Navigation
banner

Genomics & Big Data Summit

2018-04-192018-04-262018-03-07
EARLY BIRD DISCOUNT! Register by Apr 26, 2018 to receive 10% off your registration!
Or Register 3 for the price of 2 with the coupon code rcdvb!


ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
Day 1 - Wednesday, June 6, 2018
4:00
Registration Opens
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
5:00
Opening Remarks by GTCbio
1
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=parallelprlval=0Array ( [6388] => 3 )
Focus Group Discussions – Part I (Challenges and Opportunities)

Array ( [10133] => Array ( [sheduleid] => 10133 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => sessiontype [prev] => 1528305000 [next] => 1528311600 ) [10992] => Array ( [sheduleid] => 10992 [new_session] => 1 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528305000 [next] => 1528311600 ) [10994] => Array ( [sheduleid] => 10994 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528305000 [next] => 1528311600 ) )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
7:00
Day 1 Concludes
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
Day 2 - Thursday, June 7, 2018
 
7:00
Continental Breakfast & Registration
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
10:00
Morning Networking Break
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
Next Generation Sequencing
Current and Emerging Sequencing Technologies

10:30
AI and Population Genomics to Understand Genetic Disease
 
Serafim  Batzoglou
Serafim Batzoglou
VP of Applied and Computational Genomics
Illumina
About Speaker: Dr. Batzoglou received his PhD in Computer Science from MIT in 2000, joined Stanford University in 2001, where he was a Professor of Computer Science and Biomedical Data Sciences until he joined Illumina at 2016. His work at Stanford and at Illumina ... Read Full Bio 
 
 
Serafim  Batzoglou
Serafim Batzoglou
VP of Applied and Computational Genomics
Illumina
 
About Speaker:

Dr. Batzoglou received his PhD in Computer Science from MIT in 2000, joined Stanford University in 2001, where he was a Professor of Computer Science and Biomedical Data Sciences until he joined Illumina at 2016. His work at Stanford and at Illumina has focused on the application of algorithms and machine learning to genome biology and technology.

 
Abstract: The contribution of the genome to gen...Read More 

The contribution of the genome to genetic disease is to-date largely uncharacterized. Only a small fraction of the population is able to get actionable clinical information from a sequenced genome. However, the role of genetics to disease is large, and understanding of that role will improve clinical diagnosis, prevention and treatment. In this talk, I will describe our research and initiatives in the study of large cohorts of patients with genetic disease, and application of AI to link causal deleterious alleles with disease phenotypes.

 Read Less
Big Data Bioinformatics
Big Data Collection, Curation and Sharing

10:30
Integrating Public and Private 'Omics Data to Study Stem Cell Systems
 
Terry Gaasterland
Terry Gaasterland
Professor and Director of Scripps Genome Center
UCSD
About Speaker: Dr. Gaasterland leads a research program aimed to develop and apply methods to identify genes and the impact of their genetic and evolutionary variation on regulation of transcription and on protein domain structure and function.  Dr. Gaasterland ha... Read Full Bio 
 
 
Terry Gaasterland
Terry Gaasterland
Professor and Director of Scripps Genome Center
UCSD
 
About Speaker:

Dr. Gaasterland leads a research program aimed to develop and apply methods to identify genes and the impact of their genetic and evolutionary variation on regulation of transcription and on protein domain structure and function.  Dr. Gaasterland has extensive experience with microbial genome sequencing and annotation, use of RNA-seq data to identify genes in assembled genomes from novel organisms, software tools to detect horizontally transferred genes in microbes, the management and analysis of large next-generation high-throughput sequencing datasets, and the sequencing and analysis of marine microbial, eukaryotic, and human genomes. Accomplishments in these areas as well as her early career work in deductive databases is reflected in over 100 refereed publications. Dr. Gaasterland trained as a computer scientist with emphasis in databases, automated reasoning and reasoning with uncertain information. With a Department of Energy postdoctoral fellowship, she transitioned from pure computer science into the application of methods in databases and artificial intelligence to the interpretation and analysis of genomic sequence and gene expression data. Since receiving the Presidential Early Career Award in Science and Engineering (PECASE) in 2000, she has been continuously funded by the National Science Foundation to develop and use methods in computational genomics, and has participated as PI or co-PI on a series of biomedical grants from the NIH. She is PI of NIH/NEI awards to sequence and analyze variation in protein coding exons genome-wide for 400 primary open angle glaucoma cases, as a member of the NEIGHBOR Consortium at the Massachusetts Eye and Ear Institute and the NHGRI Medical Sequencing program.

 
Abstract: Stem cells balance the maintenance of...Read More 

Stem cells balance the maintenance of pleuripotency and readiness to differentiate. Upon initiation of differentiation, they must be ready to proceed along a multiplicity of fates.  Conflicting signals between states must be regulated during transitions, and this regulation may be critical to completing the transition. Wnt signaling governs both maintenance of pleuripotency (at low doses) and differentiation (at higher doses) in stem cells.  Our recently reported discovery and characterization of a new, essential regulator of the Wnt signaling pathway provided a missing piece in how stem cells initiate differentiation. Integration of time series RNA-seq data, ChIP-seq data, and genome-editing in WNT3a-treated human embryonic stem cells revealed a new transcription factor that regulates Wnt-response by displacing a ubiquitous transcription factor to repress gene expression.

 Read Less
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
10:55
Networks of Interacting Germline and Somatic Variants Drive Tumor Etiology, Progression, and Response
 
Kenneth Buetow
Kenneth Buetow
Director, Computational Sciences & Informatics
Arizona State University
About Speaker: Dr. Ken Buetow is a human genetics and genomics researcher who leverages computational tools to understand complex traits such as cancer, liver disease, and obesity. Dr. Buetow currently serves as Director of Computational Sciences and Informatics pr... Read Full Bio 
 
 
Kenneth Buetow
Kenneth Buetow
Director, Computational Sciences & Informatics
Arizona State University
 
About Speaker:

Dr. Ken Buetow is a human genetics and genomics researcher who leverages computational tools to understand complex traits such as cancer, liver disease, and obesity. Dr. Buetow currently serves as Director of Computational Sciences and Informatics program for Complex Adaptive Systems at Arizona State University (CAS@ASU), is a professor in the School of Life Sciences in ASU's College of Liberal Arts and Sciences; is a Core Faculty, in ASU’s Center for Evolution and Medicine; and is Director of Bioinformatics and Data Management for the National Biomarker Development Alliance. Dr. Buetow previously served as the founding Director of the Center for Biomedical Informatics and Information Technology within the National Institutes of Health’s National Cancer Institute (NCI).

