WEDNESDAY 22 APRIL 2015 - Genetics and Cell Biology

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
GENOME ANALYSIS
(conference room 2)
11.00 - 11.15
11.15 - 11.30
11.30 - 11.45
11.45 - 12.00
Thomas Eggermann (Aachen)
Yasmijn van Herwaarden
Tessa van Dijk
Joyce Gietel-Habets
Simon Ardui
Maastricht UMC+
Welcome and Opening meeting
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
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
Coffee / Tea Break (Foyer)
14.45 - 15.00
15.00 - 15.15
15.15 - 15.30
15.30 - 15.45
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
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)
Nathalie Fieremans
Robbert Weren
Serdar Yavuzyigitoglu
Romy Mesman
Maarten Massink
KU Leuven
Radboudumc Nijmegen
Erasmus MC Rotterdam
LUMC Leiden
UMC Utrecht
17.15 - 17.30
Identification of intellectual disability genes in female patients with skewed X-inactivation
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
16
Genetics Retreat 2015
Christiane Nüsslein-Volhard
Tübingen, Germany
The development of colour patterns in fishes. Towards an understanding of the evolution of beauty
Social Evening (Boeren Kelder)
Genetics Retreat 2015
17
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
Joris Veltman (Nijmegen)
Daiane Hemerich
Robin Verjans
Mark Hazebroek
UMC Utrecht
Maastricht UMC+
Maastricht UMC+
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
MOLECULAR NEUROLOGY
(conference room 2)
09.30 - 09.45
09.45 - 10.00
10.00 - 10.15
10.15 - 10.30
10.30 - 10.45
Jo Vanoevelen (Maastricht) & Dorien Peters
(Leiden)
Roeland Vanhauwaert
Marijke Versteven
Kiliana Bekelaar
Liesbeth Zwarts
Ivo Eijkenboom
KU Leuven
KU Leuven
KU Leuven
KU Leuven
Maastricht UMC+
Generation of a novel Drosophila melanogaster Parkinson’s disease model
Agonistic sound stimulates Drosophila male- male aggression
Pharmacogenetics of lithium and valproate in Drosophila melanogaster
Glial Notch regulates Drosophila behavior by maintaining adult brain homeostasis
A read-out panel reflecting small fiber neuropathy in zebrafish
10.45 - 11.15
Coffee / Tea Break (Foyer)
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
Alexander Hoischen (Nijmegen) & Gerard te
Meerman (Groningen)
Hester Happé
Alessio Marcozzi
Mike Jeurissen
Mandy Steinbusch
Machteld Oud
LUMC Leiden
UMC Utrecht
Maastricht UMC+
Maastricht UMC+
Radboudumc Nijmegen
12.30 - 13.15
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
Endocrine-cerebro-osteodysplasia syndrome is a ciliary disorder
Lunch (Foyer)
DEBATE ACROSS BORDERS
(conference room 1)
Joep Geraedts (Maastricht), Guido de Wert
(Maastricht), Lidewij Henneman (Amsterdam),
Klaus Zerres (Aachen), Pascal Borry (Leuven)
13.15 - 15.15
Debate Genetics, Ethics & Societies
15.30 - 17.30
Jubilee Programme
18.00 - 20.00
Walking dinner / Pitches / Poster Margo Eijck-Vievermans (Foyer)
KEYNOTE LECTURE (Aula
Minor)
20.00 - 21.00
21.00 - 24.00
18
Genetics Retreat 2015
Johan Braeckman
Ghent University, Belgium
Why people are extremely gullible
Social Evening; drinks by Perkin Elmer (Verloren Zoon)
Genetics Retreat 2015
19
FRIDAY 24 APRIL 2015
until 08.30
Breakfast (Grote Eetzaal)
08.30 - 08.45
08.45 - 09.00
Peter Leegwater
Lambert Dorssers
Utrecht University
Erasmus MC Rotterdam
A nonsense mutation in stillborn Friesian horses with hydrocephalus classifies the disorder as muscular dystrophy-dystroglycanopathy
Deciphering malignant testicular germ cell cancer progression
GENES & ENVIRONMENT
(conference room 2)
09.00 - 09.15
09.15 - 09.30
09.30 - 09.45
09.45 - 10.00
Colin Logie (Nijmegen) & Dineke Verbeek
(Groningen)
Jolien Vanhove
Xiaoqing Zhu
Zuzanna Borek
Tom Houben
KU Leuven
Maastricht UMC+
UMC Groningen
Maastricht UMC+
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
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
Lunch (Grote Eetzaal)
13.30 - 13.45
20
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
Joep Geraedts
Genetics Retreat 2015
Maastricht UMC+
Award Ceremony
Genetics Retreat 2015
21

Download Report