27. Jahrestagung der Deutschen Gesellschaft für Humangenetik
gemeinsam mit der Österreichischen Gesellschaft für Humangenetik
und der Schweizerischen Gesellschaft für Medizinische Genetik

Lübeck
16.-18.3.2016

Tagungsband

 

Vorprogramm

Mittwoch/Wednesday 16/03/2016

08:00 - 12:00 Illumina User Group Meeting

Cutty Sark

08:30 - 11:30 Veranstaltungen für Oberstufenschüler und Lehrer

Hansesaal

09:00 - 12:00 Chorea Huntington Konsortiumssitzung

Moderation: Deutsche Huntington Hilfe und ihr wissenschaftlicher Beirat
Wintergarten

 

 

Wissenschaftliches Programm

Mittwoch/Wednesday 16/03/2016

 

ab 12:00 Registration // Erfrischungen // Tea & Coffee

Foyer

 

13:00 - 14:30 EDU 1 Bewegungsstörungen -
Welche Informationen helfen bei der genetischen Diagnostik
(in German only)
Moderation: Alexander Münchau (Lübeck) und Katja Lohmann (Lübeck)
Wintergarten

 

13:00 - 14:30 Symposium 1
CRISPR / CAS
Chairs: Kerstin Kutsche (Hamburg), Michael Speicher (Graz)
Hansesaal

S1-01
Matthias Heidenreich, Broad Institute of MIT and Harvard and McGovern Institute for Brain Research, Cambridge, MA, USA
Development and Applications of CRISPR-Cas9 for Genome Engineering

S1-02
Stefan Mundlos, Institute of Human Genetics, MPI, Charité, Berlin
CRISPR-Cas9 Genome Editing – a Game Changer in Genetics

S1-03
Charles Gersbach, Department of Biomedical Engineering, Duke University, Durham, North Carolina, USA
Correction of Dystrophin Mutations by CRISPR/Cas9

 

13:00 - 14:30 Symposium 2
Epigenetics
Chairs: Thomas Haaf (Würzburg), Klaus Zerres (Aachen)
Cutty Sark

S2-01
Steve Horvarth, Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, USA;
Epigenetic Clock and Biological Age

S2-02
Nadine Provençal, Max-Planck-Institute of Psychiatry, München
Epigenetic Effects of Glucocorticoids Exposure During Hippocampal Neurogenesis
and Their Implication in Stress Related Psychiatric Disorders


S2-03
Bernhard Horsthemke, Institute of Human Genetics, Universitätsklinikum Essen
Epigenetics – Why its Impact on the Development of Disease is Underestimated?

 

14:30 - 15:00 Coffee break / Industrial Exhibition

 

15:00 - 16:00 Selected Presentations
Hansesaal

15:00 - 16:00

SEL (Sel)
Wednesday 16th March 2016
Vorsitz: Gabriele Gillessen-Kaesbach (Lübeck), Christian Kubisch (Hamburg), Klaus Zerres (Aachen)
Raum: Hansesaal

15:00 - 15:15

Sel-01

A novel molecular mechanism for progeroid phenotypes
Beleggia, F. (Institute of Human Genetics, Cologne, Germany)

15:15 - 15:30

Sel-02

Copy number variation morbidity map of congenital limb malformations reveals that the majority of pathogenic variants affect non-coding regulatory elements
Flöttmann, R. (Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany)

15:30 - 15:45

Sel-03

Mutations in the X-linked gene TEX11 are a common cause for meiotic arrest and azoospermia
Tüttelmann, F. (Institute of Human Genetics, University of Münster, Münster, Germany)

15:45 - 16:00

Sel-04

Ultra-sensitive mosaic mutation detection for clinical applications
Hoischen, A. (Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands)

 

 

16:00 - 17:30 Opening Ceremony / Eröffnung durch die Tagungspräsidentin
Award of the GfH-Medal of Honor / Verleihung der Ehrenmedaille
Hansesaal

  • Begrüßung durch die Tagungspräsidentin Prof. Gabriele Gillessen-Kaesbach (Lübeck)
  • Verleihung der GfH-Ehrenmedaille an Prof. Bernhard Horsthemke (Essen)
    Vortrag: "The Inheritance of Epigenetic Defects"
  • Laudatio von Prof. Eberhard Passarge (Essen)

