NGS：分子诊断开拓的新世界

如果使用下一代排序(NGS)平台，有可能变成以未曾有过的速度将人和细菌的DNA排序，亦能大幅度削减成本。此外，直接序列（direct sequence）法远较其他手法正确，亦与新医疗诊断技术的发展有关。今年是第2届的此学会，针对影响广泛领域的诊断技术之2个主要应用领域，采用癌的deep resequencing与感染症治疗之细菌排序，迅速发展，变成可以聆听活跃在临床面亦具重要意义的此领域最前线之生物医学领域研究人员意见和经验的宝贵机会。

第1天 | 第2天

10月12日星期三

13:00 Conference Registration

 

Sequencing For Infectious Disease
(治疗感染症的排序)

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