29. Jahrestagung
der Deutschen Gesellschaft für Humangenetik

gemeinsam mit
der Österreichischen Gesellschaft für Humangenetik
und der Schweizerischen Gesellschaft für Medizinische Genetik

Münster, 14.-16.3.2018

 

 

Mittwoch/Wednesday 14/03/2018

 

Vorprogramm / Pre Satellite Meetings

08:30 - 12:00 Veranstaltungen für Oberstufenschüler und Lehrer
Congress Saal

 

11:00 - 13:00 Treffen des Huntington-Konsortiums
Präsymptomatische Diagnostik bei Huntington

Moderation: K. Brosig
Roter Saal 1

  • Die Arbeit der DHH zur Unterstützung der Humangentiker bei der Beratung von Menschen
    mit dem Huntington-Risiko und deren Angehörigen (Vorstand der DHH)
  • Leitliniengerechte prädiktive Diagnostik bei Huntington-Krankheit (Prof. Dr. M. Dose)
  • Der Stand der Forschungsvorhaben zu "Genschere (CRISPR-Cas9) und Gen-Stummschaltung"
    (Dr. R. Reilmann, George Huntington Institut, Münster)

 

Wissenschaftliches Programm // Scientific Program

ab 12:00 Registration
Foyer

 

13:00 - 14:30 Symposium 1
Development and Disease
Chairs: Christian Kubisch (Hamburg), Frank Kaiser (Lübeck)
Congress Saal

S1-01
David FitzPatrick, MRC Institute of Genetics and Molecular Medicine,
The University of Edinburgh, Western General Hospital Campus, UK
Coupling genomic and phenotypic analysis to diagnose developmental disorders

S1-02
Nadav Ahituv, Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA / Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA
Functional characterization and therapeutic targeting of gene regulatory elements

S1-03
Max Muenke, Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA
Early errors in embryogenesis of the growth of the brain

 

13:00 - 14:30 Symposium 2
Single Cell Genomics
Chairs: Sven Cichon (Basel), Eva Klopocki (Würzburg)
Grüner Saal

S2-01
Orit Rozenblatt-Rosen, Klarman Cell Observatory, Human Cell Atlas Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA
The Human Cell Atlas

S2-02
Gavin Kelsey, Epigenetics Programme, The Babraham Institute, Cambridge, UK
Exploring epigenomic landscapes in single cells

S2-03
Evan Daugharthy, Wyss Institute and HMS, ReadCoor, Cambridge, MA
FISSEQ: A fully automated massively-multiplex panomic in situ detection platform

13:00 - 14:30 EDU 1 Hereditäre Neuropathien (in German)
Moderation: Ingo Kurth (Aachen), Sabine Rudnik-Schöneborn (Innsbruck)
Weißer Saal

14:45 - 15:45 Selected Presentations
Congress Saal

14:45 - 15:45

SEL (SEL)
Wednesday 14th March 2018
Vorsitz: Peter Wieacker, Christian Kubisch
Raum:

14:45 - 15:00

SEL-01

De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila
Zweier, C. (Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen, Germany)

15:00 - 15:15

SEL-02

Novel gene and pathomechanism in Cornelia de Lange syndrome
Parenti, I. (Section for Functional Genetics at the Institute of Human Genetics, University of Lübeck, Lübeck, Germany)

15:15 - 15:30

SEL-03

Mutations in the BAF chromatin remodelling complex subunit DPF2 associated with Coffin-Siris syndrome
Vasileiou, G. (Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen, Germany)

15:30 - 15:45

SEL-04

CHP1 reduction ameliorates SMA pathology by restoring DNM1 hyperphosphorylation and endocytosis
Janzen, E. (Institute of Human Genetics, University of Cologne, Cologne, Germany)

 

15:45 - 17:30 Get together
Foyer

17:30 - 18:30 Opening Ceremony / Eröffnung durch den Tagungspräsidenten
Award of the GfH Honorary Membership / Verleihung der Ehrenmitgliedschaft
Congress Saal

  • Begrüßung durch den Tagungspräsidenten Prof. Peter Wieacker (Münster)
  • Verleihung der GfH-Ehrenmedaille an Prof. Han Brunner (Nijmegen, NL)
  • Laudatio: Gabriele Gillessen-Kaesbach (Lübeck)

18:30 - 19:30 Keynote lecture / Öffentlicher Vortrag

Prof. Dr. Hans-Christian Pape (Münster)
Emotion oder Gefühl: Furcht und Angst im Spiegel der Hirnforschung (in German)
Congress Saal