10:55
Unlocking the Value of Real World / Big Data for Life Sciences Research – Experiences from a Federated Network Approach in Europe
 
Bart  Vannieuwenhuyse
Bart Vannieuwenhuyse
Senior Director, Health Information Sciences
Janssen R&D
About Speaker: ... Read Full Bio 
 
 
Bart  Vannieuwenhuyse
Bart Vannieuwenhuyse
Senior Director, Health Information Sciences
Janssen R&D
 
About Speaker:
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
11:20
Democratization of the Genome
 
William Lee
William Lee
Vice President of Bioinformatics
Helix
About Speaker: Will joined Helix at the beginning and has helped build up their world-class clinical sequencing operation and consumer genomics platform. He trained in Genetics and Computer Science at Stanford, completed his postdoctoral training at Genentech, and ... Read Full Bio 
 
 
William Lee
William Lee
Vice President of Bioinformatics
Helix
 
About Speaker:

Will joined Helix at the beginning and has helped build up their world-class clinical sequencing operation and consumer genomics platform. He trained in Genetics and Computer Science at Stanford, completed his postdoctoral training at Genentech, and was previously leveraging genomic technologies for translational cancer applications and personalized medicine at Memorial Sloan Kettering Cancer Center.

 
Abstract: The cost of genome sequencing has bee...Read More 

The cost of genome sequencing has been rapidly decreasing for more than a decade now, but the data has primarily been in the hands of researchers and, more recently, clinicians. Putting the data in the hands of individuals and developers will accelerate innovation and empower people to improve their lives with knowledge of their genomes. We will discuss the approach that Helix has taken to enable next-generation sequencing at a consumer scale and the possibilities that widely accessible genomic data will enable.

 Read Less
11:20
Integrated Content, Analytics and Database Approaches to Improved Data Interpretation and Genomics-guided Precision Medicine
 
Sean Scott
Sean Scott
Chief Business Officer & VP of Market Development
QIAGEN Bioinformatics
About Speaker: Sean P. Scott is the Chief Business Officer and VP, Market Development for QIAGEN’s Clinical Genomics and Bioinformatics business area. In this role Sean leads QIAGEN’s efforts to identify, develop and commercialize dry lab solutions with molecul... Read Full Bio 
 
 
Sean Scott
Sean Scott
Chief Business Officer & VP of Market Development
QIAGEN Bioinformatics
 
About Speaker:

Sean P. Scott is the Chief Business Officer and VP, Market Development for QIAGEN’s Clinical Genomics and Bioinformatics business area. In this role Sean leads QIAGEN’s efforts to identify, develop and commercialize dry lab solutions with molecular diagnostics and molecular pathology testing laboratories to design, develop and scale NGS-based genetic tests. Sean recently led the development of QIAGEN new Clinical Insights decision support platform for screening, diagnostic, theranostic and prognostic testing across inherited-germline and somatic indications. Sean joined QIAGEN in 2013 through QIAGEN’s acquisition of Ingenuity Systems where he was Ingenuity’s SVP, Global Commercial Operations and SVP, Corporate Development.  Sean has spent the past decade working with Pharma and Clinical customers on their challenges associated with the interpretation of genomics data and integrated genomics data into precision medicine based practices.

 
Abstract: During the talk Sean will provide an ...Read More 

During the talk Sean will provide an overview and introduction to QIAGEN’s approach to enabling platform-, assay- and pipeline-agnostic sample to insight workflow solutions and interpretation capabilities through the application of content, content-aware analytics, and reference data to provide more effective clinical decision support solutions and more insightful and actionable physician reporting. Sean will also speak to the potential for the integration of genomics diagnostics testing results with patients-like-me clinical outcomes data at the point-of-care to enable genomics guided clinical decision support.

 Read Less
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
11:45
National Cancer Institute's Proteomic Data Commons - Democratizing Access to Cancer Proteomic Data and Providing a Sustainable Compute Environment to the Research Community
 
Ratna Thangudu
Ratna Thangudu
Project Manager
ESAC Inc.
About Speaker: Dr Thangudu is the Project Manager for the NCI's Proteomic Data Commons. He has also been supporting the NCI's Clinical Proteomic Tumor Analysis Consortium (CPTAC)'s data coordinating center during the phase II and the ongoing phase III efforts. He a... Read Full Bio 
 
 
Ratna Thangudu
Ratna Thangudu
Project Manager
ESAC Inc.
 
About Speaker:

Dr Thangudu is the Project Manager for the NCI's Proteomic Data Commons. He has also been supporting the NCI's Clinical Proteomic Tumor Analysis Consortium (CPTAC)'s data coordinating center during the phase II and the ongoing phase III efforts. He also provided subject matter expertise to the NIH BD2K Standards Coordinating Center.

 
Abstract: Summary: The National Cancer Institut...Read More 

Summary: The National Cancer Institute (NCI) vision for a Cancer Research Data Commons (CRDC) brings together multidisciplinary digital data knowledge bases and informatics resources. The Proteomic Data Commons (PDC) serves as the proteomic arm to democratize access to data obtained from tumors and provide a sustainable compute environment that leverages all omics data available from the larger CRDC ecosystem. Towards this end ESAC, Inc and University of Washington (Seattle) have come together to design a modern, expandable and standards compliant informatics framework to make raw and processed proteomic mass spectrometry data broadly accessible and also facilitate a robust and reproducible analyses platform. In this talk we will present the design concepts for PDC and how it will integrate with the NCI CRDC framework.

Benefits: The Proteomic Data Commons (PDC) stems from the 2016, The Beau Biden Cancer Moonshot Blue Ribbon Panel recommendation for the creation of a data science infrastructure necessary to connect repositories, analytical tools, and knowledge bases and to allow data to be aggregated, queried, analyzed, and visualized in unique and powerful ways within and across data types. Towards this end, the National Cancer Institute (NCI) has already created — the Genomic Data Commons (GDC) and the NCI Cloud Resources — to bring the data from diverse cancer genomic studies and computation together to create knowledge that accelerates cancer research and enables precision medicine. The PDC will create a similar infrastructure for the cancer proteomic data and integrates with the Cancer Research Data Commons (CRDC) framework. We strongly believe this resource will be invaluable to cancer researchers by accelerating the understanding of the molecular basis of cancer through the application of large-scale proteome and genome analysis, or proteogenomics.

 Read Less
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
12:10
Lunch on Your Own
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
Next Generation Sequencing
Clinical Diagnostic Sequencing

1:50
 
Andrea Ferreira-Gonzalez
Andrea Ferreira-Gonzalez
Chair of the Division of Molecular Diagnostics in the Department of Pathology; Director of the Molecular Diagnostics Laboratory
Virginia Commonwealth University Health System
About Speaker: ... Read Full Bio 
 
 
Andrea Ferreira-Gonzalez
Andrea Ferreira-Gonzalez
Chair of the Division of Molecular Diagnostics in the Department of Pathology; Director of the Molecular Diagnostics Laboratory
Virginia Commonwealth University Health System
 
About Speaker:
Big Data Bioinformatics
Big Data and Systems Pharmacology

1:50
AI Enabled Drug Discovery: Can We Reduce the Rate of Late Stage Failures?
 
