28. Jahrestagung
der Deutschen Gesellschaft für Humangenetik

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

Bochum, 29.-31.3.2017

 

Mittwoch/Wednesday 29/03/2017

Vorprogramm / Pre Satellite Meetings

08:30 - 12:00 Veranstaltungen für Oberstufenschüler und Lehrer
Diese Veranstaltung ist mit 1383 Sitzen komplett ausgebucht.
Programm
Audimax

9:00 - 13:00 Illumina Reproductive and Genetic Health User Group Meeting
Für das Satellite Meeting bittet Illumina um Ihre Anmeldung.
VZ Raum 82


9:00 – 13:00 CHROMATIN-Net (geschlossene Sitzung)
MSZ 02-4

 

Wissenschaftliches Programm // Scientific Program

ab 12:00 Registration

Foyer

 

13:00 - 14:30 Symposium 1
Studying genetic diseases with iPSCs and organoids
Chairs: Michael Speicher (Graz), Frank Kaiser (Lübeck)
Audimax

S1-01
Kevin Francis, Department of Pediatrics, Stanford School of Medicine, University of South Dakota, Sioux Falls, USA
Modeling disorders of sterol biosynthesis with reprogrammed stem cells: new insight into lipid-protein interactions, disrupted signaling mechanisms, and cellular phenotypes

S1-02
Thanathom Chailangkarn, Virology and Cell Technology Laboratory, Virology and Antibody Technology Research Unit
National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand
Williams syndrome: findings from the dish

S1-03
Edwin Cuppen, Center for Molecular Medicine, Cancer Genomics Netherlands, Department of Genetics, University Medical Center Utrecht, NL
Tissue-specific mutation accumulation in human adult stem cells during life

 

13:00 - 14:30 Symposium 2
Intracellular Organelles and their Diseases
Chairs: Johannes Zschocke (Innsbruck), Eva Klopocki (Würzburg)
HZO 40

S2-01
Carla Hollak, Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, NL
Treatment of lysosomal storage disorders: clinical issues, successes and challenges

S2-02
Michal Minczuk, MRC Mitochondrial Biology Unit; Cambridge, UK
Mitochondrial transcript processing and its disorders

S2-03
Ronald J. A. Wanders, University of Amsterdam, Academic Medical Center, Departments Clinical Chemistry and Pediatrics, Amsterdam, NL
Metabolic role of peroxisomes in humans: functional interplay with other subcellular organelles and genetic diseases of peroxisome metabolism

 

13:00 - 14:30 EDU 1 Der (un-)gelöste Fall: Dermatogenetik - (in German)
Moderation: Judith Fischer (Freiburg)
HZO 50

14:45 - 15:45 Selected Presentations
Audimax

14:45 - 15:45

SEL (SEL)
Wednesday 29th March 2017
Vorsitz: Jörg Epplen (Bochum), Christian Kubisch (Hamburg), Gabriele Gillessen-Kaesbach (Lübeck)
Raum: Audimax

14:45 - 15:00

SEL-001

The tumor genome of germinal center B-cell lymphomas other than Burkitt Lymphoma
M. Schlesner (German Cancer Research Center, Division of Theoretical Bioinformatics, Heidelberg, Germany)

15:00 - 15:15

SEL-002

Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome
RC. Betz (Institute of Human Genetics, University of Bonn, Bonn, Germany)

15:15 - 15:30

SEL-003

Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia and facial dysmorphism
FL. Harms (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

15:30 - 15:45

SEL-004

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing
A. Gregor (Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, USA)

 

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
Audimax

  • Begrüßung durch den Tagungspräsidenten Prof. Jörg Epplen (Bochum)
  • 30 Jahre GfH
  • Verleihung der GfH-Ehrenmitgliedschaft an Prof. Clemens Müller-Reible (Würzburg)
  • Laudatio

