression of Cyp27a1 reduces hepatic inflammation independently of 27-hydroxycholesterol levels in LDL-r-/- mice.
The RMRP snoRNA and chondrogenic differentiation
Deciphering malignant testicular germ cell cancer progression.
Endocrine-cerebro-osteodysplasia syndrome is a ciliary disorder
Coffee / Tea Break (Foyer)
Joep Geraedts
Maastricht UMC+
18.00 - 19.30
Debate Genetics, Ethics & Societies Part II
Walking dinner (Foyer) & Elevator Pitches by Beckman Coulter, Perkin Elmer, Qiagen, Illumina, Eppendorf
KEYNOTE LECTURE (Aula
Minor)
19.30 - 20.30
20.30 - 24.00
Johan Braeckman
Ghent University, Belgium
Why people are extremely gullible?
Social Evening; drinks by Perkin Elmer (Verloren Zoon)
FRIDAY 24 APRIL 2015
until 09.00
GENES & ENVIRONMENT
(conference room 2)
09.00 - 09.15
09.15 - 09.30
09.30 - 09.45
09.45 - 10.00
Breakfast (Grote Eetzaal)
Colin Logie (Nijmegen) & Dineke Verbeek
(Groningen)
Jolien Vanhove
Xiaoqing Zhu
Zuzanna Borek
Tom Houben
KU Leuven
Maastricht UMC+
UMC Groningen
Maastricht UMC+
10.00 - 10.30
COMPLEX GENETICS
(conference room 2)
11.00 - 11.15
11.15 - 11.30
11.30 - 11.45
11.45 - 12.00
12.00 - 12.15
12.15 - 12.30
Coffee / Tea Break (Foyer)
Maurice Zeegers (Maastricht)
Nadia Roumans
Maria Magdalena Zorro
Ivan Brankovic
Martin Singer
Vasiliki Matzaraki
Jan Henk Dubbink
Maastricht UMC+
UMC Groningen
Maastricht UMC+
VU Amsterdam
UMC Groningen
VU Amsterdam
12.30 - 13.30
13.30 - 13.45
Active and repressive histone marking during stem cell-derived hepatocytes in vitro
Novel insights in AMPK function: AMPK-MKNK1 connection
Dynamic expression profile of lncRNA genes upon stimulation of human intestinal gluten-specific T-cells
Storage solutions: targeting disturbed lysosomes to improve hepatic inflammation
Sex-specific variation in extracellular matrix genes is associated with weight regain and maintenance after weight loss
Celiac disease associated genes are involved in intestinal barrier function
Do NOD1 and NOD2 functional polymorphisms influence susceptibility to Chlamydia trachomatis infection and the risk of tubal factor infertility?
Host genetic variation in innate immunity genes cause both protective and risk enhancing effects on the outcome of Haemophilius ducreyi infections
Systems approach to Candida infection
The role of polymorphisms on the susceptibility and clinical manifestations of sexual transmitted infections in South African women
Lunch (Grote Eetzaal)
Joep Geraedts
Maastricht UMC+
Award Ceremony