Asim Siddiqui
Asim Siddiqui
Chief Technology Officer
Numedii
About Speaker: Dr. Siddiqui has over 20 years of experience in bioinformatics and software engineering. Prior to joining NuMedii as Chief Technology Officer, he served as Vice President of Product Development at Natera where he built Natera’s product management a... Read Full Bio 
 
 
Asim Siddiqui
Asim Siddiqui
Chief Technology Officer
Numedii
 
About Speaker:

Dr. Siddiqui has over 20 years of experience in bioinformatics and software engineering. Prior to joining NuMedii as Chief Technology Officer, he served as Vice President of Product Development at Natera where he built Natera’s product management and program management functions. Dr. Siddiqui drove improvements to Natera’s NIPT diagnostic including its cloud strategy and cell free cancer program. Prior to that, he served as the Director of Bioinformatics at Life Technologies where he was awarded the Life Technology Inventor Award for his work on NGS bioinformatics. He spent several years at the BC Cancer Agency as Bioinformatics Group Leader involved in large scale genomic projects and leading standards creation. He is an author on over 30 peer-reviewed publications. He holds a doctorate in Bioinformatics from Oxford University and a bachelor’s degree in Physics from Cambridge University.

 
Abstract: Taking drugs through the classical dr...Read More 

Taking drugs through the classical drug development pipeline is an incredible expensive endeavor and the late stage failure of a drug can be devastating to a company. There are an estimated 30,000 diseases and typically only the most common have treatments. To effectively develop therapeutics for all these conditions, the cost of drug development must be substantially reduced. One way of doing that is through increasing the chances of the drug being successful in the clinic. Another is through the use of drugs for which safety in humans is already known, be they marketed drugs, drugs failing in phase 2 and beyond or new compounds similar to those with known safety. At NuMedii, we have built a big data platform integrating biological knowledge built on trillions of data points. We use AI and machine learning to interpret that information and create drug-disease linkages. Using this approach, we have developed a pipeline in inflammatory disease and oncology with one candidate ready for testing in humans.

Benefits:
1. AI/ML approaches can be used to accelerate drug discovery
2. in vitro/in vivo validation of AI predicted drugs
3. Challenges of integrated large biological databases
4. Possible applications in the next 3-5 years

 Read Less
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
2:15
Successes and Challenges for Hospital-based Rare Disease Diagnostics: We do it to make children’s health better.
 
D. Brian  Dawson
D. Brian Dawson
Director, Clinical Laboratories, Division of Human Genetics
Cincinnati Children's Hospital Medical Center
About Speaker: Director, Clinical Labs, Div Hum Genet, Cincinnati Children's since June 2016; Previously 15 years, Director, Clin MolGen Lab, Mayo Clinic, Rochester; Previous 13 years, Director, MolPath Lab, UT Southwestern, Dallas, TX Main Interest: Developing dia... Read Full Bio 
 
 
D. Brian  Dawson
D. Brian Dawson
Director, Clinical Laboratories, Division of Human Genetics
Cincinnati Children's Hospital Medical Center
 
About Speaker:

Director, Clinical Labs, Div Hum Genet, Cincinnati Children's since June 2016; Previously 15 years, Director, Clin MolGen Lab, Mayo Clinic, Rochester; Previous 13 years, Director, MolPath Lab, UT Southwestern, Dallas, TX Main Interest: Developing diagnostic testing for rare, heritable disorders

 
Abstract: The current environment presents many...Read More 

The current environment presents many challenges for the hospital-based laboratory that performs advanced diagnostic testing for the detection of rare diseases in children. Insurers and government payors continue to target genetic testing as either being experimental (whole exome sequencing) or without clinical utility. Hurdles put in place to control costs such as preauthorization delay turn-around-times and add to provider frustration with time-consuming peer to peer discussions related to clinical utility. The capital equipment and reagent costs remain high due to an overall lack of competition. The costs associated with interpretation are also high due to the mainly manual variant curation process. However, the rewards for providing comprehensive testing that results in a diagnosis or changes management for these children make the effort worthwhile. While access to ever-growing national databases is important, collaboration with our physician disease-experts helps to improve the overall quality of variant interpretation. A couple of cases will be used to help illustrate how we’ve incorporated next-generation sequencing and use continuous improvement to seek more cost-efficient ways to provide this important diagnostic capability for our pediatric patients.

 Read Less
2:15
Digital Health Platforms Enhance the Way Diabetes Is Medically Managed
 
Rick Altinger
Rick Altinger
Chief Executive Officer
Glooko
About Speaker: Rick joined Glooko as its first CEO in January 2013 shortly after Glooko received its first FDA clearance. Glooko makes diabetes management easier for patients and their care teams by enabling better and faster data driven decisions that improve outc... Read Full Bio 
 
 
Rick Altinger
Rick Altinger
Chief Executive Officer
Glooko
 
About Speaker:

Rick joined Glooko as its first CEO in January 2013 shortly after Glooko received its first FDA clearance. Glooko makes diabetes management easier for patients and their care teams by enabling better and faster data driven decisions that improve outcomes at lower costs.

With 30 years in the technology industry, concentrating on healthcare technology for the last 20 years, Rick has held a variety of leadership positions with large and small organizations in strategy, business development, product management, account management and systems integration positions. He was a Vice President in the healthcare business unit at Intuit where he launched their provider services and drove the effort that resulted in Intuit acquiring Medfusion. Rick was also Executive Vice President at VantageMed, an EHR and billing services company that he helped turnaround and successfully sell. As Vice President of Business Development at Healtheon/WebMD Rick set product strategy and drove major acquisitions including Envoy, Medical Manger, Kinetra and MedE America and played a key role in driving their growth to over $1B in revenue. Rick received a B.S. in mechanical engineering and an M.S. in engineering management from Stanford University.

 
Abstract: An account of the benefits of mHealth...Read More 

An account of the benefits of mHealth on both self-management and how clinicians, employers and health plans are looped in to support a diabetes population. The session will talk about methods of of risk stratification and how AI and machine learning is used to enable data-driven decision support for both people with diabetes (PWDs) and care teams. The discussion will also delve into how analytics is comparable to the judgement of board-certified endocrinologists.

 Read Less
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
2:40
NGS for Tumor Mutation Burden: Standardization for Clinically-Meaningful Results
 
John  Thompson
John Thompson
Research and Development
PGDX
About Speaker: John Thompson’s career has spanned pharmaceutical, next-gen sequencing, and genetic testing industries. He is currently developing NGS-based clinical diagnostic tests for detecting cancer and its mutational drivers for personalized medicine. Former... Read Full Bio 
 
 
John  Thompson
John Thompson
Research and Development
PGDX
 
About Speaker:

John Thompson’s career has spanned pharmaceutical, next-gen sequencing, and genetic testing industries. He is currently developing NGS-based clinical diagnostic tests for detecting cancer and its mutational drivers for personalized medicine. Formerly, he served as Chief Technology Officer at Claritas Genomics and improved genetic assays for diagnosing rare pediatric diseases. At Nabsys, he advanced mapping and sequencing of very long DNAs using fully solid-state nanodetectors. Prior to Nabsys, he was Senior Director of Genomic Research at Helicos BioSciences for four years, helping to develop the first commercial single-molecule, next-generation sequencing platform and apply it to a range of DNA and RNA sequencing applications. Before that, his contributions at Pfizer used molecular biology and genetic approaches to identify novel therapeutic targets, to establish the genetic basis of drug response, and to characterize the genetics of drug-induced adverse events.

