The European Society
of Human Genetics

Workshops 12-18

Workshops 12-18 - Monday, 15.00 - 16.30 hrs

Workshop outlines are published as submitted by the organisers. Note that the content of the workshop is under the sole responsibility of the respective workshop organisers.

W12. European landscape of non-invasive prenatal diagnosis

Organisers: Joris Vermeesch, Erik Iwarsson
Plenary Hall

In this workshop 5 opinion leaders will provide an overview of the status, regulation, quality control systems in place and vision on the future of non-invasive prenatal testing.

Speakers include:
- Milan Macek Czech Republic
- Koen Devriendt: Belgium
- Juan Cegudosa: Spain
- Erik Iwarsson: Sweden
- Lidewij Henneman :The Netherlands

W13. Dysmorphology 2

Organisers: Jill Clayton Smith, Sofia Douzgou
Room 112

The workshops will discuss complex undiagnosed cases with distinctive features and patients with known diagnoses which are particularly educational and demonstrate new clinical information or genomic mechanisms. Cases for presentation should be brought to the auditorium in the 30mins before the workshop starts. Places for presentation are allocated on a first come, first serve basis. Each presenter is asked to give a concise outline of their case and demonstrate the relevant features in a short (approximately 6 slides) PowerPoint presentation. The discussion of the case will then be facilitated by the workshop chairs with comments invited from experts in the audience. No photographs of slides should be taken in the session.

W14. CRISPR CAS9 tips and tricks

Organisers: Dario Lupianez, Malte Spielmann
Room 117

The CRISPR/Cas9 system has revolutionized genome editing which used to be very labor intensive and time consuming. Using combinations of single guide RNAs (sgRNAs) and DNA donors sequences it is now possible to obtain full and conditional gene knock-outs, knock-ins, large chromosomal aberrations such as deletions, inversions, and duplications in vitro and in vivo within several weeks. Furthermore CRISPR enables large scale and high-throughput interrogation of genes functions in health and diseases. CRISPR/Cas9 genome editing will potentially facilitate functional dissection of both cis-regulatory elements and trans-acting factors, as well as the interpretation of variants of uncertain significance observed in clinical sequencing.

This interactive workshop presented by Malte Spielmann and Darío G. Lupiáñez is aimed at all attendees of ESHG 2016 who already use CRISPR/Cas9 or would like to familiarize themselves with the technology.

Participants will find out how to:

- knock out your favourite gene
- multiplex to disrupt several genes in a single experiment
- create large structural variations (deletions, inversions, and duplications)
- generate knock-in mutations
- increase the efficiency of CRISPR-mediated homologous recombination
- perform saturation mutagenesis to investigate gene and enhancer function
- create mouse transgenic lines

W15. Rare Diseases and clinical trials (clinical research protocols)

Organisers: Xavier Jeunemaitre
Room 113+114

More information to follow.

WS16. Clinical Cancer Genetics

Organiser: Claude Houdayer, Maurizio Genuardi
Room 115+116

This workshop will provide a forum for ESHG meeting attendants involved in clinical cancer genetics practice. We will share and discuss peculiar cases to highlight unusual aspects of known syndromes or to gain insights and advice on unsolved issues related to diagnosis, counseling, follow up, or laboratory findings.

Part 1 - Presentations from posters (15:00-15:20)

  • The European Hereditary Tumour Group (formerly the ‘Mallorca Group’) hosts The Prospective Lynch Syndrome Database and the European Mismatch Repair cDNA Working Group and is open for all to join. I. Frayling, Cardiff
  • Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch Syndrome cancers. A. Jansen, Leiden


Part 2 - National protocols for treatment-related BRCA testing (15:20-16:30)

  • Joan Brunet (Spain)
  • Liliana Varesco (Italy)
  • Hildegunn Hoberg-Vetti (Norway)
  • Elke Holinski-Feder (Germany)
  • Nicoline Hoogerbrugge (Netherlands)
  • Claude Houdayer (France)
  • Emma Howard (UK)
  • Ulf Kristoffersson (Sweden)


Organisers: Amonida Zadissa, Helen Sparrow
Room 111

This workshop is organised and will be presented by Helen Sparrow and Amonida Zadissa, from Ensembl. It is aimed at attendees familiar with Ensembl, including the bioinformatics community.  

Ensembl is a freely available project offering one of the most comprehensive and integrated genomic resources. We currently have over 80 species, including human - our most highly accessed genome, whether in its latest assembly (GRCh38) or previous ones (GRCh37 and NCBI36). 

Ensembl annotates genes and transcripts based on biological evidence, generates gene trees (both protein coding and non-coding) and whole genome alignments. To annotate other genomic features such as SNPs, CNVs and regulatory elements, Ensembl draws on major biological projects including; 1000 Genomes, ENCODE, Roadmap Epigenomics, and Blueprint epigenome. We also integrate data from reference databases such as dbSNP, the NHGRI-EBI GWAS catalogue and OMIM. These data can be accessed through our web browser, APIs (Perl and REST), MySQL and FTP dumps, and our toolkit (e.g. our popular VEP, BioMart, BLAST/BLAT). 

After an introduction to the browser (30 mins), participants will find out how to;

- display their own data, such as reads from NGS experiments (10 mins)
- share customised browser views with collaborators (5 mins)
- annotate their own SNPs and CNVs with the VEP (20 mins)
- investigate quick alternatives to the browser (e.g BioMart and the REST API) (20 mins)

Participants can follow along with the demonstrations in this workshop if they wish, and for this purpose should bring a fully charged WiFi enabled laptop. For questions about the workshop, contact Helen Sparrow: hsparrow(at)

WS18. The clinic: From face-to-face to interface

Organiser: Francesca Forzano, Maria-Jesus Sobrido
Room 118+119

After some years of experience with telephone counseling, emerging ICT applications make it possible to inform and counsel patients, and seek novel ways for recontacting.  In view of relevant findings increasingly becoming available via NGS and limited resources for follow up, these new possibilities may solve problems such as lack of time and resources of genetic services and uncertainties regarding consent for recontacting. But how well can these technologies live up to expectations and what new problems may they bring? In this workshop we will explore expectations for and experiences with these emerging applications, such as telecounselling, video and web consultation and the ‘recontacting app’. 

Round table, including

1. Telemedicine and  web consultation  10’
Speaker: Dr Sandi Dheensa

2. The recontacting app: a practical demonstration  10’
Speaker: Tanya Halbersma-Konings

3. Patient work 2.0 15’
Speaker:  Barbara Prainsack

4. European Reference Networks: how to promote the NET of genetic services for rare disorders 15’
Speaker:  Jarek Waligora

5. Genetic counselling by telephone: practical, efficient, working for patients? 15’
Speaker: Christine Patch