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Program and Table of Contents Helpful Information……………………………………………………………………………………..…5 Industry Support……………………………………………………………………………………………...6 About Us………………………….……………………………………………………………………………...7 Conference Faculty………………………………………………………………………………………………..8 Scripps Continuing Education Annual Course Listing ……………………………………………………...….206 Thursday, March 1, 2012 7:30 a.m. Registration and Breakfast 8:15 a.m. Welcome and Opening Remarks………………………………………………………………….13 Chris Van Gorder, FACHE, President and Chief Executive Officer, Scripps Health Eric J. Topol, MD, Director, Scripps Translational Science Institute 8:30 a.m. How Did Sequencing Our Genomes Change Our Lives?.............................................................15 Joe, Retta, Noah and Alexis Beery Morning Session: Changing Medical Practice – Pharmacogenomics Moderators: Samuel Levy, PhD and Eric Topol, MD 9:00 a.m. Pharmacogenetic testing to optimize treatment of patients with coronary artery disease…….23 Matthew J. Price, MD 9:20 a.m. Exome sequencing to understand pharmacogenomics...................................................................24 Samuel Levy, PhD 9:40 a.m. Hypertension pharmacogenomics – Advances and Challenges…………………………….……25 Julie Johnson, PharmD 10:00 a.m. Break, View Exhibits and Networking 10:20 a.m. Predicting Adverse Events with Commonly Used Drugs………………………………………...26 Michael R. Hayden MB, ChB, PhD 10:40 a.m. Pharmacogenomics to optimize treatment of childhood leukemia……………………………...27 William E. Evans, PharmD 11:00 a.m. Morning Panel Discussion/Q&A Morning Session Speakers and Moderators Hot Topics in Genomic Medicine Moderators: Evan Eichler, PhD and Sarah Murray, PhD 11:25 a.m. Incorporating Genomic Medicine into the Delivery System.....................................……………29 Reed Tuckson, MD 11:50 a.m. DNA Transistors and Handheld Sequencing……………………………………………………..31 Leila Shepherd, PhD 12:15 p.m. Lunch, View Exhibits and Networking 1:00 p.m. Social Networks and Evolution……………………………………………………………………32 James Fowler 1 Program and Table of Contents continued on next page. Program and Table of Contents (continued) 1:30 p.m. Genetic Basis of Autism and Developmental Delay………………………………………………33 Evan Eichler, PhD Afternoon Session I: Changing Medical Practice – Chronic Diseases Moderators: Nicholas Schork, PhD and Bradley Patay, MD 1:50 p.m. Genomic Diagnosis of Pediatric Conditions……………………………………………………….34 Hakon Hakonarson, MD, PhD 2:15 p.m. Infrastructure for clinical genomics………………………………………………………………..35 Isaac Kohane , MD, PhD 2:40 p.m. Genes, pathways, environment and clinical implications in autoimmune diabetes……………..36 John A. Todd, FRS, PhD 3:05 p.m. Afternoon Session I Panel Discussion/Q&A Afternoon Session I Speakers and Moderators 3:25 p.m. Break, View Exhibits and Networking Afternoon Session II: Changing Medical Practice – Rare Idiopathic Diseases Moderators: Eric Topol, MD and Nicholas Schork, PhD 3:45 p.m. Personalized Medicine: Whole genome sequencing in the clinic…………………………………43 Howard J. Jacob, PhD 4:10 p.m. Exome Sequencing in Mendelian Neurodevelopmental Disorders……………………………….45 Joseph G. Gleeson, MD 4:35 p.m. Efficient detection of causative mutations for rare diseases: Rethinking clinical practice……..46 Stanley F. Nelson, MD 5:00 p.m. Whole-genome sequencing and the detection of disease-causing mutations……………….....….56 Lynn Jorde, PhD 5:25 p.m. Afternoon Session II Panel Discussion/Q&A Afternoon Session I Speakers and Moderators 5:45 p.m. Wrap Up & Adjourn 5:45 – 7:30 p.m. Thursday Evening Welcome Reception at Scripps Seaside Forum Location: 8610 Kennel Way La Jolla, California 92037 Friday, March 02, 2012 7:30 a.m. Registration and Breakfast 8:00 a.m. The Creative Destruction of Medicine…………………………………………………………….94 Eric J. Topol, MD Morning Session: New Approaches Moderators: Aravinda Chakravarti, PhD and Hakan Sakul, PhD 8:45 a.m. Understanding and Predicting Sudden Cardiac Death: The View from Genes………………..95 Aravinda Chakravarti, PhD 9:05 a.m. Revisiting Lamarck and Mendel: Transgenerational genetic effects on health and disease…..96 Joseph Nadeau, PhD 2 Program and Table of Contents continued on next page. Program and Table of Contents (continued) 9:30 a.m. Healthy vs. Unhealthy Genomes: Individual and Population Perspectives……………………106 Nicholas Schork, PhD 9:55 a.m. Clinical Development Out of Academia Based on Genetic Stratification……………………...108 Hakon Hakonarson MD, PhD 10:20 a.m. Morning Panel Discussion/Q&A Morning Session Speakers and Moderators 10:45 a.m. Break, View Exhibits and Networking Broad Perspectives Moderators: Eric Topol, MD 11:05 a.m. The Collision: What Happens When Medicine Gets Genetic?....................................................109 Matthew Herper 11:30 a.m. All Genomes Are Dysfunctional: Gene-Disrupting Variants in Healthy Individuals……...