Programme   (draft)

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.

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_SanofiGenzyme-2018.jpg    logo_Sanbio-2018.bmp      logo_PacBio-2018.jpg     logo_moon-2018.png    logo_Macrogen-2018.jpg  logo_illumina-2018.jpg     logo_GCbiotech-2018.png        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
                           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