30. Jahrestagung
der Deutschen Gesellschaft für Humangenetik

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

Weimar, 6.-8.3.2019

 

Mittwoch/Wednesday 06/03/2019

Vorprogramm / Pre Satellite Meetings

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

Moderation: Prof. Dr. Christian Hübner (Jena)
Großer Saal

Fragen an die Humangenetik am Beispiel der Mukoviszidose.
30 Jahre vom Gen zur Therapie

  • Dr. Kathleen Wilhelm Was erfährt man aus der Familienanamnese?
  • Dr. Anja Weise Wie kann man die DNA eines Patienten auf Mutationen untersuchen?
  • Dr. Martin Ungelenk Wie machen Forscher Gene für Erbkrankheiten ausfindig?
  • Dr. Isolde Schreyer/ Dr. Kathleen Wilhelm/ PD Dr. Jochen Mainz
    Was kann man für Patienten mit genetisch bedingten Erkrankungen tun?

Ausführliches Programm --- Anmeldung für Schulen

 

 

11:00 - 13:00 DHH-Konsortium-Meeting
Seminar 2

 

Wissenschaftliches Programm // Scientific Program

Posterabstracts - verlinkte Poster (Abstracts alpabethisch nach Titeln in den jeweiligen Themenschwerpunkten sortiert)

Abstractband mit Posternummern (SEL - Selected Presentations; Workshop Presentations;
Poster alpabethisch nach Namen sortiert)

 

ab 12:00 Registration
Foyer

 

13:00 - 14:30

Symposium 1 Genetics for the Next Generation
Chairs: Peter Wieacker (Münster), Johannes Zschocke (Innsbruck, A)
Großer Saal

13:00 - 13:30

S1-01

VermeeschJoris Vermeesch, Laboratory of Cytogenetics and Genome Research
UZ Leuven, K.U.Leuven, The Netherlands
Pre-implantation genetic diagnosis: state-of-the-art

13:30 - 14:00

S1-02

KIngsmoreStephen Kingsmore, Lauge Farnaes, Rady Children’s Institute for Genomic Medicine
San Diego, USA
Rapid whole-genome sequencing of critically ill infants

14:00 - 14:30

S1-03

GoddardKatrina Goddard, Kaiser Permanente Center for Health Research
Portland, OR, USA
Integration of personal genomics with health care

 

 

13:00 - 14:30

Symposium 2 Germline Variants and Predisposition in Cancer
Chairs: Michael Speicher (Graz, A), Christian Kubisch (Hamburg)
Kleiner Saal

13:00 - 13:30

S2-01

PfisterStefan M. Pfister, Hopp Children’s Cancer Research Center at the NCT Heidelberg (KiTZ), Heidelberg, Germany
Hereditary predisposition to childhood (brain) tumors –
an underappreciated challenge?

13:30 - 14:00

S2-02

MaherEamonn Maher, Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK
Germline Variants in Cancer

14:00 - 14:30

S2-03

ShlushLiran Shlush, Department of Immunology, Weizmann Institute of Science, Rehovot, Israel
Predicting leukemia risk in healthy individuals

 

 

13:00 - 14:30 EDU 1 "Knifflige Mutationen, die wir fast verpasst hätten"
Moderation: Bernd Wollnik (Göttingen)
Sprecher: u.a. Rami Abou Jamra (Leipzig), Peter Bauer (Rostock), Alexander Hoischen (Nijmegen),
Silke Kaulfuß (Göttingen), Dagmar Wieczorek (Düsseldorf)
Seminar 1

 

14:45 - 15:45

Selected Presentations
Chairs: Christian Hübner (Jena), Christian Kubisch (Hamburg)
Großer Saal

14:45 - 15:00

SEL-01

Do we need to test them all? - 15% of cancer patients <50 years of age carry pathogenic germline mutations: results from the nct master cohort

L. Gieldon (Core Unit für Molekulare Tumor Diagnostik CMTD, NCT Dresden, DKFZ, Heidelberg, Germany)

15:00 - 15:15

SEL-02

Biallelic LZTR1 mutations activate RAS-MAPK signaling and cause hypertrophic cardiomyopathy with abnormal calcium handling in iPSC-derived cardiomyocytes of a novel type of Noonan syndrome