 

 

Donnerstag/Thursday 15/03/2018

08:45 - 09:30 Plenary Session 1:
Hans Schöler
: Induced Stem Cells: Disease Modeling and Drug Screening
Chair: Peter Wieacker (Münster)
Congress Saal

09:30 - 10:00 Coffee break // Industrial Exhibition
Foyer

10:00 - 11:30 EDU 2 Asymmetrische Wachstumsstörungen - Mosaike (in German)
Moderation: Ute Moog (Heidelberg), Birgit Zirn (Stuttgart)
Congress Saal

10:00 - 11:30 Workshop 1
Grüner Saal

10:00 - 11:30

W1 Ageing (W1)
Thursday 15th March 2018
Vorsitz: Zechner U. (Frankfurt), Küchler A. (Essen)
Raum: Grüner Saal

10:00 - 10:15

W1-01

Novel segmental progeroid syndrome is caused by constitutive dysfunction of the Mdm2-p53 axis
Lessel, D. (University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

10:15 - 10:30

W1-02

Recurrent de novo Mutations in SLC25A24 Cause Gorlin-Chaudhry-Moss Syndrome and Mitochondrial Dysfunction
Ehmke, N. (Charité-Universitätsmedizin Berlin, Berlin, Germany)

10:30 - 10:45

W1-03

Constitutively low lamin A/C levels in TOR1AIP1-associated segmental progeria can be partially stabilized by ERK 1/2 inhibition
Lessel, I. (University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

10:45 - 11:00

W1-04

Genome-wide DNA methylation profiling reveals epigenetic signatures associated with Werner syndrome
Maierhofer, A. (Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany)

11:00 - 11:15

W1-05

Molecular features of ageing in sperm and blood DNA in a cohort of healthy ageing men (FAMe)
Laurentino, S. (Universitätsklinikum Münster, Centrum für Reproduktionsmedizin und Andrologie, Münster, Germany)

11:15 - 11:30

W1-06

Variant rs2168518:G>A in the seed region of miR-4513 is associated with age-related macular degeneration (AMD) influencing angiogenesis, migration, proliferation and gene regulation
Kiel, C. (Institute of Human Genetics, Regensburg, Germany)

 

10:00 - 11:30 Workshop 2
Weißer Saal 1

10:00 - 11:30

W2 Basic Mechanisms (W2)
Thursday 15th February 2018
Vorsitz: Rosenberger G. (Hamburg), Ludwig K. (Bonn)
Raum: Weißer Saal

10:00 - 10:15

W2-01

Genomic predetermined breaking points - “FANCD2 binding identifies conserved fragile sites at large transcribed genes”
Pentzold, C. (Institute of Human Genetics, Jena University Hospital, Jena, Germany)

10:15 - 10:30

W2-02

Development of an in vitro model for the induction of artificial imprints
Kühnel, T. (Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany)

10:30 - 10:45

W2-03

Inhibition of histone deacetylation up-regulates the repressed paternal allele of the imprinted Kcnk9 gene towards improving the behavioral phenotype of a mouse model of Birk-Barel syndrome
Cooper, A. (Institute of Human Genetics, Mainz, Germany)

10:45 - 11:00

W2-04

The mTOR pathway regulates mRNA stability of synaptic cell adhesion proteins in neurons.
Schüle, M. (University Medical Center, Mainz, Germany)

11:00 - 11:15

W2-05

Understanding (in)fertility - A broad single-cell transcriptome view of the male mouse germ line
Bosch, E. (Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Germany)

11:15 - 11:30

W2-06

Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence
Goldmann, J.M. (Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands)

 

10:00 - 11:30 Workshop 3
Roter Saal 1

10:00 - 11:30

W3 Neurogenetics (W3)
Thursday 15th March 2018
Vorsitz: Hehr U. (Regensburg), Volk A. (Hamburg)
Raum: Roter Saal

10:00 - 10:15

W3-01

Biallelic mutation in CHP1 causes human autosomal recessive ataxia by impairing NHE1 membrane targeting
Mendoza Ferreira, N. (Centre for Molecular Medicine Cologne, University of Cologne, Cologne, Germany)

10:15 - 10:30

W3-02

Biallelic mutations in VPS13D are a novel cause of ataxia with spasticity and lead to mitochondrial dysfunction
Lohmann, K. (University of Luebeck, Luebeck, Germany)

