NVHG Najaarssymposium

donderdag 21 en vrijdag 22 september 2017

VKGL-logo.png VKGN logo.png NACG2.png

NH Eindhoven Conference Centre Koningshof

Locht 117, 5504 RM Veldhoven, Nederland

Downloads:  Program book (handed out on site)  /  Abstracts   (NVHG, only available electronically)  )  /  All abstracts   (VKGN, VKGL, NACGG, NVHG)

Thursday September 21, 2017

10.00     Registration (until 11.00 hrs. registration open)

10.30     Opening and Plenary session
                   10.30      Robert Green (Boston, USA) -  Persistent Questions and Surprising Answers on the Path to Genomic Medicine
                   11.10      Silvère van der Maarel (Leiden, NL)  -  Facioscapulohumeral muscular dystrophy
                   11.50      Alexandre Reymond (Lausanne, CH)  -  Genome architecture and disease: the 16p11.2 paradigm

12.30     Lunch, business/private meetings:  huishoudelijke vergadering VKGN en VKGL

14.00      Parallel sessions
              Symposium 1A:        VKGN    Program
                   14.00      Marleen Jansen (Groningen)  -  Individuals with combined visual and hearing loss  
                   14.30      Virginie Verhoeven (Rotterdam)  -  Polygenic visual disturbances
                   14.50      Rob Collin (Nijmegen)  -  Gene therapies in retinopathies
                   15.15      Marieke van Dooren (Rotterdam)  -  Clinical genetic approach of hearing loss
                   15.35      Wilko Grolman (Utrecht)  -  Cochlear implantates: state of the art

              Symposium 1B:        VKGL    Program
                   14.00      Ron van Schaik (Rotterdam, NL)  -  Pharmacogenetics in clinical care: a 15 year experience
                   14.40      Lisenka Vissers (Nijmegen, NL)  -  The concept of “one-genetic-test-fits-all-diseases”: a genetic and cost-effectiveness perspective
                   15.20      Ron Wanders (Amsterdam, NL)  -  Translational metabolism: key to the future of inherited metabolic diseases

              Symposium 1C:        NACGG    Program
                   14.00      Helger Yntema (Nijmegen) - Heranalyse van exoom sequencing data: wanneer en waarom?
                   14.30      Julia el Mecky (Groningen) - Ervaringen en perspectieven van patiënten en lab personeel met betrekking tot heranalyse en hercontact
                                                                           binnen de klinische genetica
                   14.50      Gea Beunders (Groningen) - Heroproepen van kinderen met verstandelijke beperking door nieuwe genetische technieken:
                                                                           evaluatie van een Amsterdamse pilot op haalbaarheid en perspectief van ouders
                   15.10      Gonneke Willemsen (Amsterdam) - Hercontact in onderzoek: een portal voor terugkoppeling van data aan deelnemers uit het
                                                                                     Nederlands Tweelingregister
                   15.40      Slotdiscussie en afsluiting

16.00      Coffee – tea break  and  poster viewing

17.30      Thijs Porck (Leiden, NL)  -  Medieval medicine and the human life cycle: Curing old age in medieval England

18:30      Drinks

19.00      Dinner

21.00      Party  (closed 00.30)

Our sponsors

Logo Stichting Simonsfonds.pngNVHG2017_logo-Sarstedt .jpg  BeckmanLogo.png   BD_logo.jpg  NVHG2017_logo-NimaGen.jpg    
NVHG2017_logo-BIOKE.jpgNVHG2017_logo-PacBio.pngSophiaGenetics_logo.jpgMetaSystemsProbes_logo.jpg  NVHG2017_logo-Promega.jpg

Friday September 22, 2017

09.00      Plenary session
                    09.00      Henk Jan Guchelaar (Leiden, NL)  -  Implementation of pharmacogenomics into clinical practice
                    09.40      Heleen Masset (Leuven, BE)  -  Combining time-lapse imaging and genome-wide haplotyping reveals novel mechanisms underlying
                                                                                chimerism, mixoploidy and aneuploidy formation in human preimplantation embryo

10.10      Parallel sessions
               Symposium 2A
                    10.10     Debby Hellebrekers (Maastricht, NL)  -  Next-generation sequencing of the mtDNA and exome is the preferred, first strategy to identify
                                                                                           known and novel causes of mitochondrial disease
                    10.25     Michal Mokry (Utrecht, NL)  -  Candidate gene identification based on 3D chromatin interactions: Genetics behind complex diseases just got
                                                                             even more complex
                    10.40     Chantal Deden (Nijmegen, NL)  -  A retrospective analysis of genetic testing in pediatric patients while introducing rapid targeted whole
                                                                                  genome sequencing for critically ill newborns
                    10.55     Laura Vandervore (Rotterdam/Brussel, NL/BE)  -  RTTN is located at the centrosomes during mitosis and regulates centriole duplication  
               Symposium 2B
                    10.10     Jakob Goldmann (Nijmegen, NL)  -  Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased
                                                                                     double-strand break incidence
                    10.25     Edith Coonen (Maastricht, NL)  -  Refining embryo transfer strategies using embryonic ploidy status in PGD for translocations
                    10.40     Matthew Hestand (Amsterdam, NL)  -  Fetal Fraction Evaluation in Non-Invasive Prenatal Testing (NIPT)
                    10.55     Martin Elferink (Utrecht, NL)  -  Defining quality standards for clinical whole exome sequencing: a national collaborative study of the Dutch
                                                                               Society for Clinical Genetic Laboratory Diagnostics (VKGL)

11.15      Coffee-tea break

11.45      Parallel sessions
               Symposium 3A
                    11.45     Magdalena Harakalova (Utrecht, NL)  -  Transcriptional regulation in hypertrophic cardiomyopathy due to MYBPC3 founder mutations
                    12.00     Jo Vanoevelen (Maastricht, NL)  -  Classification of lmna-variants by means of zebrafish phenotyping
                    12.15     Machteld Oud (Nijmegen, NL)  -  Ciliary phenotyping in urine-derived patient cells to determine the pathogenicity of novel variants in
                                                                                 ciliopathy genes
                    12.30     Peter-Bram ‘t Hoen (Leiden, NL)   -  RNAseq in 296 phased trios provides a high resolution map of genomic imprinting
               Symposium 3B
                    11.45     Bianca van den Bosch (Maastricht, NL)  -  Evolution of dihydropyrimidine dehydrogenase (DPD) diagnostics in a time-period of seven years
                    12.00     Claudia Ruivenkamp (Leiden, NL)  -  Towards automated sharing of genetic variants between genome diagnostics laboratories and beyond:
                                                                                      an initiative of the Dutch diagnostic data sharing consortium
                    12.15     Stefan Lelieveld (Nijmegen, NL)  -  De novo missense mutation clustering identifies candidate neurodevelopmental disorder genes
                    12.30     Rachel Schot (Rotterdam, NL)  -  SMPD4 mutations link primary microcephaly and severe encepahlopathy to aberrant cytokinesis and
                                                                                  membrane ceramide metabolism

12.45      Algemene ledenvergadering NVHG / Lunch and poster viewing

14.00      Plenary session
                    14.00     Joris Vermeesch (Leuven, BE)  -  The embryo is the cradle of chromosomal disorders
                    14.40     Erik Sistermans (Amsterdam, NL)  -  NIPT in the Netherlands
                    15.10     NVHG Lodewijk Sandkuyl lecture – Brenda Penninx (Amsterdam, NL)  - 

Genetics & psychiatry: how 1+1 can be 3
                    15.50     Awards: Annual Award, Poster Award

16:00               Close