NVHG symposium 2018

1 & 2 oktober

te Papendal

At the meeting a short printed program will be available. All other material (program book, abstracts) will be available in electronic format only. Click the link to download a copy:  program bookabstracts.

Monday October 1, 2018

10.00      Registration (open until 11.00)

10.30      Opening and Plenary session

  • 10.30-11.10     Mihai Netea (Nijmegen, NL)  -  Human Functional Genomics Project: understanding host defense heterogeneity
  • 11.15-11.45     winning Rolduc presentation 2018
                                  Mohamed Alimohamed (Groningen, NL)  -  DNA test for translocation detection in acute leukemias using targeted locus amplification
  • 11.50-12.30     Richard Scott (London, UK)  -  Lessons from the UK 100,000 Genomes Project

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

14.00      Parallel sessions

  • Symposium 1A:  VKGL (program)
    • 14.00    Marielle Alders  -  Towards genome wide methylation analysis as a diagnostic (functional) test
    • 14.35    Erik-Jan Dubbink  -  Classification of solid tumours using DNA methylation profiles
    • 15.10    Marianne Rots  -  Epigenetic editing
  • Symposium 1BExtremes   (VKGN & NACGG, program)
    • 14.00    Liesbeth van Rossum  -  Extremes in weight: Diagnostics of underlying causes and novel therapeutic solutions
    • 14.40    Bart Loeys  -  Extremes in growth: Fibrillin, TGFbeta and BMP at the balance of too short and too long
    • 15.20    André Uitterlinden  -  Extremes in the population

16.00      Coffee – tea break and poster viewing

17.30      Sjoerd Repping (Amsterdam, NL)  -  Current and future reproductive technologies: towards genetically perfect children for all?

18.30      Evening                 Drinks                 Dinner                 Party

Our sponsors:

logo_Roche-2018.JPG     logo_SophiaGenetics-2018.jpglogo_SanofiGenzyme-2018.jpg    logo_Sanbio-2018.bmp      logo_PacBio-2018.jpg     logo_Novogene-2018.png   logo_NimaGen-2018.jpg    logo_moon-2018.png    logo_Macrogen-2018.jpg  logo_illumina-2018.jpg       logo_Biotec-2018.jpg    NVHG2017_logo-BIOKE.jpg      logo_BioConnectDiag-2018.png    logo_BGI-2018.PNGlogo_Agilent-2018.png   Logo Stichting Simonsfonds_RGB.jpg

Tuesday October 2, 2018

08.30      Registration (open until 09.30)

08.45      Plenary session

  • 08.45-09.25     Stefan Mundlos (Charité, Germany)  -  Structural Variations, 3D Genome Organization and their Effect on Gene Regulation
  • 09.30-10.10     Karen Temple (Southampton, UK) - Imprinting disorders; new phenotypes and new mechanisms

10.20      Parallel sessions

  • Symposium 2A:   Diagnostic yield of NGS-based testing
    • Kristin Abbott (UMCG)  -  NGS expanded carrier screening in the Netherlands: initial implementation results
    • Jeroen Meekels (MUMC)  - Development of an innovative method for comprehensive preimplantation genetic testing
    • Cleo van Diemen (UMCG)  -  Rapid whole exome sequencing as a diagnostic test for fetal multiple congenital anomalies on ultrasound
    • Lotte Kleinendorst (AMC)  -  Genetic causes of obesity: diagnostic yield of 18% in a tertiary pediatric obesity cohort
  • Symposium 2B:   Prioritization and functional follow-up of variants of unknown significance
    • Laurens van de Wiel (RadboudUMC)  -  Aggregation of population-based genetic variation over protein domain homologues via MetaDome strongly improves diagnostic prediction of missense variants
    • Romy Mesman (LUMC)  -  Functional characterization of variants of uncertain significance in BRCA2: Fifty shades of BRCA2 deficiency
    • Rick Boonen (LUMC)  -  Functional Analysis of PALB2 Genetic Variants that Associate with Breast Cancer
    • Britt Mossink (RadboudUMC)  -  The molecular convergence of Kleefstra Syndrome Spectrum

11.20      Coffee-tea break

11.45      Parallel sessions

  • Symposium 3A:   Genotype-Phenotype correlations and the impact of environment
    • Lisenka Vissers (RadboudUMC)  -  De novo mutations in CNOT1, a master regulator of gene expression on DNA, RNA, and protein level, cause neurodevelopmental delay
    • Els Vanhoutte (MUMC)  -  Filamin-C: genotype-phenotype correlation in patients with cardiomyopathy and/or myopathy
    • Marian Weterman (LUMC)  -  Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
    • Jakob Goldman (RadboudUMC)  -  Analysis of sibling pairs’ de novo mutations suggests limited influence of environmental and familial factors to germline mutation rate
  • Symposium 3B:   Towards personalized treatment of genetic disease
    • Rosanne Ausems (RadboudUMC)  -  The Use of Pericytes in a Novel Cell-based Strategy for Correcting the Muscular Phenotype in Myotonic Dystrophy type I
    • Lise van Wijk (LUMC)  -  Functional analysis of BRCAness in female cancers: translation to clinical applications
    • Inge Lakeman (LUMC)  -  Addition of a 161-SNP Polygenic Risk Score to family history-based risk prediction: impact on clinical management recommendations in non-BRCA1/2 breast cancer families
    • Eline van Hugte (RadboudUMC)  -  Towards personalized treatment of genetically classified refractory epilepsies using Human Induced Pluripotent Stem Cells (hIPSCs) as an ex-vivo tool

12.45      Algemene ledenvergadering NVHG / lunch and poster viewing

14.00      Plenary session

  • 14.00-14.40     Edwin Cuppen (Utrecht, NL)  -  National scale tumor whole genome sequencing for personalized cancer treatment in the Netherlands
  • 14.40-15.20     Giuseppe Testa (Milan, IT)  -  Chasing the molecular logic of neurodevelopmental disorders: insights from patient-specific models at single cell resolution
  • 15.20-16.00     NVHG Galjaard lecture  ( history )
                           Nine Knoers (Groningen, NL) - Towards the Genetics Clinic of the Future: from
    genetics in kidney diseases to genetics at the heart of healthcare

16.00      Awards:

16.15      Close