10:30 - 10:45

W3-03

Tubulin polyglutamylation defects cause infantile-onset neurodegeneration
Senderek, J. (Ludwig Maximilians University Munich, Munich, Germany)

10:45 - 11:00

W3-04

Distinct functional consequences of SCN2A mutations determine the phenotype
Begemann, A. (Institute of Medical Genetics, University of Zurich, Zurich, Switzerland)

11:00 - 11:15

W3-05

A homozygous activating ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy with congenital stiffness
Harms, FL. (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

11:15 - 11:30

W3-06

Exome-wide copy number variant analysis in multiply affected families provides new insight into the pathogenesis of schizophrenia
Greve, C. (Department of Genomics, Life&Brain Center, University of Bonn, Bonn, Germany)

 

10:00 - 11:30 QW Genetische Beratung (in German)
Moderation: Dieter Schäfer und Friedmar Kreuz
Vorgesehene Referenten: Prof. Dr. Berth (VPAH), Herr PD Dr. Meins und Dieter Schäfer
Weißer Saal 2

10:00 - 11:30 Dialog mit Selbsthilfegruppen
Moderation: Klaus Zerres (Aachen)
Roter Saal 2

11:30 - 13:30 Lunchtime // Industrial Exhibition
Foyer

12:00 - 13:00 Industrial Workshops
Tagungsräume --> werden ausgeschildert // conference rooms are signposted

12:00 - 13:00 Talk nach 12
Genom-Editierung an der menschlichen Keimbahn:
eine Zwischenbilanz der ethischen Debatte
(in German)

Moderation: Peter Wieacker (Münster)
Bettina Schöne-Seifert (Münster)
Congress Saal

12:00 - 13:00 Sitzung der Naturwissenschaftler
Moderation: Ulrich Zechner (Mainz)
Grüner Saal

  • Aktuelle Entwicklungen und Projekte: Bericht aus der Fachhumangenetiker-Kommission
    (Prof. Dr. U. Zechner)
  • Bericht aus dem Netzwerk der Fachwissenschaftler in der Medizin (Prof. Dr. J. Kunz)
  • Update – Registrierung für das europäische Zertifikat „Clinical Laboratory Geneticist“ (Prof. Dr. U. Zechner)
  • Sonstiges

13:30 – 14:30 Symposium 3
Infertility
Chairs: Peter Wieacker (Münster), Judith Fischer (Freiburg)
Congress Saal

S3-01
Frank Tüttelmann, Institut für Humangenetik, Universität Münster
Genetic disorders of spermatogenesis

S3-02
Luca Persani, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Genetics and Management of Primary Ovarian Insufficiency

13:30 – 14:30 Symposium 4
Liquid Biopsies / Prevention

Chairs: Michael Speicher (Graz), Axel Bohring (Münster)
Grüner Saal

S4-01
Nitzan Rosenfeld, Cancer Research UK Cambridge Institute; Inivata Ltd.
Cell-free DNA as a clinical tool in oncology

S4-02
Nickolas Papadopoulos, The Johns Hopkins Institutions, Baltimore, USA
Liquid Biopsy for the early detection of cancer: applications in screening and minimal residual disease

14:30 - 16:00 Postersession I (ungerade Zahlen/uneven numbers) - Tea & Coffee
Posterräume --> werden ausgeschildert // rooms are signposted

16:00 – 17:30 Pro & Contra I
Panel versus Exom: Massiv-parallele Sequenzierung zwischen Möglichkeit und Evidenz
(in German only)
Moderation: Markus Nöthen (Bonn), Johannes Zschocke (Innsbruck)
Podiumsdiskussion mit Thomas Meitinger, Birgit Zirn, Martin Zenker
Congress Saal

16:00 – 17:30 Workshop 4
Grüner Saal

16:00 - 17:30

W4 Complex Genetics (W4)
Thursday 15th March 2018
Vorsitz: Forstner A. (Bonn), Hoffjan S. (Bochum)
Raum: Grüner Saal

16:00 - 16:15

W4-01

Genome-wide analysis of transcriptional and cytokine response variability in activated human immune cells
Kim-Hellmuth, S. (Max-Planck-Institute of Psychiatry, Munich, Germany)

16:15 - 16:30

W4-02

Androgenetic alopecia – functional annotation of GWAS findings using tissue-specific gene expression and the FUMA platform.
Heilmann-Heimbach, S. (Department of Genomics, Life&Brain Center, University of Bonn, Bonn, Germany)

