NGS：分子診断が開く新たな世界

次世代シーケンシング(NGS)プラットフォームを使えば、かつてないほどのスピードで人と細菌のDNAシーケンシングが可能となり、コストも大幅に削減することができます。また、ダイレクトシーケンシング法は、他の手法に比べはるかに正確であり、新たな医療診断技術の発展にもつながります。今年で2回目となるこの学会では、幅広い分野の診断技術に影響を及ぼす2つの主な応用分野として、がんのディープリシーケンシングと感染症治療のための細菌シーケンシングが取り上げられることになっており、急速な発展を遂げ、臨床面でも重要な意味を持ちつつあるこの分野の最前線で活躍している生物医学分野の研究者たちから意見や経験を聞く貴重な機会となります。

1日目 | 2日目

10月12日水曜日

13:00 Conference Registration

 

Sequencing For Infectious Disease
(感染症治療のためのシーケンシング)

14:00 Chairperson’s Remarks

14:05 Next-Generation Sequencing for Infectious Disease Surveillance - from “Base Pair to Bedside”

Dag Harmsen, M.D., Head of Research, Periodontology Department, University Hospital Münster

Next-generation sequencing (NGS) has fundamentally altered genomic research. New developments will bring NGS costs and performance down to an everybody’s technology with extreme potential for ultra fast and accurate molecular bacterial typing as it provides the ultimate whole genome information. However, the current bottleneck in analysis, i.e. bioinformatics, needs to be overcome to make successfully the transition from data to knowledge in routine infectious disease surveillance.

14:35 Adaptation of Next-Generation Sequencing for Exploration of the Malaria Epigenome

Richard Bartfai, Ph.D., Postdoctoral Fellow, Molecular Biology, Nijmegen Center for Molecular Life Sciences, Radboud University Nijmegen

Exploration of epigenetic regulatory mechanism unique to Plasmodium falciparum, the causative agent of malaria, could provide novel targets for drug development. We have developed the Linear Amplification for Deep Sequencing (LADS) method that enables preparation of highly representative sequencing libraries from the extremely AT-rich P. falciparum genome. Using this novel method we analyzed the epigenome (ChIP-seq) and transcriptome (RNA-seq) of the parasite at unprecedented depth, during multiple stages of development.

15:05 The Transcriptional Landscapes of Human Pathogenic Fungi Revealed by Next-Generation Sequencing

Kai Sohn, Ph.D., Molecular Biotechnology, Fraunhofer Institute for Interfacial Engineering and Biotechnology

Human pathogenic fungi are causing superficial infections of the skin but also life-threatening systemic diseases. To define the pathogenicity at the molecular level, information about the genomes and the corresponding transcriptomes is crucial. We applied next-generation sequencing for the qualitative annotation as well as for the quantitative analysis of the transcriptional landscapes in different Candida species that represent the most important fungal pathogens.

15:35 Refreshment Break - Networking with Sponsors

Sponsored by
16:15 Understanding Diseases and Pathways through NGS Data Analysis

Frank Schacherer, Ph.D., COO/CSO, BIOBASE GmbH
Next-Generation Sequencing enables us to take a closer look at the mutations causing inherited disease and cancer than ever before. This talk will take you through successful strategies to identify the novel mutations that may be responsible. You will learn to identify known effects, how to assess the potential effect of novel mutations in pedigree studies and in large scale case/control studies, and how to filter out irrelevant mutations.

 
16:45 Deep Sequencing as Diagnostic Tool for Highly Pathogenic Viruses
Andreas Nitsche, Ph.D., Head of Division of Highly Pathogenic Viruses, Robert Koch Institute
Today nucleic acid-based diagnostics has become the gold standard for the identification of viral and bacterial pathogens in clinical as well as in environmental samples. Because of their pronounced specificity, PCR-based techniques may often fail to detect new or emerging pathogens with differing or so far unknown genetic information. Compared to electron microscopy, with a perfect diagnostic “open view” but serious restrictions regarding the detection limit, recently metagenomic approaches based on massively parallel sequencing techniques have promised to be a more sensitive valuable tool as molecular “catch all” method. Since it is technically possible to gain sequence information of all pathogens present in a particular sample, the most challenging task is to identify the sequences of interest in the bulk of sequence data obtained by only one sequencing run. In this presentation the benefits and drawbacks of next generation sequencing as diagnostic tool will be discussed in comparison to conventional methods of virus detection.

17:15 NGS Strategies for Development of New Markers for Microbial Diagnostics

Andreas Doetsch, Helmholtz Centre for Infection Research (invited)

» PLENARY KEYNOTE SESSION 18:00 Keynote Introduction 18:05 Protein Engineering: Benefitting Therapeutic Proteins and Small Molecule Drugs Alike Andreas Plueckthun , Ph.D., Professor, Biochemical Institute, University of Zurich 18:40 Keynote Presentation to be Announced

19:15 – 21:00 CHI Networking Dinner Reception