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

Genetik des Riechens und die Riech-Rezeptoren
(in German)
Prof. Dr. Dr. Dr. Hanns Hatt, Lehrstuhl für Zellphysiologie, Ruhr-Universität Bochum
Audimax

 

 

 

Donnerstag/Thursday 30/03/2017

 

08:45 - 09:30 Plenary Session 1:
Christine M. Disteche: X-Chromosome Inactivation


Chair: Jörg Epplen (Bochum)
HZO 10

9:30 - 10:00 Coffee break // Industrial Exhibition
Foyer


10:00 - 11:30 EDU 2 Der (un-)gelöste Fall: Hirnfehlbildungen
(in German)
Moderation: Dagmar Wieczorek (Düsseldorf), Gabriele Gillessen-Kaesbach (Lübeck)
HZO 10

 

10:00 - 11:30 Workshop 1
HZO 40

10:00 - 11:30

WS1 Monogenic Diseases
Thursday 30th March 2017
Vorsitz: Bodo Beck (Köln), Alexander Volk (Hamburg)
Raum: HZO 40

10:00 - 10:15

WS1-001

A recurrent mutation affecting the REtention and Splicing complex cause a severe progeroid phenotype with lipodystrophy in mouse and man.
B. Fischer-Zirnsak (Max-Planck-Institut für Molekulare Genetik, Berlin, Germany)

10:15 - 10:30

WS1-002

Gerodermia osteodysplastica is a congenital disorder of glycosylation with impaired decorin glycanation leading to disorganization of extracellular matrix and TGF-β signalling.
W.L. Chan (Charité-Universitaetsmedizin Berlin, Berlin, Germany)

10:30 - 10:45

WS1-003

FRMPD4 is associated with X-linked non-syndromic hearing loss in humans
B. Vona (Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany)

10:45 - 11:00

WS1-004

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model
J. C. Hennings (Universitätsklinikum Jena, Jena, Germany)

11:00 - 11:15

WS1-005

Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations
R.G. Weber (Department of Human Genetics, Hannover Medical School, Hannover, Germany)

11:15 - 11:30

WS1-006

Loss of cdkl5 associated with deficient mammalian target of rapamycin (mTOR) signaling in mice and human cells
L. Musante (Max Planck Institute for Molecular Genetics, Berlin, Germany)

 

 

10:00 - 11:30 Workshop 2
HZO 50

10:00 - 11:30

WS2 Cancer Genetics I
Thursday 30th March 2017
Vorsitz: Jochen Geigl (Graz), Stefan Aretz (Bonn)
Raum: HZO 50

10:00 - 10:15

WS2-001

Inferring expressed genes by whole-genome sequencing of plasma DNA
P. Ulz (Medical University Graz, Graz, Austria)

10:15 - 10:30

WS2-002

Characterization of splice-site variants by targeted cDNA-Sequencing
G. Vasileiou (Institute of Human Genetics, FAU-Erlangen-Nürnberg, Erlangen, Germany)

10:30 - 10:45

WS2-003

RNA-based pathogenicity evaluation of variants of uncertain significance (VUS) in breast/ovarian cancer families
C. Kraus (Institute of Human Genetics, Erlangen, Germany)

10:45 - 11:00

WS2-004

A novel IDH1 R132H edited glioma in vitro model reveals altered metabolism and enhanced dependence on NAD+-regeneration in IDH1 R132H cells
M. Lehmann (Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany)

11:00 - 11:15

WS2-005

HOXB13 as a susceptibility gene for hereditary prostate cancer: Associations with disease risk, clinical presentation and family history in Germany
C. Maier (Institute of Human Genetics, University of Ulm, Ulm, Germany)

11:15 - 11:30

WS2-006

Smoking-associated DNA methylation markers predict lung cancer incidence
M. Elgizouli (Institute of Human Genetics, University Duisburg-Essen, Essen, Germany)

 

 

