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Tuesday, June 10

7:30 am - 6:00 pm Registration Open 

7:30 am Breakfast Workshop Bridging the Gap:  An Introduction to the Rosetta Syllego System Deepak Singh, Ph.D., Rosetta Biosoftware Large scale  genetic variation studies are poised to change the way medicine is practiced.  The advent of microarray technologies and in the near future, next-generation sequencing technologies ,  has  provided researchers and clinicians with vast amounts of data that can lead to new insights with the potential of significantly impacting human health.  These advances also  create challenges and  produce  gaps : gaps in communication across an organization and with collaborators , gaps in developing appropriate business processes , and  gaps in the type of datasets required and the ability to transform them for meaningful analysis. In this talk ,  we  discuss  some of the key components of the Syllego system and how the system not only bridges gaps today but how its design allows it to evolve with changing practices and technologies.

Sponsored by

8:15 Chairperson’s Remarks
Hakon Hakonarson, Director, Center for Applied Genomics, The Children’s Hospital of Philadelphia

8:20 Abacavir Case Study: From Biomarker Discovery to Clinical Utility
Eric H. Lai, Ph.D., Vice President, Pharmacogenetics, GlaxoSmithKline
This presentation will outline the path of a 7-year journey of a successful safety pharmacogenetics project from biomarker discovery to replication studies, prospective clinical trials and general application in clinical setting. It will highlight and compare candidate gene vs whole genome screening approaches and the changes in the scientific and regulatory landscapes in the past few years as related to the application of pharmacogenetics in pharmaceutical development.

8:50 Genetic Variation and Drug Response, Some Recent Case Studies from AstraZeneca
Neil J. Gibson, Ph.D., Team Leader, R&D Genetics, AstraZeneca Pharmaceuticals
This presentation will illustrate a classic PGx efficacy study taking a candidate gene approach with one of our products. It will also highlight a genome-wide safety study with a Phase III compound and a next-generation sequencing approach looking for mutations in microbial genomes that are linked to drug sensitivity.

9:20 Novel Approaches to Personalized Medicine and Drug Discovery in Cancer: Predicting How Patients will Respond to Cancer Drugs
Dan Theodorescu, M.D., Ph.D., Director, Paul Mellon Prostate Cancer Institute, University of Virginia Health Sciences Center
Chemo-informatics-based approaches promise to make significant advances in oncology. Two areas where such approaches have been shown useful are individualized selection of optimal anticancer agents for common human tumors (i.e. personalized medicine) and virtual screening for the discovery of novel, high-quality lead compounds for the treatment of human cancer. The use of the newly developed “Co-eXpression ExtrapolatioN” (COXEN) principle to address these areas will be discussed.

9:50 Networking Coffee Break, Poster and Exhibit Viewing

10:45 Relevance of Adrenergic Receptor Polymorphisms to Heart Failure Progression and Response to the Beta-Blocker, Bucindolol
J. David Port, Ph.D., Vice President Research & Technology, ARCA Discovery, Inc. and Professor of Medicine/Cardiology and Pharmacology, University of Colorado HSC
This presentation will focus on the relevance of two well described adrenergic receptor polymorphisms and their relevance to cardiac function and biology. In each case, there are direct correlations between the biochemical and clinical phenotype observed with each polymorphism. In particular, these polymorphisms have been shown to profoundly affect the response of heart failure patients to the beta-blocker, bucindolol, thus, constituting important biomarkers for response to this drug.

11:15 The Genetic Landscape in Pediatric Cancer and Autism: Roles of Rare and Common Copy Number Variations in Disease Susceptibility
Hakon Hakonarson, Director, Center for Applied Genomics, The Children’s Hospital of Philadelphia
Genome-wide association (GWA) studies are rapidly replacing the more traditional candidate gene studies and microsatellite-based linkage mapping approaches that have dominated the gene discovery attempts for common diseases for many years. Large-scale SNP-based association mapping studies have now become feasible and over the last two years using this technology’s dramatic discoveries of key variants involved in multiple complex diseases have been reported in the top scientific literature. This talk addresses genetic associations in pediatric cancer and in autism, demonstrating that apart from single SNP-based associations, the genetic landscape in these disorders involves both rare and common copy number variations (CNVs) that predispose to these disorders.

11:45 Genome-Wide Association Scan in Women with Systemic Lupus Erythematosus Identifies Susceptibility Variants in ITGAM, PXK, KIAA1542 and Other Loci
Timothy W. Behrens, Ph.D., Genentech (invited)

12:15 pm Close of Genotyping and Large-Scale Association Studies Conference

12:30 Luncheon Technology Workshops (Sponsorships Available) or Lunch on Your Own