16:30 - 16:45

W4-03

Comprehensive Genetic Analysis Of Whole Genome Sequencing Data From 108 Individuals Of 8 Multigenerational Spanish Families Affected With Bipolar Disorder
Fischer, SB. (Human Genomics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland)

16:45 - 17:00

W4-04

Exome sequencing with subsequent multi-tier analyses in a large multiply affected family cohort provides new insight into schizophrenia
Degenhardt, F. (Department of Genomics, Life&Brain Center, University of Bonn, Bonn, Germany)

17:00 - 17:15

W4-05

Genome-wide association study of panic disorder reveals genetic overlap with depression and neuroticism
Forstner, AJ. (Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany)

17:15 - 17:30

W4-06

Phenome-wide association studies (PheWAS) across large “real-world data” population cohorts support drug target validation
Runz, H. (Merck Research Laboratories, Boston, USA)

 

16:00 – 17:30 Workshop 5
Weißer Saal

16:00 - 17:30

W5 Molecular Basis of Disease (W5)
Thursday 15th March 2018
Vorsitz: Mangold E. (Bonn), Moog U. (Heidelberg)
Raum: Weißer Saal

16:00 - 16:15

W5-01

Identification of EDIL3 sequence variants as genetic risk factors for intracranial aneurysms and subarachnoid hemorrhage
Renner, S. (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

16:15 - 16:30

W5-02

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects  by Clinical Features, Flow Cytometry, and Automated Image Analysis
Knaus, A. (Institute for Medical Genetics and Human Genetics, Charité Berlin University of Medicine, Berlin, Germany)

16:30 - 16:45

W5-03

Loss-of-function Mutations in C11ORF70 Cause Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Höben, IM. (Department of General Pediatrics, University Children’s Hospital Muenster, Muenster, Germany)

16:45 - 17:00

W5-04

The ClC-K2 Chloride Channel is Critical for Salt Handling in the Distal Nephron
Hennings, JC. (Institut für Humangenetik, Universitätsklinikum Jena, Jena, Germany)

17:00 - 17:15

W5-05

Mutation of Serine/Threonine Protein Kinase 36 (STK36) Causes Primary Ciliary Dyskinesia with a Central Pair Defect
Cindrić, S. (Department of General Pediatrics, University Children’s Hospital Muenster, Muenster, Germany)

17:15 - 17:30

W5-06

Exome sequencing in human bladder exstrophy and developmental biology studies in zebrafish implicate SLC20A1 as a major regulator of urinary tract development
Schmidt, J.M. (Institute of Anatomy, Bonn, Germany)

 

16:00 – 17:30 Workshop 6
Roter Saal

16:00 - 17:30

W6 Cancer Genetics (W6)
Thursday 15th March 2018
Vorsitz: Geigl J. (Graz), Weber R.G. (Hannover)
Raum: Roter Saal

16:00 - 16:15

W6-01

Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis
Weber, R.G. (Department of Human Genetics, Hannover Medical School, Hannover, Germany)

16:15 - 16:30

W6-02

BRIP1- A high risk gene for late-onset familial ovarian cancer, but not for familial breast cancer
Weber-Lassalle, N. (Center for Integrated Oncology, University Hospital Cologne, Medical Faculty, Cologne, Germany)

16:30 - 16:45

W6-03

Germline loss-of-function variants in the BARD1 gene are associated with familial breast cancer
Weber-Lassalle, K. (Center for Familial Breast and Ovarian cancer, University Hospital Cologne, Cologne, Germany)

16:45 - 17:00

W6-04

Analysis of chromatin architecture and DNA-methylation in paediatric B-cell lymphoblastic leukaemia
Bergmann, AK. (Institut für Humangenetik, Medizinische Hochschule Hannover, Germany)

17:00 - 17:15

W6-05

Identification of prognostic genetic markers via transcriptomics in children with precursor-B acute lymphoblastic leukemia (pB-ALL)
Thomay, K. (Department of Human Genetics, Hannover Medical School, Hannover, Germany)

17:15 - 17:30

W6-06

IG-MYC-positive leukemia and lymphoma with precursor B-cell phenotype are genetically and epigenetically distinct from Burkitt lymphomas
Wagener, R. (Institute of Human Genetics, University Ulm and Ulm University Medical Center, Ulm, Germany)

 

16:00 – 17:30 Oral History Project (in German)
Workshop „Zeitgeschichte der Humangenetik
Pavillon 1
Moderation: Heiner Fangerau