10:00 - 11:30 Workshop 3
HZO 60

10:00 - 11:30

WS3 Enhancers, Modifiers and Rare Variants
Thursday 30th March 2017
Vorsitz: Alexander Hoischen (Nijmegen), Sabine Hoffjan (Bochum)
Raum: HZO 60

10:00 - 10:15

WS3-001

Dynamic chromatin interactions at the PITX1 locus control enhancer activity during development and disease
M. Spielmann (Charité Universitätsmedizin Berlin, Berlin, Germany)

10:15 - 10:30

WS3-002

Mutations affecting coding or regulatory regions of SMC2 cause dysregulation of condensins resulting in a phenotype reminiscent of cohesinopathies
J. Pozojevic (Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany)

10:30 - 10:45

WS3-003

Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis
S. Schneider (Institute for Genetics, Cologne, Germany)

10:45 - 11:00

WS3-004

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
A. Montalbano (University Hospital Heidelberg, Heidelberg, Germany)

11:00 - 11:15

WS3-005

Heart valve dysfunction in men and mice is caused by loss of function mutations in Adamts19, a novel marker for valvular interstitial cells
F. Wünnemann (University of Muenster, Muenster, Germany)

11:15 - 11:30

WS3-006

Exome sequencing of 55 bipolar disorder patients with rapid cycling implicates novel candidate genes in disease development
LM. Schenk (Department of Genomics at the Life and Brain Center, Bonn, Germany)

 

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

12:00 - 13:00 Talk nach 12
Podiumsdiskussion: Quo vadis Humangenetik – Der neue EBM (in German)
Moderation: Christian Netzer (Köln) und Bernd Wollnik (Göttingen)
HZO 10


12:00 - 13:00 Sitzung der Naturwissenschaftler
Moderation: Ulrich Zechner (Mainz)
HZO 40

12:00 - 13:00 Lunchsymposia
Tagungsräume --> sind ausgeschildert // conference rooms are signposted

 

13:30 – 14:30 Symposium 3
Huntington Disease
Chairs: Jörg Epplen (Bochum), Thomas Haaf (Würzburg)
HZO 10

S3-01
Richard H. Myers, Department of Neurology, Boston University School of Medicine, Boston, USA
Huntington's disease - RNA-sequencing, small RNA-sequencing ChIP-sequencing and GWAS data

S3-02
Ralf Laufer, Teva R&D Product Development Mgmt., Netanya, Israel
The causal pathogesis of Huntington disease, new therapeutic approaches


13:30 – 14:30 Symposium 4
Consequences of Human Germline Variations

Chairs: Christian Kubisch (Hamburg), Bernd Wollnik (Göttingen)
HZO 40

S4-01
Patrick Sulem, deCode Genetics, Reykjavik , Iceland
Rare complete gene knockouts in adult humans

S4-02
Fowzan S Alkuraya, Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Homozygosity and The Human Variome: More Than Meets the Eye

 

13:30 – 14:30 Oral History Project (in German)
Geschichte der Humangenetik in der BRD – Zeitzeugenerinnerungen

Moderation: Heiner Fangerau (Düsseldorf), Felicitas Söhner (Düsseldorf)
HZO 50

 

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
Die Zukunft der nicht-invasiven genetischen Pränataldiagnostik (“NIPD”) – Ethische Aspekte
(in German only)
Moderation: Christoph Rehmann-Sutter (Bioethik, Lübeck)
Organisation: Jörg Epplen (Bochum)
Diskussionsteilnehmer: Christiane Woopen (Medizinethik, Köln) und Christian Netzer (Humangenetik, Köln)
HZO 10

16:00 – 17:30 Workshop 4
HZO 40

16:00 - 17:30

WS4 Intellectual Disability
Thursday 30th March 2017
Vorsitz: Christiane Zweier (Erlangen), Nataliya DiDonato (Dresden)
Raum: HZO 40