 
Abstract: By harnessing the patient’s own...Read More 

By harnessing the patient’s own immune system to target the cancer cells for destruction, recent immunotherapeutic approaches to cancer treatment have resulted in durable clinical responses across a variety of tumor types. Anti-tumor responses are integrally connected to cancer genomics as immunogenic, “non-self” neoantigens stemming from somatic mutations seem to shape immune responses and drive clinical benefit to Immuno-oncology agents. This suggests that cancers with higher tumor mutation burden (TMB) increase neoantigens and immunogenicity of tumors resulting in more robust responses to immunotherapy. TMB measures the number of mutations found in a tumor as a surrogate for neoantigens. Currently, there is a lack of standardization for TMB calculation and reporting, which could lead to confusion and dilute its potential efficacy as a clinical biomarker. To achieve consistency and accurate reporting across tests, it is imperative to create consistency and define a gold-standard to reach clinically-meaningful results. Personal Genome Diagnostics is building decentralized, regulated products developed around the whole exome gold-standard for TMB and other clinically important biomarkers for oncology.

 Read Less
2:40
Big-Data Analysis Points Toward a New Systems-Based Approach for Cancer Therapeutic Discovery
 
Bin Chen
Bin Chen
Department of Pediatrics and Human Medicine
Michigan State University
About Speaker: Dr. Bin Chen is an assistant professor in the Institute for Computational Health Sciences at University of California, San Francisco. His lab is moving to Michigan State University in April 2018. Dr. Chen is also the founding member of DahShu, a non-... Read Full Bio 
 
 
Bin Chen
Bin Chen
Department of Pediatrics and Human Medicine
Michigan State University
 
About Speaker:

Dr. Bin Chen is an assistant professor in the Institute for Computational Health Sciences at University of California, San Francisco. His lab is moving to Michigan State University in April 2018. Dr. Chen is also the founding member of DahShu, a non-profit organization to promote research and education in data sciences. Dr. Chen trained as a chemist in college, worked as a software engineer before graduate school, trained as a chem/bioinformatician in graduate school, worked as a computational scientist at Novartis, Pfizer and Merck. He received his PhD in informatics at Indiana University, Bloomington and pursed the postdoctoral training in Dr. Atul Butte’s lab at Stanford University. His liver cancer work is recently featured in STAT, GEN, GenomeWeb and KCBS. More info is available on his lab website (http://binchenlab.org/).

 
Abstract: Rapidly decreasing costs of molecular...Read More 

Rapidly decreasing costs of molecular measurement technologies not only enable profiling of disease sample molecular features (e.g., transcriptome, proteome, metabolome) at different levels (e.g., tissues, single cells), but also enable measuring of molecular signatures of individual drugs in clinically relevant models. Exploring methods to relate diseases to potentially efficacious drugs through various molecular features is critical in the discovery of new therapeutics. The target-based drug discovery approach that focuses on interfering with individual targets is challenged by the lack of drug efficacy, drug resistance, and off-target effects. We propose to employ a systems-based approach that identifies drugs that reverse the molecular state of a disease. Using this system-based approach, we have successfully identified drug candidates for three cancers: Ewing’s sarcoma, liver cancer and basal cell carcinoma. In the Ewing’s sarcoma work, this systems-approach achieved a hit rate of >50% in predicting effective drugs. In our recent integrative analysis of 66,000 compound gene expression profiles, 12 million compound activity measurements, 1,000 cancer cell line molecular profiles and 7,500 cancer patient samples, we uncovered that the drug’s ability to reverse cancer gene expression correlates to its efficacy, suggesting the potential of applying this approach in cancer drug discovery. In this talk, the audience will: 1) learn how a data scientist can lead the discovery of new therapeutics, 2) get a sense of the big of the big data, 3) hear an exciting example of using deep learning methods to mine genomic data, and 4) catch up some recent work of using this systems-approach for personalized cancer therapy.

 Read Less
ssclaas=parallelprlval=1Array ( [6387] => 1 [6388] => 1 )
3:05
 
Richard  McCombie
Richard McCombie
Professor & Director, The Stanley Institute for Cognitive Genomics
Cold Spring Harbor Laboratory
About Speaker: ... Read Full Bio 
 
 
Richard  McCombie
Richard McCombie
Professor & Director, The Stanley Institute for Cognitive Genomics
Cold Spring Harbor Laboratory
 
About Speaker:
3:05
Sequencing the Food Supply Chain: Where Big Data meets Food Safety
 
Mark Kunitomi
Mark Kunitomi
Research Staff Member, Industrial and Applied Genomics
IBM
About Speaker: Dr. Kunitomi is a Research Staff Member at IBM Research. His research is focused on understanding how big data analytics and machine learning can be applied to bacterial genomics in order to design rapid diagnostics, characterize metagenomic samples,... Read Full Bio 
 
 
Mark Kunitomi
Mark Kunitomi
Research Staff Member, Industrial and Applied Genomics
IBM
 
About Speaker:

Dr. Kunitomi is a Research Staff Member at IBM Research. His research is focused on understanding how big data analytics and machine learning can be applied to bacterial genomics in order to design rapid diagnostics, characterize metagenomic samples, learning how Antimicrobial Resistance develops, and predicting novel therapeutics.

 
Abstract: The threat of food-borne illness has ...Read More 

The threat of food-borne illness has widespread effect on every part of the supply chain as well as government and healthcare agencies. Even with the industry’s best practices, today’s testing methods remain limited and outbreaks of foodborne illness still regularly occur, costing the US economy billions of dollars every year.
We are currently developing technology in order to harvest and sequence the DNA and RNA of simple food samples to determine hazards based on the organisms present and their metabolic activity. However, bacteria are the most diverse organisms on the planet and capturing and analyzing that diversity is essential towards these goals.
With the decrease in cost and increase in accessibility of high-throughput sequencing, the number of bacterial genomes that have been sequenced has escalated rapidly. The sheer amount of data (there are >100,000 genomes in GenBank as of Nov 2017) presents two major problems: many methods of comparison do not scale with the data and genomes from various sources of various qualities can be difficult to compare fairly. In order to overcome these difficulties, we have developed new pipelines that assembly genomes, compare those genomes, and visualize the results. The power of these methods allow us to analyze hundreds of thousands of raw sequencing datasets.

 Read Less
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
3:30
Afternoon Networking Break
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
5:00
Networking Reception & Poster Session
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
Day 3 - Friday, June 8, 2018
 
7:00
Continental Breakfast
ssclaas=parallelprlval=0Array ( [6388] => 2 )
Focus Group Discussions – Part II (Solutions & Action Items)

Array ( [10995] => Array ( [sheduleid] => 10995 [new_session] => 1 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528441200 [next] => 1528446600 ) [10996] => Array ( [sheduleid] => 10996 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528441200 [next] => 1528446600 ) )
ssclaas=parallelprlval=1Array ( [6389] => 1 [6388] => 1 )
CRISPR & Genome Engineering
CRISPR Technologies and Regulation of Gene Expression

8:30
The Many Flavors of Active Genetics
 
Ethan Bier
Ethan Bier
Professor
University of California, San Diego
About Speaker: ... Read Full Bio 
 
 
Ethan Bier
Ethan Bier
Professor
University of California, San Diego
 
About Speaker:
Big Data Bioinformatics
Bioinformatics Enabling Precision Medicine