  • Felicitas Söhner, Matthis Krischel und Heiner Fangerau (Institut für Geschichte, Theorie und Ethik der Medizin, Heinrich-Heine-Universität Düsseldorf): Zeitgeschichte der Humangenetik in Deutschland:
    Erste Ergebnisse aus 30 Experteninterviews
  • Heike Petermann und Hans-Georg Hofer (Institut für Ethik, Geschichte und Theorie der Medizin, Westfälische Wilhelms-Universität Münster): Internationale Perspektiven auf Humangenetik, Zeitgeschichte und Oral History
  • Susanne Doetz (Institut für Geschichte der Medizin und Ethik in der Medizin, Charité – Universitätsmedizin Berlin): Die humangenetische Beratung in der DDR in den 1970er und 1980er Jahren: Legitimierung, Strukturen und Praktiken

 

17:30 - 17:45 Einlass MV GfH

17:45 - 19:15 Mitgliederversammlung GfH (Membership Assembly GfH)
Einladung zur Mitgliederversammlung - Tagesordnung
Satzungsänderungsvorschlag

Congress Saal

Geselliger Abend im LWL-Museum für Kunst und Kultur
Social Evening at the LWL-Museum of Arts and Culture
LWL-Museum für Kunst und Kultur in Münster, Eingang: Rothenburg / Ecke Pferdegasse

Beginn 19:30 - 00:00 //
start at 7:30 pm - 00:00 am

 

 

Freitag/Friday 16/03/2018

08:45 - 09:30 Plenary Session 2:
Prof. Dr. Peter Koopman: Molecular Genetics of Sex Determination and Disorders of Sex Development

Chair: Peter Wieacker (Münster)
Congress Saal

 

09:30 - 10:00 Coffee break // Industrial Exhibition
Foyer

 

10:00 – 11:00 Symposium 5
Connective Tissue Disorders
Chairs: Bernd Wollnik (Göttingen), Johannes Zschocke (Innsbruck)
Congress Saal

S5-01
Fransiska Malfait, Center for Medical Genetics, Ghent University Hospital, Belgium
New Developments in Ehlers-Danlos Syndromes

S5-02
Bart Loeys, Medische Genetica Universiteit Antwerpen, Campus Drie Eiken, Edegem, Belgium
Aortic aneurysm and dissection: The translational journey from Marfan to Sartan and back

 

10:00 – 11:00 Symposium 6
Multifactorial Diseases
Chairs: Johannes Schumacher (Bonn), Jörg Epplen (Bochum)
Grüner Saal

S6-01
Andre Franke, Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
From GWAS to systematic host-microbiome association studies in complex immune-meidated diseases


S6-02
Cathryn Lewis, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, UK
Dissecting the genetic contribution to psychiatric disorders: heterogeneity and congruity

 

11:00 - 12:30 Postersession II (gerade Zahlen / even numbers)
Posterräume --> werden ausgeschildert
// rooms are signposted

 

11:00 - 12:30 Mitgliederversammlung BVDH (Membership Assembly BVDH; for members only)
Congress Saal

 

12:30 – 13:30 QW Molekulargenetik (in German)
Moderation: Dieter Gläser (Neu-Ulm), Jochen Decker (Freiburg)
Congress Saal

 

12:30 - 13:30 DFG-Fördermöglichkeiten: Individuelle Förderprogramme der DFG für jede Karrierestufe
Moderation: Astrid Golla, Bonn und Bernhard Horsthemke, Essen
Grüner Saal

 

12:30 - 13:45 Lunchtime // Industrial Exhibition
Foyer

12:30 - 13:30 Industrial Workshops
Tagungsräume --> werden ausgeschildert // conference rooms are signposted

 

13:45 - 15:15 Pro & Contra II
Wie sieht die Zukunft der Zytogenetik aus? (in German)
Congress Saal
Moderation:
Thomas Haaf (Würzburg)

Impulsreferate mit anschließender Diskussion mit dem Publikum

Ron Hochstenbach (Klinische Genetik, Amsterdam)
Thomas Meitinger (Institut für Humangenetik der TU München)
Harald Rieder (Institut für Humangenetik, Düsseldorf)
Reiner Siebert (Institut für Humangenetik, Ulm)

 

13:45 - 15:15 Workshop 7
Grüner Saal

13:45 - 15:15

W7 Bone and Skin (W7)
Friday 16th March 2018
Vorsitz: Reutter H. (Bonn), Netzer C. (Köln)
Raum: Grüner Saal