G. Yigit (Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany)

15:15 - 15:30

SEL-03

Quantitative Proteomics as a complementary diagnostic tool for Mendelian disorders

R. Kopajtich (Institute of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Center Munich, Munich, Germany)

15:30 - 15:45

SEL-04

The transcriptional landscape of mammalian organogenesis at single cell resolution

M. Spielmann (Max Planck Institute for Molecular Genetics, Berlin, Germany)

 

15:45 - 17:30 Get together
Foyer

 

17:30 - 18:30 Opening Ceremony / Eröffnung durch den Tagungspräsidenten
Großer Saal

  • Begrüßung durch den Tagungspräsidenten Prof. Christian Hübner (Jena)

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

Prof. Dr. Hellmut Seemann, Präsidenten der Klassik Stiftung Weimar
Festvortrag: „Kultur und Moderne“
Hellmut Seemann wird in diesem Vortrag auf die Besonderheiten des Standorts von den Anfängen der Klassik bis zum Bauhaus eingehen, dessen 100 jähriges Jubiläum in Weimar 2019 gefeiert wird.

 

Donnerstag/Thursday 07/03/2019

08:45 - 09:30 Plenary Session 1:

Joseph Gleeson: The genetic and molecular basis of neurodevelopmental disorders
Chair: Christian Hübner (Jena)
Großer Saal

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

10:00 - 11:30 EDU 2 "Zeig mir Dein Gesicht!" – Computergestützte Syndromdiagnostik"
Moderation: Peter Krawitz (Bonn), Dagmar Wiezcorek (Düsseldorf), Jean Tori Pantel (Berlin)
Großer Saal

10:00 - 11:30 Workshop 1
Kleiner Saal

10:00 - 11:30

W1 Neurodevelopmental Disorders
Thursday 7th March 2019
Vorsitz: Abou-Jamra Rami (Leipzig), Schaaf Christian (Köln)
Raum: Kleiner Saal

10:00 - 10:15

W1-01

FBXO11 defects cause a variable neurodevelopmental disorder in humans and neuronal deficits in Drosophila melanogaster

A. Gregor (Institute of Human Genetics, Erlangen, Germany)

10:15 - 10:30

W1-02

RAC3 a novel gene for a distinct neurodevelopmental syndrome

H. Gabriel (Praxis f. Humangenetik, Tuebingen, Germany)

10:30 - 10:45

W1-03

Biallelic mutations in MADD cause a multisystemic disorder including severe developmental delay, hypotonia, and metabolic, hematological and gastrointestinal anomalies

F. Kortüm (Institute of Human Genetics; University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

10:45 - 11:00

W1-04

Activating mutations in PAK1, encoding p21-activated kinase 1, cause a neurodevelopmental disorder

FL. Harms (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

11:00 - 11:15

W1-05

De novo mutations in TAOK1 cause neurodevelopmental disorders

J. Trinh (Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany)

11:15 - 11:30

W1-06

De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies

K. Platzer (Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig 04103, Germany)

10:00 - 11:30 Workshop 2
Seminar 1

10:00 - 11:30

W2 Cancer Genetics
Thursday 7th March 2019
Vorsitz: Aretz Stefan (Bonn), Weber Ruthild (Hannover)
Raum: Seminar 1

10:00 - 10:15

W2-01

Two-hit inactivation of GPR161 leads to medullobastoma and reveals a novel tumor predisposition syndrome

M. Begemann (Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany)

10:15 - 10:30

W2-02

B-cell precursor acute lymphoblastic leukemia: Atypical chromosomal patterns of aneuploidies indicative of masked hypodiploidy

M. Schieck (Department of Human Genetics, Hannover Medical School, Hannover, Germany)

10:30 - 10:45

W2-03

Integrative genomic profiling elucidates key pathogenic pathways in primary mediastinal large B-cell lymphoma