…111 Daniel MacArthur 11:55 a.m. Thinking Inside the Box - The Regulatory Science Paradox…………………………………...118 Issam Zineh, PharmD, MPH 12:20 p.m. Panel Discussion/Q&A 5th Annual Scripps Genomic Medicine Award Presentation 12:30 p.m. Lunch, View Exhibits and Networking Afternoon Session I: Changing Medical Practice – Cancer Moderators: Elaine Mardis, PhD and Jeffrey Trent, PhD 1:15 p.m. Rx/Dx co-development: the Xalkori story……………………………………………………….128 Hakan Sakul, PhD 1:40 p.m. Cancer Genomes and Personalized Medicine…………………………………………………...129 Thomas J. Hudson, MD 2:05 p.m. Using Biointelligence to Search the Cancer Genome: Knowledge Recovery Efforts to Move Towards Precision Medical Genomics (PMG)…………………………………………………..130 Jeffrey M. Trent, PhD 2:30 p.m. A Relentless Molecular Pursuit Approach to Take Out Pancreatic Cancer…………………..131 Daniel D. Von Hoff, MD 2:55 p.m. Cancer Genome Evolution………………………………………………………..………………132 Elaine R. Mardis, PhD 3:20 p.m. Afternoon Panel I Discussion/Q&A Afternoon Session I Speakers and Moderators 3:45 p.m. Break, View Exhibits and Networking Afternoon Session II: Diseases-in-a-Dish Moderators: Samuel Levy, PhD and Fred Gage, PhD 4:05 p.m. Modeling Human Brain Disease with patient specific iPS cells…………………...……………133 Fred H. Gage, PhD 3 Program and Table of Contents continued on next page. Program and Table of Contents (continued) 4:30 p.m. The RASopathies: Studying inherited human disease via iPS………………………………….167 Bruce D. Gelb, MD 4:55 p.m. Clinical Challenges of iPSC Therapy…………………………………………………………….177 Joseph C. Wu, MD, PhD 5:20 p.m. Afternoon Session II Panel Discussion/Q&A Afternoon Session II Speakers and Moderators 5:45 p.m. Wrap Up & Adjourn 4 Helpful Information Parking and Transportation during the conference There will be a looping shuttle on Thursday, Mar. 1 and Friday, Mar. 2 between The Estancia Hotel & Spa, The La Jolla Shores Hotel, Kellogg Park and Scripps Seaside Forum. The shuttle will run from 6:30 a.m. to 7:45 p.m. on Thursday and from 6:30 a.m. to 6:15 p.m. on Friday. Parking is available in the following locations: . Parking is available in the underground parking lot at The La Jolla Shores Hotel ($5/day, $14 overnight) and at Kellogg Park (free). Street parking is also available. There will be a looping shuttle on Thursday, Mar. 1 and Friday, Mar. 2 between Estancia La Jolla Hotel & Spa, La Jolla Shores Hotel, Kellogg Park and Scripps Seaside Forum. You may also park and walk to/from La Jolla Shores Hotel and Kellogg Park to Scripps Institution of Oceanography (approximately 15 minutes). UCSD Employees/Faculty/Students are encouraged to park in a UCSD parking lot and take the SIO shuttle to/from Scripps Seaside Forum. Important Note for those who park in The La Jolla Shores Hotel underground parking structure: Please see the front desk and mention you are attending the Scripps Genomic Medicine Conference in order to receive a parking pass. Thursday Evening Welcome Reception The welcome reception will take place on Thursday from 5:45 p.m. to 7:30 p.m. at Scripps Seaside Forum. Refreshments and hors d’oeuvres will be provided. The Future of Genomic Medicine Online Learning Module It is highly encouraged that conference attendees view the Scripps Genomics Primer Online Learning Module before the conference. Please Click here to access the FoGMV Online Learning Module. This component is designed to help conference attendees in three ways: . To provide online resources for furthering genomics knowledge; . To provide reference materials and tutorial guides to prepare participants for the 2 day ‘immersion’ into the field of genomics; . To make available topic-specific publications to prepare participants for the main discussion themes of the conference. Conference Syllabus The conference syllabus can be downloaded at: http://www.scripps.org/events/future-of-genomic-medicine-v Internet Access during the conference Wireless Internet is available during the conference. Upon accessing the internet you will be directed to a page that requests your email. Upon entering your information you will be registered automatically. Social Networking Visit our Scripps Health Facebook 2012 Future of Genomic Medicine IV events page at: http://on.fab.me/kQoPiX to interact with colleagues before arriving to the conference. This is a great opportunity to connect with other attendees in your specialty from all over the country. We are on Twitter! Connect with like-minded members on topics of interest and expand your professional contacts. Follow the conversation with the following hash tag: #FOGM12. Conference Evaluation Your feedback is very important! Please be sure to complete the online conference evaluation http: http://www.surveymonkey.com/s/futureofgenomicmedicineV
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