16:00 - 16:15

WS4-001

De novo truncating mutations in the last and penultimate exon of PPM1D cause a novel intellectual disability syndrome
S. Geuer (Radboud University Medical Center, Nijmegen, Netherlands)

16:15 - 16:30

WS4-002

De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype
F. Kortüm (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

16:30 - 16:45

WS4-003

Functional characterization of novel GNB1 mutations as a rare cause of global developmental delay
K. Lohmann (University of Lübeck, Lübeck, Germany)

16:45 - 17:00

WS4-004

Comprehensive phenotyping and trio-exome analysis of 50 children with neurodevelopmental disease
M. Hempel (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

17:00 - 17:15

WS4-005

Exome sequencing of pooled DNA samples for large-scale screening in individuals with sporadic intellectual disability
B. Popp (Institute of Human Genetics; FAU-Erlangen-Nürnberg, Erlangen, Germany)

17:15 - 17:30

WS4-006

Three years of experience with targeted next-generation sequencing of developmental delay
S. Diederich (Institute of Human Genetics at the University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany)

 



16:00 – 17:30 Workshop 5

HZO 50

16:00 - 17:30

WS5 Technology
Thursday 30th March 2017
Vorsitz: Michal Ruth Schweiger (Köln), Malte Spielmann (Berlin, Seattle)
Raum:  HZO 50

16:00 - 16:15

WS5-001

Improving the identification of disease-causing mutations with automated image analysis – current results of the PEDIA study
MA. Mensah (Institute of Medical Genetics and Human Genetics; Charité - Universitätsmedizin Berlin, Berlin, Germany)

16:15 - 16:30

WS5-002

The added value of rapid exome sequencing in critical clinical situations
K. Neveling (Department of Human Genetics, Radboud UMC Nijmegen, Netherlands)

16:30 - 16:45

WS5-003

Ultra-sensitive mosaic mutation detection in blood DNA of healthy individuals – new insights into age-related clonal hematopoiesis
A. Hoischen (Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands)

16:45 - 17:00

WS5-004

CNV detection from targeted next-generation panel sequencing data in routine diagnostics
A.M. Nissen (Medizinisch Genetisches Zentrum - MGZ, Munich, Germany)

17:00 - 17:15

WS5-005

Identification of transposon insertions in whole-exome sequencing data
S. Lukassen (Humangenetisches Institut, Erlangen, Germany)

17:15 - 17:30

WS5-006

The influence of human genetic variation on Epstein-Barr virus sequence diversity: a genome-to-genome approach
C. Hammer (Swiss Institute of Bioinformatics, Lausanne, Switzerland)



16:00 – 17:30 Workshop 6
HZO 60

16:00 - 17:30

WS6 Complex Genetics
Thursday 30th March 2017
Vorsitz: Ulrike Hüffmeier (Erlangen), Andreas Forstner (Bonn)
Raum: HZO 60

16:00 - 16:15

WS6-001

Contribution of Neandertal alleles to the heritability of psychiatric and cognitive phenotypes
LL. Kilarski (Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany)

16:15 - 16:30

WS6-002

Novel insights into male-pattern baldness pathobiology via integration of differential hair follicle miRNA and mRNA expression profiles with GWAS data
L.M. Hochfeld (Department of Genomics, Life&Brain Center, Bonn, Germany)

16:30 - 16:45

WS6-003

Male-pattern baldness and its association with coronary heart disease
S. Heilmann-Heimbach (Department of Genomics; Life & Brain GmbH; University of Bonn, Bonn, Germany)

16:45 - 17:00

WS6-004

Pleiotropic effect of genetic variants associated with complex diseases and traits in age-related macular degeneration
F. Grassmann (Institute of Human Genetics, Regensburg Germany)

17:00 - 17:15

WS6-005

Worldwide genetic association study of exfoliation syndrome and glaucoma identifies common genetic variants at five new susceptibility loci
F. Pasutto (Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany)