17:30 - 18:30 Keynote lecture / Öffentlicher Vortrag

Wie wird man zum Spitzenmusiker? Höchstleistung im Spannungsfeld von Genetik, Gesellschaft und Persönlichkeit (In German only)
Prof. Dr. Eckart Altenmüller, Hochschule für Musik, Theater und Medien Hannover
Hansesaal

18:30 - 19:30 Get together
Foyer

 

 

Donnerstag/Thursday 17/03/2016

 

09:00 - 09:45 Plenary Session 1:
Sir John Burn
, Institute of Genetic Medicine, International Centre for Life Newcastle University, Newcastle upon Tyne, UK
“Genetic Prediction: Clinical relevance of DNA testing and the future of Human Genetics”
Chair: Gabriele Gillessen-Kaesbach (Lübeck)
Hansesaal

9:45 - 10:15 Coffee break // Industrial Exhibition
Foyer


10:15 - 11:45 EDU 2 Der (un-)gelöste Fall
(in German only)
Moderation: Dagmar Wieczorek (Düsseldorf), Gabriele Gillessen-Kaesbach (Lübeck)
Hansesaal

10:15 - 11:45 Workshop 1
Wintergarten

10:15 - 11:45

WS1-Intellectual Disability (WS1)
Thursday 17th March 2016
Vorsitz: Almuth Caliebe (Kiel), Denise Horn (Berlin)
Raum: Wintergarten

10:15 - 10:30

WS1-01

SysID: A systematic approach to the genetic and clinical heterogeneity of intellectual disability disorders
Zweier, C. (Institute of Human Genetics; FAU-Erlangen-Nürnberg, Erlangen, Germany)

10:30 - 10:45

WS1-02

Exome sequencing of 311 trios confirms the importance of de novo mutations in intellectual disability
Wieland, T. (Institute of Human Genetics; Helmholtz Zentrum München, Neuherberg, Germany)

10:45 - 11:00

WS1-03

Whole exome sequencing in 150 consanguineous families with intellectual disability: high diagnostic yield and identification of novel candidate genes
Jamra, A. (Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen, Germany)

11:00 - 11:15

WS1-04

De novo deleterious mutations in CHAMP1 cause intellectual disability with severe speech impairment
Hempel, M. (Institute of Human Genetics, Hamburg, Germany)

11:15 - 11:30

WS1-05

Homozygous variant in TAF13, a component of transcription factor II D, deregulating transcription in multiple CNS development pathways in a family with autosomal recessive intellectual disability
Tawamie, H. (Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen, Germany)

11:30 - 11:45

WS1-06

Identification of FRRS1L as a novel intellectual disability gene in humans and a central determinant of AMPA-receptor biogenesis
Abou Jamra, R. (Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany)

 

 

10:15 - 11:45 Workshop 2
Cutty Sark

10:15 - 11:45

WS2-Cancer Genetics (WS2)
Thursday 17th March 2016
Vorsitz: Ruthild Weber (Hannover), Harald Rieder (Düsseldorf)
Raum: Cutty Sark

10:15 - 10:30

WS2-01

Exome sequencing identifies a novel recessive subtype of colorectal adenomatous polyposis
Adam, RS. (Center for Hereditary Tumor Syndromes, University of Bonn, Germany)

10:30 - 10:45

WS2-02

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
Spier, I. (Center for Hereditary Tumor Syndromes, University of Bonn, Germany)

10:45 - 11:00

WS2-03

Co-occurrence of MYC amplification and TP53 mutations in human cancer
Ulz, P. (Institute of Human Genetics, Graz, Austria)

11:00 - 11:15

WS2-04

Integrative DNA-methylation and chromatin state analysis demonstrates that MYC-positive and negative Burkitt lymphoma share a common epigemomic profile
Wagener, R. (Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel/Christian-Albrechts University, Kiel, Germany)

11:15 - 11:30

WS2-05

Cancer associated fibroblast-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumour suppressor deficiency-related changes in healthy tissue
Zechner, U. (Institute of Human Genetics, University Medical Center, Johannes Gutenberg University Mainz, Germany)

11:30 - 11:45

WS2-06

Clinical Utility of Circulating Tumor DNA Monitoring: A report of more than 400 plasma-Seqs
Heitzer, E. (Institute of Human Genetics, Medical University of Graz, Graz, Austria)

