2017 Scientific Spotlight Sessions
These sessions are intended to provide an in-depth review on specific scientific topics. This year, speakers will discuss current challenges and controversies in two exciting topics, addressing the current state of knowledge, translational and clinical applications, and future directions.
Each 90-minute session will be presented once in a small-venue format on either Sunday or Monday and will include ample time for audience questions and participation. These sessions are restricted to medical and research professionals only; no businesspersons or media will be admitted.
Beyond Sequencing: Emerging Tools for Analysis of Multi-Omic Genomic Data in Acquired and Inherited Hematologic Disease
Sunday, December 10, 2017, 4:30 p.m. - 6:00 p.m.
Please click here to review this session.
Georgia World Congress Center, Bldg A- Lvl 4- A411-A412
Costs of next generation sequencing (NGS) have plummeted, enhancing the scale and scope of genomic research. However, it has become clear that the NGS workhorse requires novel and creative analytic tools, integration of multi-omic data sets, and functional characterization of putative causal variants to better understand human disease and its optimal prevention and management. This session will feature presentations from investigators who have made major contributions to the functional genomics of acquired and inherited hematologic disease.
Dr. Jinghui Zhang will discuss analytical approaches for distinguishing a driver variant from a passenger using cancer genomic and transcriptomic sequencing data. Somatic variants that drive tumorigenesis are important biomarkers for precision oncology. Dr. Zhang will describe statistical approaches for assessing mutation enrichment. She will highlight the value of whole genome sequencing and integrative analysis of genetic variations and the transcriptome for discovery of non-coding driver mutations, as well as characterization of variant pathogenicity by data mining. Dr. Zhang will provide examples to demonstrate the power of these approaches for research discovery and real-time clinical application.
Dr. Ernest Turro will discuss statistical and genomic approaches in rare disease research. He will describe recently developed methods that address statistical challenges of identifying causative associations in rare diseases, including power issues, phenotypic heterogeneity, and unknown modes of inheritance. Dr. Turro will describe how cell-specific genomic assays of patient and control samples allow researchers to constrain the large hypothesis space explored by unbiased genome-wide analyses and permit construction of a focused map of the most functionally important coding and regulatory loci, enabling an efficient identification of pathogenic variants. He will demonstrate the value of integrating transcriptomic (RNA-seq) and epigenomic (ChIP-seq) profiling of cell types pertinent to hereditary bleeding and platelet disorders.
Paul F. Bray, MD
University of Utah
Salt Lake City, UT
Jinghui Zhang, PhD
St. Jude Children's Research Hospital
Finding Driver Variants in Leukemia Genomic Datasets
Ernest Turro, PhD
back to top
University of Cambridge
Cambridge, United Kingdom
Statistical and Genomic Approaches in Rare Disease Research
The Impact of the Microbiome on the Hematologic System: Thrombosis and Graft-Versus-Host Disease
Monday, December 11, 2017, 2:45 p.m. - 4:15 p.m.Please click here to review the session.
Georgia World Congress Center, Bldg B- Lvl 2- B211-B212
Humans co-exist with trillions of microorganisms, or microbiome. Alterations in the microbiome are associated with several diseases of the hematopoietic system and thrombosis. This session will focus on two recent and compelling mechanistic translational studies that investigate the role of microbial metabolites in health.
Dr. Stanley Hazen will discuss new evidence linking gut microbiota and the trimethylamine N-oxide (TMAO) pathway to platelet hyper-responsiveness and thrombosis potential in vivo. Data shown will span from human clinical association studies to mechanistic studies employing microbial transplantation in germ free mice, demonstrating transmission of diet-dependent platelet hyper-responsiveness and in vivo thrombosis potential. In addition, studies showing use of small molecule non-lethal microbial enzyme inhibitors will be discussed as a new therapeutic approach for the treatment of atherothrombotic heart disease and reduced thrombosis potential without increased bleeding, a limitation of existing anti-platelet therapeutics.
Dr. Pavan Reddy will discuss the role of changes in the gastrointestinal tract microbiome and the related changes in their metabolites in experimental graft-versus-host disease (GVHD). He will discuss the role of microbiome-derived short-chain fatty acids and their effect on GVHD. The mechanisms that are used by the short-chain fatty acids in mitigating GVHD will be presented. In this context, the concept of target tissue tolerance to alloreactive T cell-mediated damage will be discussed. Strategies that can be potentially used for clinical translation of these experimental data will also be discussed.
Ami S. Bhatt, MD, PhD
Stanley L. Hazen, MD, PhD
Gut Microbes, Platelet Function and Thrombosis Risk
Pavan Reddy, MD
back to top
University of Michigan Medical Center
Ann Arbor, MI
Microbiome Metabolites Regulate Graft-Versus-Host Disease