October 22 & 23, 2015 GranT Talents in Genetics The NVHG Two-Day Autumn Symposium 2014 - Dutch Society of Human Genetics Nederlandse Vereniging voor Humane Genetica (www.nvhg-nav.nl) Program Thursday October 22, 2015 10:00-10:30 Registration (open until 11.00 hrs) 10.30-12.30 Opening & Plenary session Chair: Frank Baas 10.30-10.40 Opening 10.40-11.20 Joost Gribnau (ErasmusMC, Rotterdam) (G 01) Activation of X Inactivation 11.20-11.40 Eveline Verhulst (NWO Veni postdoctoral fellow, Wageningen University) (G 02) Sex determination in Hymenoptera: the road after doublesex 11.40-12.00 Diederik van de Beek (AMC, Department of Neurology,,Amsterdam) 12.00-12.20 Riekelt Houtkooper (AMC, Amsterdam) (G 04) Mitochondrial protein homeostasis in the control of metabolism and aging 12.30-14.00 Lunch Foyer 1+2 13:15-14:00 Huishoudelijke vergadering VKGN 13.15-14:00 Huishoudelijke vergadering VKGL
14.00-16.00 Parallel sessions 14.00-16.00 Symposium 1A: VKGN Dutch news on malformation syndromes Chair: Alice Brooks 14.00-14.10 Connie Stumpel (MUMC, Maastricht) (T 01) Genetic weight watching 14.10-14.40 Gijs van Haaften (UMC Utrecht) (T 02) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes 14.40-15.00 Fonnet E. Bleeker (AMC-UVA, Amsterdam) (T 03) Co-occurrence in body site of malformations and cancer 15.00-15.20 Iris Jonkers (UMC, Groningen) (T 04) CRISPR/Cas9: The Swiss-army knife of gene editing 15.20-15.40 Margot Reijnders (UMC St. Radboud Nijmegen) (T 05) De novo deletions and truncating mutations in USP9X cause a recognizable ID syndrome with multiple congenital abnormalities in females 15.40-16.00 Maria M. Alves (Erasmus MC, Rotterdam) (T 06) The Role of Filamin A in Gastrointestinal Developmental Defects 14.00-16.00 Symposium 1B: VKGL Chair: VKGL 14.00-14.35 Marjolijn Ligtenberg, (UMC St. Radboud Nijmegen) (T 07) Growing role of tumor genetic alterations in therapeutic choices: impact for daily practice 14.35-15.20 Elizabeth Worthey (Hudson Alpha Institute for Biotechnology, Huntsville, Alabama, USA) (T 08) What clinically useful information can whole genome sequencing of rare or complex disease suffering or of healthy individuals provide?" 15.20-15.45 Plenary discussion
14.00-16.00 Symposium 1C: NACGG Nieuwe ontwikkelingen in de reproductieve genetica Room: Zaal 8/9 Chair: Lidewij Henneman (onderzoeker, VU medisch centrum Amsterdam) 14.00-14.35 Edith Coonen (T 09) (klinisch embryoloog, MUMC Maastricht) PGD voor chromosomale aandoeningen: Nieuwe technieken, nieuwe mogelijkheden? 14.35-15.10 Martine van Belzen (T 09) (laboratoriumspecialist klinische genetica, LUMC Leiden) Niet-invasieve prenatale diagnostiek voor de ziekte van Huntington 15.10-15.45 Cees Oudejans (T 09) (hoogleraar experimentele klinische chemie, VU medisch centrum Amsterdam) Maternaal plasma RNA sequencing: vroege detectie van preeclampsie 15.45 Afsluiting 16.00-17.30 Posters, coffee, tea Presenters at posters Foyer 1 + 2 17.30-18.30 Johan Braeckman, philosopher / PhD Ghent, Belgium (G 05) Why people are extremely gullible Evening: (Sydney zaal): Drinks Dinner Party