8:30
Women’s Health in an Era of Big Data and Artificial Intelligence
 
Mark Adams
Mark Adams
Chief Information Officer
Celmatix
About Speaker: Dr. Adams has been working in bioinformatics and data analytics for more than 20 years, including work in computational biology, biomedicine, intelligence, finance, and biotechnology. Prior to joining Celmatix, he was the Chief Information Officer fo... Read Full Bio 
 
 
Mark Adams
Mark Adams
Chief Information Officer
Celmatix
 
About Speaker:

Dr. Adams has been working in bioinformatics and data analytics for more than 20 years, including work in computational biology, biomedicine, intelligence, finance, and biotechnology. Prior to joining Celmatix, he was the Chief Information Officer for the biotechnology company Good Start Genomics. His previous experience includes Bridgewater Associates, Ltd., where he developed unique data warehousing and machine learning approaches to support the world’s largest hedge fund and Booz Allen Hamilton, where as a principal he developed a leading biomedical informatics consulting practice with a primary focus on informatics strategy for clients in the commercial, government, and non-profit markets. Dr. Adams holds a B.A. from Oberlin College and a PhD. from Baylor College of Medicine. He currently lives in Connecticut with his wife and two daughters.

 
Abstract: Reproductive medicine is at an exciti...Read More 

Reproductive medicine is at an exciting inflection point. In a largely unexplored market–it’s 2018, and women’s reproductive health is still often considered “niche”–a confluence of factors is coming together that creates a perfect storm of opportunity for innovation.

Women’s reproductive conditions are significantly underfunded by government and academic institutions; for example, endometriosis, a disease affecting 10% of women, received $10 million in federal research funding in 2016. To put this into context, anthrax, which had zero cases in the US in 2016, received $51 million that same year.

At the same time, genomics and AI-based techniques for data and personalized medicine are reaching a point where they’re being used in clinical and drug development settings. Following the example set by trailblazers in the oncology field, we’re finally seeing how genomics, AI, and big data from sources like electronic medical records (EMR) can come together to create a new approach to treatment that improves patient outcomes.

When the public sector fails women, it’s time for the private sector to come through for them. That’s why, at Celmatix, we’re on a mission to use technology and science to bring innovation to women’s reproductive health.

Having (relatively) constrained outcomes and well-documented clinical data puts us in a good place to make real (general) progress towards creating a true “learning health system” for women’s reproductive health. This is a goal for many disease areas—oncology, cardiovascular, emergency medicine, etc. It is especially exciting in the fertility space.

To seize this opportunity, together with partners like 23andMe, Celmatix leveraging a new Reproductive Atlas project, which is aimed at building the richest knowledgebase of reproductive potential in the world.

This session will offer the following:
– A greater understanding of women’s health as a greenfield opportunity for genomics and big data innovation
– How the example set by the oncology field can be applied to personalized medicine in reproductive health
– An exploration of the methods and approaches used in creating a “learning health system” for reproductive health, including the application of machine learning, NLP, and other artificial intelligence techniques to a unique combined database of clinical and genomic data
– Preliminary findings of the world’s richest knowledgebase on women’s reproductive health

 Read Less
ssclaas=parallelprlval=1Array ( [6389] => 1 [6388] => 1 )
8:55
Developing Tools and Technologies for Precision Genome Editing
 
Peter Cameron
Peter Cameron
Group Leader, Technology Development
Caribou Biosciences
About Speaker: Peter Cameron earned his Bachelors of Science from the University of Wisconsin-Madison and a PhD in Molecular and Cellular Biology from the University of California-Berkeley. During his graduate work, he investigated the molecular and cellular biolog... Read Full Bio 
 
 
Peter Cameron
Peter Cameron
Group Leader, Technology Development
Caribou Biosciences
 
About Speaker:

Peter Cameron earned his Bachelors of Science from the University of Wisconsin-Madison and a PhD in Molecular and Cellular Biology from the University of California-Berkeley. During his graduate work, he investigated the molecular and cellular biology underlying taste detection in the fruit fly. After graduating, he performed postdoctoral work at The Scripps Research Institute in San Diego, where he developed novel genetic tools to manipulate neural circuits in the mouse brain that underly innate behaviors such as aggression and fear. Following that, Peter was hired as a Scientist at Caribou Biosciences, where he worked on a comprehensive, genome-wide method to measure CRISPR-Cas9 specificity. This method, termed SITE-Seq, was recently published in the May, 2017 issue of Nature Methods. Peter now heads the Technology Development group at Caribou Biosciences, where he leads efforts to develop novel tools and technologies for precision genome editing.

 
Abstract: Gene editing is a promising technolog...Read More 

Gene editing is a promising technology with applications in a variety of fields, including food production and therapeutics. However, one of the challenges presented by gene editing is the potential for unwanted off-target edits. In order to successfully deploy genome editing for various biotechnology and clinical applications, it is critical to design editing strategies that maximize on-target activity while minimizing off-target editing. Here, we present a target selection workflow that enables the identification of Cas9 guide RNAs that show both high on-target activity and high specificity in any cell type of interest. In brief, our workflow utilizes a combination of computational, sequencing, and functional assays to recover guides that enable high on-target editing. Subsequently, guides are analyzed for off-target activity using the SITE-Seq assay, a comprehensive and unbiased off-target analysis method, thus allowing us to discard guides exhibiting low specificity. As an example, we report the identification of high specificity guides that show greater than 90% disruption of the clinically relevant gene T-cell receptor alpha constant (TRAC) in human primary T cells. Together, these target selection tools enable identification of high efficiency and high specificity reagents for therapeutic gene editing.

 Read Less
8:55
AI Enabled Ultra-Rapid Genomic Precision Medicine for NICUs Around the Country
 
Ray  Veeraraghavan
Ray Veeraraghavan
Director of IT & Informatics
Rady Children’s Institute for Genomic Medicine
About Speaker: Narayanan “Ray” Veeraraghavan, PhD, is the Director of Informatics & IT at Rady Children’s Institute for Genomic Medicine, heading the bioinformatics, information management and IT infrastructure efforts at the Institute. Previously, Ray l... Read Full Bio 
 
 
Ray  Veeraraghavan
Ray Veeraraghavan
Director of IT & Informatics
Rady Children’s Institute for Genomic Medicine
 
About Speaker:

Narayanan “Ray” Veeraraghavan, PhD, is the Director of Informatics & IT at Rady Children’s Institute for Genomic Medicine, heading the bioinformatics, information management and IT infrastructure efforts at the Institute.

Previously, Ray led the CAP/CLIA compliant clinical bioinformatics enterprise at Baylor College of Medicine, at its Human Genome Sequencing Center (research) and the Whole Genome Laboratory (commercial) units. During this time, Ray also led the largest ever biomedical compute on Amazon cloud (AWS), for the CHARGE consortium – a 10+ site consortium focused on identifying biomarkers that influence risk in many heart and aging related diseases. This work won the BioIT- World award in 2014 and was (is) also highlighted by AWS as a case-study for efficient ultra-large scale collaborative genomic analyses.