17:15 - 17:30

WS6-006

Nonsyndromic cleft palate only – evidence for a limited contribution of common variants in contrast to nonsyndromic cleft lip ± palate
N. Ishorst (Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany)

 

17:30 - 17:45 Einlass MV GfH

17:45 - 19:15 Mitgliederversammlung GfH (Membership Assembly GfH)
HZO 10

Geselliger Abend in der Henrichshütte (Beginn 19:45 - 00:30)
Social Evening at the Henrichshütte (start at 7:45 pm - 00:30 am)

 

 

Freitag/Friday 31/03/2017

08:45 - 09:30 Plenary Session 2:
David Goldstein

The identification and characterization of mutations causing neurodevelopmental diseases
Chair: Jörg Epplen (Bochum)
HZO 10

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

 

10:00 – 11:00 Symposium 5
The Genetic and Epigenetic Basis of Obesity
Chairs: Gabriele Gillessen-Kaesbach (Lübeck), Peter Wieacker (Münster)
HZO 10

S5-01
Johannes Beckers, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, Institute of Experimental Genetics, Neuherberg
Inter-generational inheritance of diet–induced obesity and diabetes and identification of epigenetic factors in mammalian gametes

S5-02
Heiko Krude, Charité Berlin
From rare to common: New findings in monogenic obesity with implications for polygenic, common obesity


10:00 – 11:00 Symposium 6
Genomics of Immune Mechanisms
Chairs: Johannes Schumacher (Bonn), Judith Fischer (Freiburg)
HZO 40

S6-01
Julian C. Knight, Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Genetics of gene expression in immunity and infection

S6-02
Soumya Raychaudhuri, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA
Fine-mapping the MHC region in autoimmune diseases

 

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)
HZO 50

12:00 - 13:30 Dialog mit Selbsthilfegruppen
Moderation: Klaus Zerres (Aachen)
Teilnehmer: Gesa Borek, Interessengemeinschaft Fragiles-X e.V.; Rita Lawrenz,
Arbeitkreis Down-Syndrom Deutschland e.V.; Heinz-Jürgen Brosig,
Deutsche Huntington-Hilfe e.V. und Hans Joachim Jentzsch, LEONA e.V.
HZO 10

12:00 - 13:30 DFG-Fördermöglichkeiten:
Individuelle Förderprogramme der DFG für jede Karrierestufe

Moderation: Astrid Golla, DFG (Bonn); Bernhard Horsthemke (Essen)
HZO 40

12:30 – 13:30 QW Molekulargenetik (in German)
Moderation: Dieter Gläser (Neu-Ulm)
HZO 50

12:30 - 13:45 Lunchtime

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

 

13:45 - 15:15 Pro & Contra II
„Mein Genom gehört mir“ – Aufklärung, Einwilligung und Datenmitteilung bei genomweiten Analysen
Moderation: Sabine Rudnik (Innsbruck), Johannes Zschocke (Innsbruck)
Diskussion: Eva Winkler (Nationales Centrum für Tumorerkrankungen, Heidelberg), Martin Langanke (Theologische Fakultät, Universität Greifswald) und Peter Burgard (Universitätskinderklinik Heidelberg)
HZO 10

 

13:45 - 15:15 Workshop 7
HZO 40

13:45 - 15:15

WS7 Clinical Genetics
Friday 31st March 2017
Vorsitz: Denise Horn (Berlin), Ute Moog (Heidelberg)
Raum: HZO 40

13:45 - 14:00

WS7-001

Discrepancies between clinical indications and molecular results in imprinting disorder diagnostics
T. Eggermann (Institute of Human Genetics, Aachen, Germany)

14:00 - 14:15

WS7-002

Nephrotic syndrome associated with brain anomalies - new lessons on the heterogeneity of Galloway-Mowat syndrome
M. Zenker (Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany)

14:15 - 14:30

WS7-003

CAD Mutations and Uridine-Responsive Epileptic Encephalopathy
I. Bader (Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria)