 

 

10:15 - 11:45 Workshop 3
Sky-Bar

10:15 - 11:45

WS3-Complex Genetics (WS3)
Thursday 17th March 2016
Vorsitz: Johannes Schumacher (Bonn), Ulrike Hüffmeier (Erlangen)
Raum: Sky-Bar

10:15 - 10:30

WS3-01

Exome sequencing of European families densely affected with bipolar disorder reveals rare variants in synaptic genes contributing to disease etiology
Maaser, A. (Department of Genomics at the Life & Brain Center, Bonn, Germany)

10:30 - 10:45

WS3-02

Systematic insights into the biology of male-pattern baldness and its association with other human traits.
Heilmann-Heimbach, S. (Department of Genomics, Life&Brain Center, Bonn, Germany)

10:45 - 11:00

WS3-03

Systematic investigation of a potential role of miRNAs in the pathogenesis of male pattern baldness
Anhalt, T. (Department of Genomics, Life&Brain Center, Bonn, Germany)

11:00 - 11:15

WS3-04

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients using whole exome sequencing
Ishorst, N. (Institute of Human Genetics, University of Bonn, Bonn, Germany)

11:15 - 11:30

WS3-05

Nonsyndromic cleft lip and palate: Identification of a causal element at 13q31
Böhmer, AC. (Institute of Human Genetics, University of Bonn, Bonn, Germany)

11:30 - 11:45

WS3-06

The Role of the CAD-risk gene Zc3hc1 in Atherosclerosis and Smooth Muscle Cell Proliferation and Migration
Al-Hasani, J. (University Heart Center Lübeck, Lübeck, Germany)

 

11:45 - 13:15 Lunchtime // Industrial Exhibition
Foyer

12:00 - 13:00 Talk nach 12
Onkologie – Pathologie – Humangenetik: Somatische Mutationen – Keimbahnmutationen (in German only)
Hansesaal

Moderation: Klaus Zerres (Aachen), Harald Rieder (Düsseldorf)

Diskussionsteilnehmer:
Prof. Dr. med. Rita Schmutzler, Klinik und Poliklinik für Gynäkologie und Geburtshilfe Köln,
Zentrum Familiärer Brust- und Eierstockkrebs, Universitätsklinikum Köln;
Prof. Dr. med. Sven Perner, Direktor Pathologie des Universitätsklinikums Schleswig Holstein Campus Lübeck
und des Leibniz Forschungszentrums Borstel
Prof. Dr. med. Evelin Schröck, Institut für Klinische Genetik, Dresden

12:00 - 13:00 Lunchsymposia
Tagungsräume --> werden ausgeschildert

 

13:15 – 14:15 Symposium 3
Neurogenetics
Chairs: Gabriele Gillessen-Kaesbach (Lübeck), Jörg Epplen (Bochum)
Hansesaal

S3-01
Volker Straub, MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK
Integrated omics technologies for patients with genetic neuromuscular diseases

S3-02
Christine Klein, Institute for Neurogenetics, University Lübeck, Germany
Parkinson Syndromes

 

13:15 – 14:15 Symposium 4
DNA Repair

Chairs: Christian Kubisch (Hamburg), Frank Kaiser (Lübeck)
Wintergarten

S4-01
Andrew Jackson, MRC Human Genetics Edinburgh, Edinburgh, UK
Genome-Embedded Ribonucleotides and Genome Instability

S4-02
Björn Schumacher, CECAD, University Cologne, Köln, Germany
Systemic DNA Damage Responses in Development and Aging

 

13:15 – 14:15 Sitzung der Naturwissenschaftler
Moderation: Simone Heidemann (Kiel), Thomas Eggermann (Aachen), Ulrich Zechner (Mainz)
Sky-Bar

 

13:15 – 14:15 QW Genetische Beratung (in German only)
Moderation: Dieter Schäfer (Frankfurt)
Cutty Sark

 

14:15 - 15:15 Postersession I (ungerade Zahlen/uneven numbers) - Tea & Coffee
Posterräume --> werden ausgeschildert