Tuesday, June 10

12:00 pm Registration Open

2:00 Chairperson’s Remarks
Kevin Davies, Ph.D., Editor-in-Chief, BioIT World

2:35 Title to Be Announced
Consumer Genomics and Preventive Medicine
Kári Stefánsson, CEO, deCODE genetics
The past two years have seen a tidal wave of discoveries of variants in the sequence of the human genome that associate with the risk of common diseases such as heart attack, type 2 diabetes, prostate cancer, breast cancer and glaucoma. The risks conferred by many of these variants are large enough to warrant their use in diagnostics (DNA based predictive tests). Some of these variants have been turned into such tests and they are currently marketed through healthcare systems, ordered by physicians. Western populations are becoming increasingly concerned with health and healthy living and individuals are, in part, seizing control of their own healthcare. One of the keys to maintaining health is the understanding of what diseases one is at risk of developing. Therefore, it could be argued that reliable assessment of the risk of common diseases is an unmet need in our society. The development of consumer genomics services is an attempt to meet this need. We believe that genetic profiling that consists of the assessment of the genetic risk of a large number of common diseases will be a major force in the paradigm shift from interventional to preventive medicine.

2:55 It’s All About Me. Deal With It: A Model for Patient Centered Genomic Healthcare
Steven Murphy, M.D., CEO, Personalized Medicine, Helix Health PLLC/LLC 
Patient centered care has been a solution put forward by many insurance companies as a solution to issues as complex as patient compliance and physician workload. Education of physicians regarding genomics and molecular medicine is and will remain a daunting task. Patient Centered Genomic Care aims to place the patient at the center of all healthcare knowledge including one’s genome. Guided by a trained genomic healthcare professional, patients will be better motivated to learn about their risks and take proactive steps to prevent disease. This talk will outline the model, barriers and solutions to implementation.

3:15 Consumer Genomics: Opportunities for Genetic Self Discovery, Social Networking and Research Participation
Joanna Mountain, Ph.D., Senior Director of Research, 23andMe, Inc.
Companies such as 23andMe, Inc. now provide consumers with an unprecedented opportunity to discover a world within and to connect with one another. Although today's knowledge about the relationship between genetics and health is in its early stages, we believe the future holds the promise of far more extensive understanding and the opportunity to help make personalized medicine a reality.  Meanwhile, consumers can grow increasingly familiar with the terminology and concepts associated with genetics and genomics and participate in the research that will lead to advances in knowledge.

3:35 Technology Spotlight (Sponsorship Available)

3:50 Networking Refreshment Break, Poster and Exhibit Viewing

4:30 The Nuances and Utility of Personalized Presymptomatic Risk Assessment for Common Genetic Disorders 
Dietrich A. Stephan, Ph.D., Founder and Chief Science Officer, Navigenics
Whole genome association studies have recently been enabled by ultra-high density SNP genotyping and sequencing technologies. A multitude of DNA variant-disease association studies have been pub-lished in this space, and for a few diseases we have captured a significant percentage of the heritability to allow probabilistic risk assessment. There are a large number of assumptions and nuances that must be made and transparently communicated, including educational (individuals, counselors and physicians), ELSI, privacy, regulatory, counseling, environmental risks, amalgamation of many risk factors in a single individual, and actionability issues that must be addressed so that we accurately communicate the individual risks, the gaps in our knowledge at this time, and the changing nature of the information as epigenetic, structural variation, and biomarker monitoring eventually layer together. 

Revolution or Revelation? 
Moderator: Kevin Davies, Ph.D., Editor-in-Chief, BioIT World
For the past six months, three companies (deCODE, Navigenics, and 23andMe) have been offering the first comprehensive, whole-genome tests for personal genomics. In this interactive panel discussion, providers, subjects and commentators will discuss the early reaction to these offerings. Does the information offered by personal genomics tests live up to expectations? What can consumers learn from their own genotype? How are physicians reacting to this new source of consumer empowerment? How can participation help research in general? What are the prospects for regulation and privacy in this industry?

5:30 Close of Day

SHORT COURSE*: 6:30 – 8:30 pm (SC6) Tools to Therapies Forum Join key thought leaders to exchange ideas and address the unique opportunities that arise from the convergence of genomic sciences, healthcare, and consumers in a unique interactive forum addressing: What does it take to transform the promise of an exciting tool into the reality of a therapy? Transforming genetic markers into meaningful genetic tests? How to finance genetic medicine? What are the new opportunities and strategies for direct consumer health? Who should attend? Decision makers and experts in licensing, alliance management, business development, strategic planning, technology evaluation, technology transfer, and portfolio management; capital funding firms including venture capitalists, public & private investors, angel investors, government funding agencies, corporate governance, incubators, and technology transfer centers; entrepreneurs and executives from start-up, early stage, established small to large biotechs, pharmaceutical companies and related companies; organizations interested in potential partners or to expand their technology portfolio; lawyers, exploring the legal issues, ethicists, looking at the "bigger" picture for society; and scientists who will be the developers as well as the consumers. Speakers: DNA Perspectives – An Independent Rating System for Genetics Ryan Phelan, Ph.D., CEO & Founder, DNA Direct IP and Creating Partnerships Kristie Prinz, J.D., Founder, The Prinz Law Office Funding Gregory Bonfiglio, J.D., Managing Partner, Proteus Ventures, VC *Separate registration required.

Short Courses | Day 1 | Day 2 | Day 3 | Download Brochure