ESHG 2016 - May 21-24, Barcelona, Spain

Sunday 22nd May, 11:15–12:45, Room 212


  • Janne Strand PhD, Emma Lundman PhD, Asbjørg Stray-Pedersen MD-PHD, National Unit for Newborn Screening, Consultant at Norwegian National Newborn Screening, Norway
    Second tier NGS of Newborn screening dry blood spot samples for rapid detection of molecular cause of severe and treatable congenital disorders
  • Dr. Stephen Jackson, Thermo Fisher Product Applications, California, USA
    Sanger sequencing using Ion AmpliSeq™ primers and libraries
  • Carmen RubioŠ PhD, IGENOMIX, Spain
    Detection of chromosomal abnormalities in early human embryos by next generation sequencing
  • Dr. Beatriz Bellosillo Hospital del Mar, Barcelona, Spain
    Study of tumor heterogeneity on cfDNA from lung cancer samples using the QuantStudio 3D Digital PCR System
  • Dr. Toinette Hartshorne, Thermo Fisher Scientific R&D, San Francisco, USA
    New flexible solutions for high throughput genotyping of CFTR mutations


We will discuss how targeted gene panels are being increasingly used as a first tier discovery approach for germline and somatic variant detection, with new tools to make it easier to verify mutations discovered by next generation sequencing data with Sanger sequencing. For reproductive research applications, you will be able to discover how one lab has successfully set up simultaneous detection of aneuploidy and inherited point mutations in single cells taken from blastocysts.

We will also present new solutions for liquid biopsy applications, present you with the new flexible screening solutions for genotyping of CFTR mutations and enabling functional understanding of mutations using qPCR with CRISPR technology.

Spaces are limited so reserve your seat now by completing the form below.

Sunday 22nd May, 15:00–16:30, Room 132

Speaker: Jason Carte, Staff Scientist Molecular Biology, Thermo Fisher Scientific, Carlsbad, US

CRISPR-Cas9 systems provide a platform for high efficiency genome editing that are enabling innovative applications of cell engineering. We have developed robust tools and protocols to successfully use CRISPR-Cas9 including:

  • Tools for designing and making gRNA
  • Delivery to a large variety of cells including iPSCs and ESCs using lipid-mediated transfection or electroporation
  • Optimised protocols for efficient editing by knock-out and knock-in
  • Lentiviral and gRNA libraries
  • Cell Models

Taken together, we present a streamlined cell engineering workflow that enables gRNA design to analysis of edited cells in as little as four days and results in highly efficient genome modulation in hard-to-transfect cells. The reagent preparation and delivery to cells is amendable to high throughput, multiplexed genome-wide cell engineering.

Spaces are limited so reserve your seat now by completing the form below.

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 Rapid and highly efficient cell engineering via CRISPR-Cas9
 Latest tools for the discovery and understanding of disease-causing mutations
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