15:15 – 16:45 Pro & Contra
PID - Erwartungen und Wirklichkeit (in German only)
Moderation: Gabriele Gillessen-Kaesbach (Lübeck), Klaus Zerres (Aachen)
Diskussionsteilnehmer: Prof. Dr. Andreas Gal, Vorsitzender der Ethikkommission für Präimplantationsdiagnostik bei der Ärztekammer Hamburg (PID-Kommission Nord); Prof. Dr. J.P.M. Geraedts, Leiter des einzigen Zentrums für PID in den Niederlanden in Maastrich; Uta Wagenmann, Gen-ethisches Netzwerk, Berlin
Wintergarten

15:15 – 16:45 Workshop 4
Hansesaal

15:15 - 16:45

WS4-Clinical Genetics I (WS4)
Thursday 17th March 2016
Vorsitz: Maja Hempel (Hamburg), Christiane Zweier (Erlangen)
Raum: Hansesaal

15:15 - 15:30

WS4-01

The molecular cause of arhinia
Yigit, G. (Institute of Human Genetics, University Health Services Göttingen, Göttingen, Germany)

15:30 - 15:45

WS4-02

Sequencing the GRHL3 coding region reveals rare truncating mutations and the first common susceptibility variant for nonsyndromic cleft palate
Mangold, E. (Institute of Human Genetics, University of Bonn, Bonn, Germany)

15:45 - 16:00

WS4-03

Studying the genetic basis of idiopathic short stature using whole exome sequencing
Hauer, NN. (Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany)

16:00 - 16:15

WS4-04

De novo mutations of TCF20 in individuals with intellectual disability and postnatal overgrowth
Becker, J. (Institute of Human Genetics - University of Bonn, Bonn, Germany)

16:15 - 16:30

WS4-05

Novel phenotypic- and functional aspects of heterozygous de novo mutations in GRIN2B
Platzer, K. (Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany)

16:30 - 16:45

WS4-06

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Lissewski, C. (Institute of Human Genetics, University Hospital Magdeburg, Germany)

 



15:15 – 16:45 Workshop 5

Cutty Sark

15:15 - 16:45

WS5-Monogenic Disease I (WS5)
Thursday 17th March 2016
Vorsitz: Uwe Kornak (Berlin), Hans Christian Hennies (Innsbruck)
Raum: Cutty Sark

15:15 - 15:30

WS5-01

Ehlers–Danlos syndrome periodontal-type (type VIII) is caused by altered function of complement C1 subunits C1r or C1s
Zschocke, J. (Div. of Human Genetics, Med. Univ., Innsbruck, Austria)

15:30 - 15:45

WS5-02

Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal dominant cutis laxa.
Fischer-Zirnsak, B. (Max-Planck-Institut für Molekulare Genetik, Berlin, Germany)

15:45 - 16:00

WS5-03

Bi-allelic SCYL1 mutations underlie a syndrome characterized by recurrent episodes of acute liver failure, peripheral neuropathy, cerebellar vermis atrophy, and ataxia
Schmidt, WM. (Neuromuscular Research Department, Medical University of Vienna, Austria)

16:00 - 16:15

WS5-04

Duplications and a reciprocal deletion of regulatory elements within the topological domain of NPR3 are associated with an overlapping phenotypic brachydactyly spectrum
Spielmann, M. (Max Planck Institute for Molecular Genetics, Berlin, Germany)

16:15 - 16:30

WS5-05

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Schanze, D. (Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany)

16:30 - 16:45

WS5-06

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
Moog, U. (Institute of Human Genetics, Heidelberg University, Heidelberg, Germany)



15:15 – 16:45 Workshop 6
Sky-Bar

15:15 - 16:45

WS6-Technology and Molecular Mechanisms (WS6)
Thursday 17th March 2016
Vorsitz: Alexander Hoischen (Nijmegen), Ellen Heitzer (Graz)
Raum: Sky-Bar

15:15 - 15:30

WS6-01

Effective identification of pathogenic regulatory variants in Mendelian disease
Schubach, M. (Institute for Medical and Human Genetics, Charité – Universitätsmedizin Berlin, Berlin, Germany)

15:30 - 15:45

WS6-02

Alternative Splicing in Germinal Center B-cell Derived Lymphomas: Analyses within the ICGC MMML-Seq Project
Doose, G. (Transcriptome Bioinformatics - University of Leipzig, Leipzig, Germany)

15:45 - 16:00

WS6-03

Identification of the NEK1 protein network in skeletal ciliopathies
Kessler, K. (Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen, Germany)