13:45 - 14:00

W7-01

Genetic and phenotypic dissection of a neglected patient population with early onset osteoporosis reveals a significant contribution of monogenic disorders
Kornak, U. (Charité - Universitätsmedizin Berlin, Berlin, Germany)

14:00 - 14:15

W7-02

Identification of microRNAs in human neural crest cells and their potential implication in nonsyndromic cleft lip with/ without cleft palate
Stüssel, L. G. (Department of Genomics, Life&Brain Center, University of Bonn, Bonn, Germany)

14:15 - 14:30

W7-03

Identification of novel candidate genes for idiopathic short stature using whole exome sequencing
Hauer, NN. (Institute of Human Genetics FAU Erlangen-Nürnberg, Erlangen, Germany)

14:30 - 14:45

W7-04

Missense and splicing mutations in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
Rappold, GA. (Department of Human Molecular Genetics – Institute of Human Genetics - Heidelberg University, Heidelberg, Germany)

14:45 - 15:00

W7-05

Periodontal Ehlers-Danlos syndrome is related to aberrant posttranslational processing and/or secretion of mutated complement 1 subunits C1r and C1s
Gröbner, R. (Medical University - Division of Human Genetics, Innsbruck, Austria)

15:00 - 15:15

W7-06

Mutations in SULT2B1 cause autosomal recessive congenital ichthyosis in humans
Heinz, L. (Faculty of Biology, University of Freiburg, 79104, Freiburg, Germany)

 

13:45 - 15:15 Workshop 8
Weißer Saal

13:45 - 15:15

W8 Neurodevelopment (W8)
Friday 16th March 2018
Vorsitz: Redler S. (Düsseldorf), Abou-Jamra R., (Leipzig)
Raum: Weißer Saal

13:45 - 14:00

W8-01

Abnormal protein glycosylation in AAMR-syndrome
Franzka, P. (Institut für Humangenetik, Universitätsklinikum Jena, Jena, Germany)

14:00 - 14:15

W8-02

Identification of further individuals with de novo CTCF mutations refines the phenotypic spectrum, and altered dosage causes locomotor defects in Drosophila
Konrad, EDH. (FAU-Erlangen-Nürnberg, Erlangen, Germany)

14:15 - 14:30

W8-03

The genetic etiology of early-onset epileptic encephalopathies: a combined whole-exome sequencing and high-resolution copy number study
Rauch, A. (Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland)

14:30 - 14:45

W8-04

Chances and challenges associated with an exome-based diagnostic algorithm: a single center experience from 1,500 cases
Haack, T.B. (Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany)

14:45 - 15:00

W8-05

Large-scale systematic analysis of recessive neurodevelopmental disorders in consanguineous families
Gregor, A. (Laboratory of Pediatric Brain Disease, The Rockefeller University, New York, USA)

15:00 - 15:15

W8-06

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Gilissen, C. (Radboud UMC, Nijmegen, The Netherlands)

 

13:45 - 15:15 Workshop 9
Roter Saal

13:45 - 15:15

W9 Technologies and Bioinformatics (W9)
Friday 16th March 2018
Vorsitz: Hoffmann P. (Basel), Schweiger, M.R. (Berlin)
Raum: Roter Saal

13:45 - 14:00

W9-01

Long-read sequencing – for detecting clinically relevant structural variation
Hoischen, A. (Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands)

14:00 - 14:15

W9-02

Long-read sequencing goes clinical
Neveling, K. (Radboud university medical center, Nijmegen, The Netherlands)

14:15 - 14:30

W9-03

Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders
Pantel, JT. (Institute for Medical Genetics and Human Genetics Charité University Medicine, Berlin, Germany)

14:30 - 14:45

W9-04

Deep Phenotyping for Deep Learning (DPDL): A searchable knowledge base which integrates genotype-phenotype information for clustering analysis in the phenotype space
Hsieh, T.-C. (Institute for Genome Statistics and Bioinformatics, Bonn, Germany)

14:45 - 15:00

W9-05

eDiVA – Classification and Prioritization of Variants for Clinical Diagnostics
Ossowski, S. (Universitat Pompeu Fabra, Spain)

15:00 - 15:15

W9-06

Whole Exome Sequencing as a universal first line diagnostic test
Geuer, S. (Department of Human Genetics -Donders Centre for Brain Cognition and Behavior - Radboud University Medical Center, Nijmegen, the Netherlands)

15:30 - 15:45 Closing Ceremony / GfH-Awards / Closing Remarks
Congress Saal

© Deutsche Gesellschaft für Humangenetik