Before joining RCIGM, Ray was a co-investigator in many NIH funded clinical next-gen sequencing based grants such as the Undiagnosed Disease Network (UDN) and eMERGE, and has provided his expertise on FDA panels for bioinformatic metrics and vendor evaluation in genomic medicine.

Ray earned his PhD in Chemical Biology (Penn State), a MS in Industrial Engineering (Penn State) and a BS in Mechanical Engineering (Mumbai, India). He has been able to leverage his engineering background, scientific training and software industry experience in the multitude of projects over the last 17+ years.

 
Abstract: Benefits of genomics have been succes...Read More 

Benefits of genomics have been successfully demonstrated in clinical practise, specifically for undiagnosed “odyssey” cases. However, from a healthcare perspective, the intensive care units (ICUs) account for most of the resource consumption, yet remains underserved as far as precision medicine is related. To address this need, we have developed an rWGS-based and CAP/CLIA compliant precision medicine enterprise to address the specific needs of children admitted to neonatal and pediatric intensive care units. Employing AI, EHR-integration, hardware acceleration, cutting bioinformatics and decision support tools, and a cloud-based hybrid high-performance infrastructure, we have established a scalable platform that is being used to offer clinical rWGS to pediatric hospitals around the country.

 Read Less
ssclaas=parallelprlval=1Array ( [6389] => 1 [6388] => 1 )
9:20
Horizon Discovery Tools: CRISPR, HDR, and Linking all the Data
 
Shawn  McClelland
Shawn McClelland
Global Bioinformatics Manager
Horizon Discovery
About Speaker: Responsible for creating and leading Horizon Discovery's Global Bioinformatics team. Supporting bioinformatics and data science activities across all the business sites; supporting products and services including CRISPR gene editing, RNAi, gene modul... Read Full Bio 
 
 
Shawn  McClelland
Shawn McClelland
Global Bioinformatics Manager
Horizon Discovery
 
About Speaker:

Responsible for creating and leading Horizon Discovery's Global Bioinformatics team. Supporting bioinformatics and data science activities across all the business sites; supporting products and services including CRISPR gene editing, RNAi, gene modulation, cell lines, and animal models.

 
Abstract: Recently developed online tools make ...Read More 

Recently developed online tools make it easy to design HDR CRISPR experiments by picking reagents based on trained functionality algorithms and specificity scores built from Horizon Discovery and legacy Dharmacon’s expanding database of experimental results. What is this data and how do we mine the data and use machine learning to build new products or better analyze results? See some of the techniques we use and how you might utilize them in your research.

Benefits:
1) Better understanding of CRISPR and HDR reagent design
2) Learn about newest tools, products, and services for gene editing.
3) How you can leverage Horizon and legacy Dharmacon’s genome engineering data and expertise in your research.

 Read Less
9:20
The Impact of Next Generation Sequencing in Driving Personalized Cancer Immunotherapy
 
Amit Chaudhuri
Amit Chaudhuri
Vice President of Research and Development
Medgenome
About Speaker: Dr. Amit Chaudhuri has extensive industrial experience in oncology target discovery and validation from Genentech Inc. and CuraGen Corporation prior to his role as VP, R&D at MedGenome. He has Ph.D. in Biochemistry from Indian Institute of Scienc... Read Full Bio 
 
 
Amit Chaudhuri
Amit Chaudhuri
Vice President of Research and Development
Medgenome
 
About Speaker:

Dr. Amit Chaudhuri has extensive industrial experience in oncology target discovery and validation from Genentech Inc. and CuraGen Corporation prior to his role as VP, R&D at MedGenome. He has Ph.D. in Biochemistry from Indian Institute of Sciences, Bangalore and did his Postdoctoral research at MGH, Harvard Medical School and at the Department of Molecular and Cellular Biology, Harvard University.

 
Abstract: Cancer immunotherapy has produced a p...Read More 

Cancer immunotherapy has produced a paradigm shift in cancer treatment by extending the life of patients who failed 2nd and 3rd line therapies. However, only 10% of the treated patients have realized the long term clinical benefit of checkpoint inhibitors. One of the important unmet needs in cancer immunotherapy is to extend the long-term benefit of checkpoint inhibitors to greater number of patients and expand the use of these drugs in cancers that do not respond to cancer immunotherapy drugs. Next Generation Sequencing technology is a key enabler of personalized cancer immunotherapy by identifying tumor cell intrinsic and extrinsic features that sensitize tumors to immune-mediated elimination. MedGenome has developed an integrated platform to interrogate the tumor and the tumor microenvironment from NGS data to develop therapeutic strategies for treatment. We present evidence from hereditary and sporadic cancers that each individual tumor will benefit from a specific combination of vaccine with chemotherapy or with checkpoint inhibitors. The accuracy of predicting cancer vaccines is a critical step towards developing a personalized approach of cancer treatment.
Through this presentation, audience will get a flavor of better vaccine prediction and validation methods. They will get to know MedGenome and our integrated genomics and cell-based solutions in the cancer immunotherapy space, including application of whole transcriptome analysis to characterize the tumor microenvironment analysis and validation from single cell sequencing using the 10X Genomics platform, biomarker discovery approaches to predict patient response and immune toxicity prediction from germline variants. These solutions are supported by our robust high capacity NGS sequencing platforms that makes us end-to-end service provider for all cancer immunotherapy-related needs.

 Read Less
ssclaas=parallelprlval=1Array ( [6389] => 1 [6388] => 1 )
9:45
Novel Chemistries to Improve the Outcomes of CRISPR-based Gene Modulation
 
Benjamin Borgo
Benjamin Borgo
Senior Product Manager, Genome Editing
Agilent
About Speaker: Ben has been at Agilent for 3 years managing product portfolios in diagnostics and genomics. His first exposure to CRISPR was as a graduate student where he attempted to engineer split variants of the Cas9 nuclease. Though he met with little success,... Read Full Bio 
 
 
Benjamin Borgo
Benjamin Borgo
Senior Product Manager, Genome Editing
Agilent
 
About Speaker:

Ben has been at Agilent for 3 years managing product portfolios in diagnostics and genomics. His first exposure to CRISPR was as a graduate student where he attempted to engineer split variants of the Cas9 nuclease. Though he met with little success, it inspired a passion for the technology which he has brought with him to Agilent. Prior to joining Agilent, he worked on several start-up companies focused on software and nanopore-based molecular diagnostics. Ben has a PhD and MBA from Washington University in St. Louis.

 
Abstract: CRISPR systems have emerged as transf...Read More 

CRISPR systems have emerged as transformative tools for altering genomes in living cells with unprecedented ease. Modifications to an organisms transcriptome, including the alteration of gene expression levels using different transcritpional activators and repressors has been demonstrated using dCas9 fusions. We have developed a novel chemistries for the direct synthesis of single guide RNA molecules, and have identified chemical modifications to the RNA that can improve stability, efficiency and specificity for these applications. These advances represent a parallel approach to improvements in the Cas9 protein for improving CRISPR-based experiments that are generally applicable across applications in the modulation of gene expression and genome editing.