16:00 - 16:15

WS6-04

Missense mutations in RAB12 affect the transferrin receptor-signaling pathway
Koschmidder, E. (University of Luebeck, Luebeck, Germany)

16:15 - 16:30

WS6-05

Plastin 3, a human protective modifier is highly upregulated in iPSC-derived motoneurons in asymptomatic SMN1-deteted individuals and rescues spinal muscular atrophy in mice by restored endocytosis
Wirth, B. (Institute of Human Genetics University of Cologne, Cologne, Germany)

16:30 - 16:45

WS6-06

VarWatch – a registry of in-limbo genetic variants
Hoeppner, MP. (Christian-Albrechts-University of Kiel, Kiel, Germany)

 

16:45 - 17:00 Break / Einlass MV GfH

17:00 - 19:00 Mitgliederversammlung GfH (Membership Assembly GfH)
Hansesaal

Geselliger Abend im Radisson Blue Senator Hotel (Beginn 20:00 - 00:30)
Social Evening at the Hotel Radisson Blue Senator (start at 8:00 pm - 00:30 am)

 

 

Freitag/Friday 18/03/2016

09:00 - 09:45 Plenary Session 2:
Y. M. Dennis Lo,
Department of Chemical Pathology, Prince of Wales Hospital, Shatin, New Territories, Hong Kong
Plasma DNA as a Treasure Trove for Molecular Diagnostics

Chair: Gabriele Gillessen-Kaesbach (Lübeck)
Hansesaal

09:45 - 10:15 Coffee break // Industrial Exhibition
Foyer

10:15 – 11:15 Symposium 5
Cancer Genetics
Chairs: Reiner Siebert (Kiel), Johannes Zschocke (Innsbruck, A)
Hansesaal

S5-01
Josh Stuart, Jack Baskin School of Engineering, University of California Santa Cruz, USA
Pathway and network analysis of cancer genomes

S5-02
Jose Tubio, Wellcome Trust Sanger Centre in Hinxton, Cambridge, UK
Pan-Cancer Patterns of Somatic Retrotransposition

 

10:15 – 11:15 Symposium 6
CNVs
Chairs: Yorck Hellenbroich (Lübeck), Judith Fischer (Freiburg)
Wintergarten

S6-01
Caleb Webber, Depatment of Physiology, Anatomy and Genetics, University of Oxford
Networks of Genes, Epistasis and a Functionally-Clustered Genome

S6-02
Beverly Emanuel, Children's Hospital of Philadelphia, Philadelphia, USA
CNVs as Modifiers of the Cardiovascular Phenotype in 22q11.2 Deletion Syndrome (22q11DS)

 

10:15 – 11:15 QW Molekulargenetik (in German only)
Moderation: Dieter Gläser (Neu-Ulm)
Cutty Sark

 

11:15 - 12:15 Postersession II (gerade Zahlen / even numbers) - Tea & Coffee
Posterräume --> werden ausgeschildert

11:15 - 13:15 Mitgliederversammlung BVDH (Membership Assembly BVDH; for members only)
Hansesaal

11:45 - 13:15 Selbsthilfe und Humangenetik - Zweckehe oder Partnerschaft?
Moderation: GfH, VPAH
Wintergarten

12:15 - 13:30 Lunchtime

12:15 - 13:15 Lunchsymposia
Tagungsräume --> werden ausgeschildert

 

13:30 - 15:00 Pro & Contra
Personalisierte Medizin - Der Weg vom genetischen Befund bei multifaktoriellen Erkrankungen
hin zum klinischen Alltag: Fakt oder Fiktion?
Moderation: Christoph Rehmann-Sutter (Lübeck)

Diskussion: Markus Nöthen (Bonn), Jeanette Erdmann (Lübeck)
Cutty Sark

 

13:30 - 15:00 Workshop 7
Hansesaal

13:30 - 15:00

WS7-Clinical Genetics II (WS7)
Friday 18th March 2016
Vorsitz: Hanno Bolz (Ingelheim), Nils Rahner (Düsseldorf)
Raum: Hansesaal

13:30 - 13:45

WS7-01

Two years of preimplantation genetic diagnosis (PGD) in Germany: a single center experience from Lübeck
Hellenbroich, Y. (Institut für Humangenetik, Lübeck, Germany)