A. Mottok (Centre for Lymphoid Cancer, BC Cancer, Vancouver, Canada)

10:45 - 11:00

W2-04

Comprehensive molecular analyses of rhabdoid tumors treated according to the consensus regimen of the multinational European Rhabdoid Registry (EU-RHAB) identifies genetic and epigenetic outcome predictors

S. Bens (Institute of Human Genetics of the University of Ulm, Ulm, Germany)

11:00 - 11:15

W2-05

cDNA analyses of the MMR genes MLH1, MSH2, MSH6, and PMS2 investigate the effect of VUS upon splicing, detect unexpected splicing defects, and find allelic losses indicating a germline defect

M. Morak (MGZ – Medical Genetics Center, Munich, Germany)

11:15 - 11:30

W2-06

TRIM28 haploinsufficiency predisposes to Wilms tumor

J. Hoyer (Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Germany)

 

10:00 - 11:30 Workshop 3
Seminar 2

10:00 - 11:30

W3 Biological Mechanisms of Diseases
Thursday 7th March 2019
Vorsitz: Spielmann Malte (Berlin), Volk Alexander (Hamburg)
Raum: Seminar 2

10:00 - 10:15

W3-01

Insights into Liechtenstein-Knorr Syndrome

HT. Bocker (Jena University Hospital, Institute of Human Genetics)

10:15 - 10:30

W3-02

NEK3 dysfunction is associated with impaired tubulin phosphorylation and causes primary microcephaly in human and mouse

T. Tuoc (Institute of Neuroanatomy, University Medical Center Göttingen, Georg-August-University, Göttingen, Germany)

10:30 - 10:45

W3-03

In vivo and in vitro characterization of microRNA-149, a candidate for orofacial clefting

R. Hollstein (Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany)

10:45 - 11:00

W3-04

Unexpected phenotypes and novel pathomechanistic insights in mouse models for autosomal recessive cutis laxa type 2A

G. Vogt (Max-Planck-Institut für molekulare Genetik, Berlin, Germany)

11:00 - 11:15

W3-05

The FOCAD tumor suppressor is associated with survival in IDH mutant glioma, targets the centrosome, impacts microtubule assembly and mitotic progression

Frank Brand (Department of Human Genetics, Hannover Medical School, Hannover, Germany)

11:15 - 11:30

W3-06

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

Fabian Brand (Institute for Genomic Statistics and Bioinformatics, Bonn, Germany)

 

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
Zwei Jahre Europäische Referenznetzwerke (ERNs) für seltene Krankheiten:
Warum die Humangenetik aktiv dabei sein muss!

Moderation: Holm Graessner (Tübingen), Thomas Eggermann (Aachen)
Großer Saal

12:00 - 13:00 Sitzung der Naturwissenschaftler
Moderation: Ulrich Zechner (Frankfurt), Jürgen Kunz (Hamburg)
Kleiner Saal

13:30 – 14:30

Symposium 3 Long-read Sequencing
Chairs: Alexander Hoischen (Nijmegen), Peter Krawitz (Bonn)
Großer Saal

13:30 - 14:00

S3-01

LomanNicholas Loman, Institute of Microbiology and Infection, School of Biosciences, University of Birmingham, Edgbaston, Birmingham, UK
Ultra-long sequencing methods aid assembly of human genomes and microbes

14:00 - 14:30

S3-02

ChaissonMark Chaisson, USC Univerity of Southern California, Los Angeles, CA, USA Multi-platform discovery of haplotype-resolved structural variation in human genomes


13:30 – 14:30

Symposium 4 Renal Diseases
Chairs: Christian Hübner (Jena), Bernd Wollnik (Göttingen)
Kleiner Saal

13:30 - 14:00

S4-01

SimonsMatias Simons, Imagine Institute, Hôpital Necker, Paris Descartes University, Paris, France
Genetics of proteinuric kidney diseases

14:00 - 14:30

S4-02

KatsanisNicholas Katsanis, Center for Human Disease Modeling, Duke University, Durham, USA
Simple complex genetics in multi-systemic kidney diseases


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

14:30 - 16:00 QW Genetische Beratung
Qualitätsmanagement Genetische Beratung – Zentrale Rahmenbedingungen und zukünftige Gestaltung
Moderation: Friedmar Kreuz (Dresden), Dieter Schäfer (Frankfurt)
Seminar 3