 Read Less
9:45
Advancing Discovery and Treatment with Genomics, Clinical and Other Data
 
Brady Davis
Brady Davis
Vice President, Strategy and Markeing
DNAnexus
About Speaker: Brady brings over 15 years experience as an innovator and leader in the life sciences space as well as the hospital ACO and consumer health and wellness industries. Prior to DNAnexus, Brady was head of strategy and market development for Illumina wit... Read Full Bio 
 
 
Brady Davis
Brady Davis
Vice President, Strategy and Markeing
DNAnexus
 
About Speaker:

Brady brings over 15 years experience as an innovator and leader in the life sciences space as well as the hospital ACO and consumer health and wellness industries. Prior to DNAnexus, Brady was head of strategy and market development for Illumina with a special focus on Informatics and driving opportunities to use genetics data as clinical utility. Brady serves on the board of multiple non-profit organizations including the Global Alzheimer's Association Interactive Network (GAAIN), Cancer Commons, Ci4CC, and is Co-Chair of the Advisory Board for the University of Washington Center for Commercialization (C4C). Brady is a graduate of University of Washington.

 
Abstract: Genomic medicine has the potential to...Read More 

Genomic medicine has the potential to change the way we prevent, manage, and treat disease. However, our ability to translate new discoveries into products that can help patients is severely lagging behind the pace of discovery. Translational informatics is the key to support statistical and deep learning associations studies between genomic, other omics, imaging, real-world evidence, and phenotypic information from healthcare systems (e.g. EMR, claims data), as well as interactive explorations of data. This talk will explore real world examples of how pharma and research centers are integrating genomic information with other –omics, EMR, and clinical trial data in order to accelerate drug discovery and development.

 Read Less
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
10:10
Morning Networking Break
ssclaas=parallelprlval=1Array ( [6389] => 1 [6388] => 1 )
CRISPR & Genome Engineering
Therapeutic Applications of CRISPR and Genome Engineering

10:40
Nuclease Free Genome Editing
 
Mark Kay
Mark Kay
Dennis Farrey Family Professor, Departments of Pediatrics and Genetics
Stanford University
About Speaker: Dr. Kay is the Head of the Division of Human Gene Therapy and the Dennis Farrey Family Professor in the Departments of Pediatrics and Genetics at Stanford University. He received a Ph.D. in Developmental Genetics, and M.D. from Case Western Reserve i... Read Full Bio 
 
 
Mark Kay
Mark Kay
Dennis Farrey Family Professor, Departments of Pediatrics and Genetics
Stanford University
 
About Speaker:

Dr. Kay is the Head of the Division of Human Gene Therapy and the Dennis Farrey Family Professor in the Departments of Pediatrics and Genetics at Stanford University. He received a Ph.D. in Developmental Genetics, and M.D. from Case Western Reserve in Cleveland, Ohio.  Before coming to Stanford in 1998, Dr. Kay was at the University of Washington as Associate Professor in the Departments of Medicine, Biochemistry and Pathology.  Dr. Kay has received many awards.  Dr. Kay was on the founding board of directors of the American Society for Gene Therapy and served as the Society’s Vice-President, President-Elect, and President in 2003-2006. He has served on the Oligonucleotide Therapeutics Board of Directors during the last 5 years.  He was elected to the Association of American Physicians in 2010.  Dr. Kay received the American Society for Gene and Cell Therapy’s Outstanding Investigator Award in 2013. He was awarded the 2017 Distinguished Alumni Award and Commencement Speaker at Lyman Briggs College, Michigan State University.

Dr. Kay has published over 250 scientific papers.  The focus of the laboratory is to establish the scientific principles required for gene and nucleic acid transfer for the treatment of genetic and acquired diseases. Dr. Kay has worked on the development  of many DNA gene transfer vectors and the mechanism by which they transduce tissues in mammals.  His group has performed two Phase I/II gene therapy trials for hemophilia B.  His laboratory was the first to establish therapeutic RNAi in whole non-embryonic mammals, and RNAi-mediated inhibition of a human viral pathogen (HBV) in animals.  His work continues towards defining the molecular limits of delivered and expressed RNAi in vivo as well as the mechanisms involved in si/shRNA -mediated gene silencing and the biological mechanisms involved in miRNA-mediated gene repression.  In addition, his laboratory is studying the role that the newly defined small tRNA-derived RNAs play in mammalian gene regulation.  Dr. Kay is a scientific founder of Voyager Therapeutics and a founder of LogicBio Therapeutics.

 
Abstract: Molecular shuffling of AAV capsids re...Read More 

Molecular shuffling of AAV capsids remains a favored method for generating capsid libraries with diverse variants.   Different approaches have been developed for the selection of capsids that provide more robust transduction of an intended tissue and species.  We have recently constructed more diverse capsid libraries that contain DNA barcodes.  High throughput DNA sequencing used in combination with single molecule PacBio DNA sequencing has provided improved selection parameters.  This approach will be outlined and the most recent AAV capsids selected in humanized mouse models will be discussed.    

Homologous recombination (HR) based genome editing using adeno-associated virus (AAV) is been exploited for gene therapeutics. Several laboratories including ours have described AAV-mediated HR efficiencies of up to 1% of transduced cells.  Based on the relatively high HR efficiencies obtained with AAV, we recently developed a new non-disruptive AAV-mediated promoterless gene targeting without using nucleases (Barzel et al., Nature 2015). Using this approach, the therapeutic gene is flanked by host genomic homology arms directing HR near the end of the selected highly transcribed gene (e.g. Albumin locus). The resultant chimeric mRNA makes both the endogenous protein and the therapeutic gene of interest. This process has been named GeneRideR and has been used to ameliorate the bleeding diathesis in both adult and neonatal hemophilia B mice. In our original study, up to 20% of the normal hFIX concentrations were obtained in mouse plasma.  More recently, we have used hyperactive hFIX  constructs and performed  a dose response in mice.  These results will be presented.  The GeneRideR technology has also been used to correct mouse models of  three human inborn errors of metabolism.  GeneRideR provides the opportunity to achieve stable transgene expression after a single administration of an AAV vector regardless if used to treat neonates or adults.  In addition, the lack of an exogenous promoter in our vector will dampen the concern of insertional mutagenesis that can result in high rates of hepatocellular carcinoma in neonatal mice treated with classical AAV vectors.

 Read Less
Big Data Bioinformatics
Funding & Commercialization

10:40
Medicine is Now a Big Data Field
 
Ted  Driscoll
Ted Driscoll
Managing Partner
DigitalDx Ventures
About Speaker: Dr. Ted Driscoll is starting a new venture fund named DigitalDx Ventures, focused on personalized, big-data diagnostics. Dr. Driscoll was previously a Partner at Claremont Creek Ventures leading its efforts in Digital Healthcare and Diagnostics. He l... Read Full Bio 
 
 
Ted  Driscoll
Ted Driscoll
Managing Partner
DigitalDx Ventures
 
About Speaker:

Dr. Ted Driscoll is starting a new venture fund named DigitalDx Ventures, focused on personalized, big-data diagnostics. Dr. Driscoll was previously a Partner at Claremont Creek Ventures leading its efforts in Digital Healthcare and Diagnostics. He led the first investments in Natera (IPOed in 2015), AssureX Health (acquired by Myriad Genetics for $410M) and GeneWeave Biosciences (acquired by Roche for $425M). Prior to entering venture capital, he was an early leader or founder of five startups. His first startup, International Imaging Systems, pioneered the first Digital Subtractive Angiography machines. He then led the technical team at Identix that pioneered the first digital fingerprint recognition which is now used in devices such as the iPhone. Identix went public in 1984. At his next startup, Diasonics, he led the team that created the world’s first MRI scanners, as Senior VP of Engineering and R&D. He was then named Division President of a spinoff from Diasonics named Focus Surgery that pioneered noninvasive HIFU ablation surgery. This company was then purchased by Takai Hospital Supply. His last startup was Be Here Technologies, a 360degree imaging company. This technology was purchased by and incorporated into Google Streetview. During his startup experience he was the inventor of over 50 patents. He graduated from Stanford with a Ph.D. in Digital Imaging, and previously received a Masters in Computer Graphics from Harvard, and a BA from the University of Pennsylvania.