14:30 - 14:45

WS7-004

Delineation of the GRIN2A phenotypic spectrum
V. Strehlow (Institute of Human Genetics University of Leipzig Hospital and Clinics, Leipzig, Germany)

14:45 - 15:00

WS7-005

PSENEN mutations underlie Dowling-Degos disease associated with acne inversa
DJ. Ralser (Institute of Human Genetics, University of Bonn, Bonn, Germany)

15:00 - 15:15

WS7-006

Protein substitution therapy for autosomal recessive congenital ichthyosis (ARCI)
R. Plank (Dept. of Biological Sciences, University of Huddersfield, Huddersfield, UK)



13:30 - 15:00 Workshop 8
HZO 50

13:45 - 15:15

WS8 Cancer Genetics II
Friday 31st March 2017
Vorsitz: Harald Rieder (Düsseldorf), Ruthild Weber (Hannover)
Raum: HZO 50

13:45 - 14:00

WS8-001

Whole-genome and transcriptome sequencing of pediatric Burkitt lymphoma patients treated in population-based prospective clinical trials
C. Lopez (Institute of Human Genetics, University of Ulm, Ulm, Germany)

14:00 - 14:15

WS8-002

Epigenetic variation between clinical and genetic subgroups of Burkitt lymphoma
R. Wagener (Institute of Human Genetics Ulm University, Ulm, Germany)

14:15 - 14:30

WS8-003

Epigenetic analyses of T-cell large granular lymphocytic leukemia identify differentially methylated genes pointing to potentially deregulated signaling pathways
AK. Bergmann (Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig Holstein, Kiel, Germany)

14:30 - 14:45

WS8-004

Imbalance mapping and exome sequencing of paired primary diagnostic and relapse samples from MYC-positive Burkitt lymphomas
J. Bausinger (Institute of Human Genetics, Ulm University, Ulm, Germany)

14:45 - 15:00

WS8-005

In Runx1 mutated AML the number of Runx1 mutations, loss of the wild-type allele and the number and kind of additional mutations impact on prognosis
A. Stengel (MLL Munich Leukemia Laboratory, Munich, Germany)

15:00 - 15:15

WS8-006

Atypical paroxysmal nocturnal hemoglobinuria presenting with autoinflammatory symptoms is caused by germline and somatic mutations involving PIGT
A. Knaus (Berlin Brandenburg School for Regenerative Therapies, Berlin, Germany)

 


13:30 - 15:00 Workshop 9
HZO 60

13:45 - 15:15

WS9 Basic Mechanisms and Epigenetics
Friday 31st March 2017
Vorsitz: Ulrich Zechner (Mainz), Gökhan Yigit (Göttingen)
Raum: HZO 60

13:45 - 14:00

WS9-001

Paternal body mass index (BMI) effects on sperm methylation and transmission into the next generation
R. Potabattula (Institute of Human Genetics, Wuerzburg, Germany)

14:00 - 14:15

WS9-002

Extent and genetic basis of inter-individual DNA methylation differences in human monocytes
E. Leitão (Institute of Human Genetics - University Hospital Essen, Essen, Germany)

14:15 - 14:30

WS9-003

The dystonia 6 (DYT6) protein THAP1 recruits the histone deacetylase HDAC3 to mediate gene repression
J. Schmitz (Sektion für funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany)

14:30 - 14:45

WS9-004

The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men
F. Tüttelmann (Institute of Human Genetics, University of Münster, Münster, Germany)

14:45 - 15:00

WS9-005

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
T. Holling (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

15:00 - 15:15

WS9-006

ZBTB48 is a vertebrate telomere-binding protein limiting telomere length
A. Jahn (Institute for Clinical Genetics, TU Dresden, Germany)

 

15:30 - 15:45 Closing Ceremony / GfH-Awards / Closing Remarks
HZO 10

 

© Deutsche Gesellschaft für Humangenetik