14:30 - 16:00 Oral History-Projekt der GfH
Zur Zeitgeschichte der Humangenetik
Moderation: Klaus Zerres (Aachen)
Seminar 4

16:00 – 17:30 Pro & Contra I
Genetische Sprechstunde in der Zukunft
Moderation: Christian Netzer (Köln)
Großer Saal

16:00 – 17:30 Workshop 4
Kleiner Saal

16:00 - 17:30

W4 Technology and Bioinformatics
Thursday 7th March 2019
Vorsitz: Heitzer Ellen (Graz), Hoffmann Per (Basel)
Raum: Kleiner Saal

16:00 - 16:15

W4-01

Exploring unknown genotype-phenotype relationship by next-generation phenotyping approaches

T.-C. Hsieh (Institute for Genome Statistics and Bioinformatics, University of Bonn, Bonn, Germany)

16:15 - 16:30

W4-02

Identification and characterization of disease-causing genes in non-5q-SMA by next-generation sequencing technology: Lessons learned from NeurOmics study

M. Karakaya (Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany)

16:30 - 16:45

W4-03

A scalable framework to identify regulatory variants at non-coding GWAS loci and its application to orofacial clefting

F. Thieme (Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany)

16:45 - 17:00

W4-04

Capturing epistatic effect with deep learning – a comparison with polygenic risk score on trait prediction from SNP-based genetic data

M.W. Yeung (Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany)

17:00 - 17:15

W4-05

Inference of tumor cell-specific transcription factor binding from cell-free DNA

P. Ulz (Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria)

17:15 - 17:30

W4-06

Cell type resolution of cis-eQTL in GTEx tissues

S. Kim-Hellmuth (Max-Planck-Institute of Psychiatry, Munich, Germany)

 

16:00 – 17:30 Workshop 5
Seminar 1

16:00 - 17:30

W5 Monogenic Diseases 1
Thursday 7th March 2019
Vorsitz: Bolz Hanno (Frankfurt), Mangold Elisabeth (Bonn)
Raum: Seminar 1

16:00 - 16:15

W5-01

Scientific yield of diagnostic exome sequencing and systematic scoring of candidate genes in neurodevelopmental disorders

R. Abou Jamra (Institute of Human Genetics of the University Medical Center Leipzig, Leipzig, Germany)

16:15 - 16:30

W5-02

The genetic landscape of mitochondrial disease: exploration of over 1500 cases by whole exome sequencing

SL. Stenton (Helmholtz Zentrum München, Neuherberg, Germany)

16:30 - 16:45

W5-03

A homozygous two exon deletion in UQCRH: matching mouse and human phenotypes

S. Vidali (Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria)

16:45 - 17:00

W5-04

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

S. Cirak (University Hospital Cologne, Department of Pediatrics, Cologne, Germany)

17:00 - 17:15

W5-05

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans

N. Haag (Institute of Human Genetics RWTH Medical Faculty, Aachen, Germany)

17:15 - 17:30

W5-06

Disruption of CLRN2, a gene encoding clarin-2, causes autosomal recessive hearing loss in humans and zebrafish

B. Vona (Department of Otorhinolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre THRC, Eberhard Karls University Tübingen, Tübingen, Germany)

 

16:00 – 17:30 Workshop 6
Seminar 2

16:00 - 17:30

W6 Complex Genetic Diseases
Thursday 7th March 2019
Vorsitz: Heilmann-Heimbach Stefanie (Bonn), Niesler Beate (Heidelberg)
Raum: Seminar 2

16:00 - 16:15

W6-01

A protective LOXL1 variant associated with a decreased risk for pseudoexfoliation syndrome implicates retinoic acid signaling in its pathophysiology

F. Pasutto (Institute of Human Genetics, University of Erlangen-Nürnberg, Erlangen, Germany)

16:15 - 16:30

W6-02

MetaXcan gene-based association analysis yields novel insights into male-pattern baldness biology

