Track 2 : 基因解析、生物标靶、标的特定等情报技术的利用

Informatics for Genome Analysis, Biomarkers, and Target Discovery

个人基因解析用: 人类由来基因的导航工具

The Human Reference Genome, published in September 2007 by the J. Craig Venter Institute, is the first high quality diploid genome of a human. We will describe the web based analysis tools developed for navigating the diploid reference genome, and look forward to an era where hundreds of individual human genome sequences will be available.

Saul Kravitz, Ph.D., Director, Software Engineering, J. Craig Venter Institute

实施阶段(stage)分类疗法时基因解析的利用

Genomic patterns have the potential to reveal the progression of host responses during illness and help to pinpoint early indicators of tissue involvement or organ failure. In combination with limited proteomics, these findings can be used to identify markers that will permit therapeutic efforts to be focused to divert impending serious outcomes. Our studies using a systems approach to integrate clinical, physiological, -omics and mathematical modeling have revealed stages of illness progression during which time certain standard therapies may no longer be effective, yet they also reveal other therapeutic strategies. The aim is to identify sets of biomarkers that could be rapidly determined for near-real-time assessment of patient status.

Marti Jett, Ph.D., Chief, Department of Molecular Pathology, Walter Reed Army Institute of Research

上位性(epistasis)和遗传基因途径复合的成果

Evaluating the complex health outcomes of common diseases and identifying the genetic and genomic factors that determine effectiveness and risks of a drug for a particular patient or group of patients is crucial to guide development, assist with dosing, and avoid disproportionate restrictions or even unwarranted withdrawal. Many of the statistical methods currently used, however, are based on the (generalized) linear model and, thus, not well suited to comprehensively analyze data with different, non-linear scales (binary, ordinal, and quantitative). The talk will explore how new statistical approaches, enabled by novel informatics tools, facilitate innovative uses of personalized medicine.

Knut Wittkowski, Ph.D., D.Sc., Director, Biostatistics, Epidemiology, and Research Design, Center for Clinical and Translational Science, The Rockefeller University

异种移植片的DNA干渉疗法中的基因反应评价

This discussion provides key insights into the development of an emerging DNA-based potential oncology treatment regime utilizing therapeutic oligonucleotides, leveraging widely-available bio-IT tools and technologies. Methods and technologies for the use of gene expression profiling to identify the molecular impact of DNAi therapies on human Prostate cancer xenografts will be discussed. This case study outlines how potential biomarkers for assessing DNAi therapy efficacy in future preclinical and clinical studies, as well as how data illuminating a specific DNAi drug's mechanism of action was generated. Given enormous recent interest in RNAi-based potential therapeutics, this talk will discuss and contrast the DNAi approach.

Richard Gill, Ph.D., President and Chief Executive Officer, ProNAi Therapeutics, Inc.

机关内的复制数的差异分析和通报系统

Array CGH and SNP arrays become widely accepted for diagnostics of many diseases and for development of personalized medicine. Availability of terabytes of public array CGH datasets outside institutions and accumulation of proprietary Copy Number Variation (CNV) data inside institutions calls for efficient and robust IT systems to manage and analyze the data. We would like to highlight major challenges in analyzing CNV profiles in the framework of very large high-resolution datasets and in presence of various biological factors. We would like to demonstrate our approach to solving such problems as cross-platform array data compatibility, seamless integration with publicly available data sources (GEO, ArrayExpress etc), data management for accumulated CNV and expression profiles and data fusion for very large aberration datasets.

Anton Petrov, Ph.D., Director, Cytogenetics, infoQuant, Ltd.

生物学的理解: 生物标靶的特定和合适性确认用之多模式互联网路

The project involved a multi-party collaboration including federal, corporate biotechnology and informatics software institutions applying biotechnology and information technology to data integration, process management and biomarker activity modeling for diagnostics. This talk will demonstrate how semantic network tools can be successfully applied to complex multi-modal data environments to qualify and validate biomarkers and to gain insights on biological functions which can be used in modeling system乫s processes more accurately.

Alan Higgins, Ph.D., Vice President, Preclinical Development, Viamet Pharmaceuticals

临床用干细胞制品的分子剖析

Production of adult stem cells for clinical use requires extensive safety testing, and demonstration that biological potency is retained over significant population doublings in expansion. We have utilized chromosomal SNP analysis to augment karyotypic stability measurements, and transcriptional profiling and gene methylation analysis to demonstrate equivalency of early and late expansion products. Use of differential profiling strategies has allowed discovery of novel marker sets which distinguish primitive from more mature adult stem cell types.

Robert Deans, Senior Vice President, Regenerative Medicine, Athersys, Inc.

微阵列（Microarray）: 从实验室到现场

Functional genomics and proteomics approaches have rapidly evolved over the last years and have provided the basis for groundbreaking discoveries in basic and clinical research. As the technologies become more mature and validated, bench-to-bedside clinical applications rapidly emerge. Our focus has been to identify gene signatures in patients with various types of cancer for early detection, cancer progression, metastasis, survival as well as resistance or sensitivity to therapy. We have developed novel bioinformatics approaches for biomarker discovery and individualized gene expression analysis that are enhancing the identification of aberrant signaling pathways in individual patients and clinical application of microarray data for patient stratification and management. Examples of microarray and bioinformatics approaches and their potential clinical applications in renal, prostate and breast cancer will be presented together with the implementation of the new fully automatized Affymetrix platform for high throughput 96 well microarray analysis.

Towia Libermann, Ph.D., Associate Professor of Medicine, Medicine, Beth Israel Deaconess Medical Center