13:45 - 14:00

WS7-02

Preimplantation genetic diagnosis for female carriers of myotonic dystrophy type 1
Hehr, A. (Center for and Institute of Human Genetics, Regensburg, Germany)

14:00 - 14:15

WS7-03

Whole exome sequencing in 161 sudden infant death syndrome (SIDS) cases identifies potentially disease-associated variants in one third of our cohort
Neubauer, J. (Institute of Forensic Medicine, Zurich, Switzerland)

14:15 - 14:30

WS7-04

Targeted sequencing of 15 genes in a cohort of 216 patients with unexplained lissencephaly detects mutations in 31% of patients
Di Donato, N. (Institute for Clinical Genetics, Dresden, Germany)

14:30 - 14:45

WS7-05

TCF12 mutations in coronal craniosynostosis – spectrum and frequency
Klopocki, E. (Institute of Human Genetics, University of Würzburg, Würzburg, Germany)

14:45 - 15:00

WS7-06

The Mendeliome in Clinical Practice: Results of a Pilot Study on 95 patients with undiagnosed congenital malformation syndromes
Moosa, S. (Center for Molecular Medicine, CMMC, University of Cologne, Cologne, Germany)



13:30 - 15:00 Workshop 8
Wintergarten

13:30 - 15:00

WS8-Monogenic Disease II (WS8)
Friday 18th March 2016
Vorsitz: Gökhan Yigit (Köln), Malte Spielmann (Berlin)
Raum: Wintergarten

13:30 - 13:45

WS8-01

Mutations in HACE1 cause an autosomal-recessive neurodevelopmental disorder
Hollstein, R. (Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Germany)

13:45 - 14:00

WS8-02

Functional characterization of a novel TREM2 coding variant linked to familial Alzheimer’s disease.
Karaca, I. (Department of Psychiatry and Psychotherapy, University of Bonn, 53127, Bonn, Germany)

14:00 - 14:15

WS8-03

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome
Schossig, AS. (Division of Human Genetics Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria)

14:15 - 14:30

WS8-04

A novel multiple joint dislocation syndrome associated with a homozygous nonsense mutation in the EXOC6B gene: spondyloepimetaphyseal dysplasia with joint laxity type 2-like phenotype
Kortüm, F. (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

14:30 - 14:45

WS8-05

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)
Weber, R.G. (Hannover Medical School, Hannover, Germany)

14:45 - 15:00

WS8-06

A paternally inherited mutation in the imprinted IGF2 gene: First description in a multigenerational family with impaired growth and craniofacial dysmorphism
Zirn, B. (Genetikum Stuttgart, Genetic Counseling and Diagnostics, Stuttgart, Germany)

 


13:30 - 15:00 Workshop 9
Sky-Bar

13:30 - 15:00

WS9-Epigenetics (WS9)
Friday 18th March 2016
Vorsitz: Dietmar Lohmann (Essen), Ole Ammerpohl (Kiel)
Raum: Sky-Bar

13:30 - 13:45

WS9-01

DNA methylation patterns of cortical neurons and glia distinguish humans from chimpanzees – implications for human brain evolution
Böck, J. (Institute for Human Genetics, Julius Maximilian University, Würzburg, Germany)

13:45 - 14:00

WS9-02

Paternal age effects on sperm DNA methylation and its impact on the next generation
Atsem, Stefanie. (Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany)

14:00 - 14:15

WS9-03

The unmethylated allele of oppositely imprinted (i.e. MEST and MEG3) genes is highly susceptible to epimutations during early development and may contribute an additional layer of complexity to phenotypic variation
Haertle, L. (Institute of Human Genetics Julius Maximilian University, Würzburg, Germany)

14:15 - 14:30

WS9-04

Epigenetic dynamics of monocyte to macrophage differentiation
Leitão, E. (Institute of Human Genetics - University Hospital Essen, Essen, Germany)

14:30 - 14:45

WS9-05

Epigenetic dysregulation in the developing Down syndrome brain
El Hajj, N. (Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany)

14:45 - 15:00

WS9-06

3D nuclear topography of active and inactive regulatory sequences studied with super-resolution fluorescence microscopy
Cremer, T. (LMU Biocenter)

 

15:15 - 15:30 Closing Ceremony / GfH-Awards / Closing Remarks
Hansesaal

 

 

© Deutsche Gesellschaft für Humangenetik