S. Heilmann-Heimbach (Institute of Human Genetics; University of Bonn; School of Medicine & University Hospital Bonn, Bonn, Germany)

16:30 - 16:45

W6-03

Integration of genetic data and functional data of human craniofacial development reveals insights into biological effects at known and novel risk loci for orofacial clefting

J. Welzenbach (Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany)

16:45 - 17:00

W6-04

Identification of functionally relevant loci to Barrett’s esophagus and esophageal adenocarcinoma: Cross-referencing of eQTL data from disease-relevant tissues with genetic association data

J. Schröder (Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany)

17:00 - 17:15

W6-05

Dissecting the polygenic component of Barrett's esophagus and esophageal adenocarcinoma

O. Borisov (Institute for Genomic Statistics and Bioinformatics, University of Bonn School of Medicine & University Hospital Bonn, Germany)

17:15 - 17:30

W6-06

Genome-wide association study identifies 30 loci associated with bipolar disorder

AJ. Forstner (Centre for Human Genetics; University of Marburg, Marburg, Germany)

 

17:30 - 17:45 Einlass MV GfH

17:45 - 19:15 Mitgliederversammlung GfH (Membership Assembly GfH)
Kleiner Saal

Geselliger Abend / Social Evening
Beginn 20:15 - 01:00 //
Start at 8:15 pm - 01:00 am
Großer Saal


 

 

Freitag/Friday 08/03/2019

08:45 - 09:30 Plenary Session 2:

Leslie Biesecker: Genetic mosaicism in human diseases
Chair: Christian Hübner (Jena)
Großer Saal

 

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

 

10:00 – 11:00

Symposium 5 3D Genome Architecture
Chairs: Eva Klopocki (Würzburg), Anja Weise (Jena)
Großer Saal

10:00 - 10:30

S5-01

ViselAxel Visel, Lawrence Berkeley National Laboratory, U.S. Department of Energy Joint Genome Institute, Berkeley, California, USA
Enhancers and Genes - Insights into a Complicated Relationship

10:30 - 11:00

S5-02

Erez Liebermann AidenErez Lieberman Aiden, Center for Genome Architecture, Baylor College of Medicine & Rice, Houston, Texas, USA
A 3D Code in the Human Genome

 

 

10:00 – 11:00

Symposium 6 Therapy of Genetic Diseases
Chairs: Christiane Zweier (Erlangen-Nürnberg), Johannes Schumacher (Marburg)
Kleiner Saal

10:00 - 10:30

S6-01

Aartsma-RusAnnemieke Aartsma-Rus, Leiden University Medical Center, Leiden, the Netherlands
Development of antisense-mediated exon skipping for Duchenne:
It takes more than an antisense oligonucleotide

10:30 - 11:00

S6-02

De LucaLaura De Rosa, Centre for Regenerative Medicine “Stefano Ferrari”, University of Modena and Reggio Emilia, Modena, Italy
Regeneration of the epidermis in epidermolysis bullosa using transgenic stem cells

 

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

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

12:30 – 13:30 QW Leitlinien und Ringversuche
Dieser Workshop entfällt!

Stattdessen findet im gleichen Raum die Sitzung der GfH-Leitlinienkommission statt (geschlossene Sitzung)
Großer Saal

12:30 - 13:30 Informationen zu Weiterbildung und GfH-Juniorakademie
Moderation: Markus M. Nöthen (Bonn)
Kleiner Saal

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

 

13:45 - 15:15 Pro & Contra II "Gentests bei multifaktoriellen Erkrankungen"
Moderation: Johannes Schumacher (Marburg)
Sprecher: Prof. Dr. Markus Nöthen, Institut für Humangenetik, Universitätsklinikum Bonn;
Prof. Dr. Michael Krawczak, Institut für Medizinische Informatik und Statistik, Universitätsklinikum Schleswig-Holstein
Großer Saal

 

13:45 - 15:15 Workshop 7
Kleiner Saal

13:45 - 15:15

W7 Modelling Neurogenetic diseases
Friday 8th March 2019
Vorsitz: Rosenberger Georg (Hamburg), Nguyen Hoa Huu Phuc (Tübingen)
Raum: Kleiner Saal