Program Friday October 23, 2015 9.00-10.25 Plenary session Chair: Joris Veltman 9.00-09.40 Reuven Agami (NKI, Amsterdam) 9.40-10.00 Ahmad Aziz, (LUMC, Leiden) (G 07) DNA repeat polymorphisms as modifiers of health and disease 10.00-10.20 Jeroen de Ridder (TU, Delft) (G 08) 3D hotspots of recurrent retroviral insertions reveal long-range interactions with cancer genes 10.25-11.25 Parallel sessions 10.25-11.25 Symposium 2A Chair: Hans van Bokhoven 10.25-10.40 Jakob Goldman (UMC St. Radboud, Nijmegen) (T 10) Human de Novo Mutations show Gender-Specific Patterns 10.40-10.55 Risha Smeding (LUMC, Leiden) (T 11) Genetic paleo-epidemiology: Medically relevant polymorphisms in ancient human populations 10.55-11.10 Kirstin Abbott (UMC Groningen) (T 12) Introduction of population based NGS expanded carrier screening in the Netherlands 11.10-11.25 Haico Attikum (LUMC, Leiden) (T 13) Loss of ZBTB24, a novel non-homologous end-joining protein, impairs class-switch recombination in ICF syndrome
10.25-11.25 Symposium 2B Chair: Raoul Hennekam 10.25-10.40 Lot Snijders-Blok (UMC St. Radboud Nijmegen) (T 14) Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling 10.40-10.55 Marian Weterman (AMC, Amsterdam) (T 15) Mechanism and evidence for the pathogenicity of AARS mutations in two families with Charcot-Marie-Tooth 10.55-11.10 Bart Appelhof (AMC, Amsterdam) (T 16) TOE1 mutations underlie Pontocerebellar Hypoplasia with disorders of sex development. 11.10-11.25 William Cheng (ErasmusMC, Rotterdam) (T 17) Functional analysis of genes carrying de novo mutations in Hirschsprung disease 11.25-11.45 Coffee-tea break Foyer 1 + 2 11.45-12.45 Parallel sessions 11.45-12.45 Symposium 3A Chair: John Engelen 11.45-12.00 Malgorzata Srebniak (ErasmusMC, Rotterdam) (T 18) Prenatal whole genome SNP array: frequency and relevance of incidental diagnoses in parental samples 12.00-12.15 Malou Heiligers (MUMC, Maastricht) (T 19) Perinatal follow-up of children born after preimplantation genetic diagnosis in the Netherlands between 1995 and 2013. 12.15-12.30 Albertien van Eerde (UMC Utrecht) (T 20) Diagnosing the undiagnosed: diagnostic power of genepanel sequencing in young ESRD patients 12.30-12.45 Barbara Frentz (UMC, Groningen) (T 21) The power of social media in rare disorders: the clinical delineation of the 6q25.1 deletion syndrome phenotype
11.45-12.45 Symposium 3B Chair: Peter Devilee 11.45-12.00 Claartje Meddens (UMC, Utrecht) (T 22) A novel systematic approach for candidate gene identification in complex genetic diseases based on 3D chromatin interactions. 12.00-12.15 Roy Straver (VU, Amsterdam) (T 23) Genome-wide nucleosome profiles derived from cell-free DNA reveal differences between fetal and maternal DNA 12.15-12.30 Kristina Hettne (LUMC, Leiden) (T 24) The implicitome: a resource for inferring gene-disease associations 12.30-12.45 Cornelis Blauwendraad (DZNE, Tuebingen, Germany) (T 25) Comprehensive promoter level eqtl analysis of the human frontal lobe using CAGEseq 12.45-13.15 Algemene ledenvergadering NVHG 13.00-14.00 Lunch and posterviewing Foyer 1 + 2 14.00-16.00 Plenary session Chair: Frank Baas 14.00-14.40 Danielle Posthuma (VU, Center for Neurogenomics and Cognitive Research, Amsterdam) Dutch Genome Sequencing Initiatives 14.40-15.10 Joris Veltman (UMC St. Radboud Nijmegen) (G 09) Large-scale exome and genome sequencing infrastructure for medical genetics research and diagnostics 15.10-15.40 Edwin Cuppen (UMCU, Utrecht) The Hartwig Medical Foundation: national scale whole genome sequencing and data integration for oncology and clinical genetics 15.40-15.50 NVHG Annual Award 2015 16:00 Closure