13:45 - 14:00

W7-01

A Genetic Model of Hereditary Spastic Paraplegia (SPG15/Spastizin) Reveals Myelination Defects in Adult Zebrafish

R. Dosch (Insitute of Human Genetics, Göttingen, Germany)

14:00 - 14:15

W7-02

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex 5

M. Khundadze (Institute of Human Genetics, University Hospital Jena, Jena, Germany)

14:15 - 14:30

W7-03

Modelling FOXP1-associated autism in the mouse reveals functional defects in brain and gut

H. Fröhlich (Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany)

14:30 - 14:45

W7-04

Inhibition of histone deacetylation improves Birk-Barel intellectual disability dysmorphism syndrome in mice

A. Cooper (Institute of Human Genetics, Mainz, Germany)

14:45 - 15:00

W7-05

A screen for transcriptional and genetic interactions of genes associated with neurodevelopmental disorders reveals common transcriptional targets and genetic interactions between Ube3a and Mef2 in Drosophila melanogaster

C. Zweier (Institute of Human Genetics, Erlangen, Germany)

15:00 - 15:15

W7-06

Baraitser Winter cerebrofrontofacial syndrome patient iPSC-derived cerebral organoids show abnormal neuronal development

N. Di Donato (Institute for Clinical Genetics, TU Dresden, Dresden, Germany)

 

13:45 - 15:15 Workshop 8
Seminar 1

13:45 - 15:15

W8 Monogenic Diseases 2
Friday 8th March 2019
Vorsitz: Küchler Alma (Essen), Zechner Ulrich (Frankfurt)
Raum: Seminar 1

13:45 - 14:00

W8-01

CAPZB-a potential key player in cardiac development and congenital heart defects

AK. Kahlert (Institute for Clinical Genetics, Dresden, Germany)

14:00 - 14:15

W8-02

Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal recessive hypotrichosis simplex

R.C. Betz (Institute of Human Genetics, Bonn, Germany)

14:15 - 14:30

W8-03

The role of NARF, a novel progeria-associated gene in aging processes

L. Smorag (Institute of Human Genetics, Goettingen, Germany)

14:30 - 14:45

W8-04

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

G. Yigit (Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany)

14:45 - 15:00

W8-05

The Homozygous Variant c.797G>A/p.(Cys266Tyr) in PISD is Associated with a Spondyloepimetaphyseal Dysplasia with Large Epiphyses and Disturbed Mitochondrial Function

L. von Elsner (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany)

15:00 - 15:15

W8-06

Rare deleterious heterozygous GDF6 variants in patients with renal anomalies

H. Martens (Department of Human Genetics, Hannover Medical School, Hannover, Germany)

 

13:45 - 15:15 Workshop 9
Seminar 2

13:45 - 15:15

W9 Clinical Genetics
Friday 8th March 2019
Vorsitz: Ehmke Nadja (Berlin), Redler Silke (Düsseldorf)
Raum: Seminar 2

13:45 - 14:00

W9-01

Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing

Anita. Rauch (Institute of Medical Genetics, University of Zurich, Zurich, Switzerland)

14:00 - 14:15

W9-02

Results of preimplantation genetic diagnosis on blastocysts for monogenic disorders at our PGD center in Regensburg

A. Hehr (Center for Human Genetics, Regensburg, Germany)

14:15 - 14:30

W9-03

Additional genomic findings identified in 31 cardiovascular genes among 2347 diagnostic exomes

E. Mastantuono (Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany)

14:30 - 14:45

W9-04

Exome sequencing uncovers multilocus genomic variation and unexpected molecular heterogenety in patients with retinal degeneration and hearing impairment

P. Bahena-Carbajal (University of Würzburg, Würzburg, Germany)

14:45 - 15:00

W9-05

Mutations in KYNU cause Catel-Manzke-like syndrome

N. Ehmke (Max Planck Institute for Molecular Genetics, Berlin, Germany)

15:00 - 15:15

W9-06

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

NC. Bramswig (Institut für Humangenetik, Essen, Germany)

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

© Deutsche Gesellschaft für Humangenetik