 
Abstract: The practice of Medicine has changed ...Read More 

The practice of Medicine has changed dramatically in the past twenty years. Doctors have gone from not enough data on a patient, to far too much data to understand. As a patient’s genomes, epigenomes and microbiomes become more important, a doctor now must understand billions of data points to effectively diagnose and treat each patient individually. As medicine becomes increasingly personalized, solutions for every patient are different: drug susceptibility and effectiveness vary with every patient, every cancer is. And more different as it grows rapidly and haphazardly. And every pathogen is adapting to antibiotics and finding a way around them. As we better understand our bodies at the molecular level, we start to appreciate our true complexity.

This means that diagnostics is increasingly important to medicine. Medicine has become a “big data” field. Every treatment needs to be personalized to that particular patient’s uniqueness. Some drugs will work for an individual patient, other drugs will not work. A patient’s microbiome will change every day as they eat different foods. This means a patient’s uniqueness won’t even stand still; important parts will be changing all the time. And as such, diagnostics and treatment must also change and evolve.

Simply stated, medicine has now become a digital field. As medicine adopts Electronic Medical Records, the data in our medical history is also becoming critical to diagnosing and treating patients. Treatments you received decades ago may influence what treatment is right for you today. The amount of information coming from our blood, saliva, fecal matter or urine is vast and can indicate serious illnesses well before the patient, or doctor, even thinks to investigate. The typical human body contains 100 trillion cells, each with 3+ billion DNA base pairs, harboring life critical information we need to harness, parse and interpret. Each individual has even more microbiome elements living inside their bodies and influencing their health. Doctors need help from Artificial Intelligence to sort out the vast amount of data on every patient if we are to get out in front of these diseases and be more effectively proactive in health and wellness.  

I believe this is the future of personalized medicine. This is the focus of DigitalDx Ventures.

 Read Less
ssclaas=parallelprlval=1Array ( [6389] => 1 [6388] => 1 )
11:05
Correction of Muscular Dystrophy by Genome Editing
 
Leonela Amoasii
Leonela Amoasii
Director of Research
Exonics Therapeutics
About Speaker: Dr. Leonela Amoasii works in the laboratory of Dr. Eric Olson at the University of Texas Southwestern Medical Center in Dallas. Dr. Amoasii pursued her graduate studies at the Institut de Genetique Biologie Moléculaire et Cellulaire (IGBMC) at the U... Read Full Bio 
 
 
Leonela Amoasii
Leonela Amoasii
Director of Research
Exonics Therapeutics
 
About Speaker:

Dr. Leonela Amoasii works in the laboratory of Dr. Eric Olson at the University of Texas Southwestern Medical Center in Dallas. Dr. Amoasii pursued her graduate studies at the Institut de Genetique Biologie Moléculaire et Cellulaire (IGBMC) at the University of Strasbourg in France. During her doctoral studies, she uncovered the mechanistic basis of myotubular centronuclear myopathy and acquired expertise in the use of adeno-associated virus (AAV) for manipulation of gene expression in muscle. Over the last years Dr. Amoasii has been involved in developing a new therapeutic approach for correction of Duchenne muscular dystrophy using CRISPR/Cas9 genomic editing. Dr. Amoasii pursued the in vivo optimization of the CRISPR/Cas9 genomic editing, her recent work reveals promising results for translation of the genome editing technology to human patients.

 
Abstract: Duchenne muscular dystrophy (DMD) is ...Read More 

Duchenne muscular dystrophy (DMD) is a severe, progressive muscle disease caused by mutations in the dystrophin gene. The majority of DMD mutations are deletions that prematurely terminate the dystrophin protein. Deletions of exon 50 of the dystrophin gene are among the most common single exon deletions causing DMD. Such mutations can be corrected by skipping exon 51, thereby restoring the dystrophin reading frame. Using CRISPR/Cas9, we generated DMD mice by deleting exon 50, providing a platform for comparison of various DMD correction strategies. These mice display severe muscle dysfunction, which can be corrected by systemic delivery of adeno-associated virus encoding CRISPR/Cas9 genome editing components. We optimized the method for dystrophin reading frame correction using a single guide RNA that creates reframing mutations and allows skipping of exon 51. In conjunction with muscle-specific expression of Cas9, this approach leads to up to 90% restoration of dystrophin protein expression throughout skeletal muscles and the heart. Additionally, we investigate the efficiency of the strategy in larger animals. Our results demonstrate efficient correction of dystrophin in DMD canine model. This method of permanently bypassing DMD mutations using a single cut in genomic DNA represents a significant step toward clinical correction of DMD and other neuromuscular disorders.

 Read Less
11:05
Big Data Funding for Biomedicine: Public or Private?
 
Fabricio  Costa
Fabricio Costa
Director of Research and Innovation
UCB
About Speaker: I am really passionate about STEM (Science, Technology, Education and Math). My main aim is to positively impact the lives of 7+ billion people in the planet by using my Skills in Technology, Innovation and Research. As a summary of my Education and ... Read Full Bio 
 
 
Fabricio  Costa
Fabricio Costa
Director of Research and Innovation
UCB
 
About Speaker:

I am really passionate about STEM (Science, Technology, Education and Math). My main aim is to positively impact the lives of 7+ billion people in the planet by using my Skills in Technology, Innovation and Research. As a summary of my Education and Background, I have a Bachelor’s in Science with a Major in Biochemistry and a Minor in Immunology, a Ph.D. in Science/Genetics, did my Post-Doctoral Degree in Molecular Genetics at Harvard University in Boston, MA and an MBA in Entrepreneurship at the Start Up Health Academy in New York, NY. I have contributed extensively to Academic Research with more than seventy-five peer-reviewed articles and white papers, from which five were the in Cover of the Journals. I have also published two book chapters and a US Patent. As an Entrepreneur, I founded one consultancy company and cofounded two big data analytics companies in the healthcare and biotechnology sectors. In one of these big data analytics companies I was the CEO, CSO (Chief Scientific Officer) and we have raised Seed, Angel and Round A Venture Capital (VC) Money. In the position of DataGenno’s CEO, I was able to increase our client’s revenues more than 10X in only 6 months. This company was sold in 2016. My background in Entrepreneurship goes from building a Start Up from the ground up, developing a Solution, getting an IP (Patent), getting Venture Capital Investment and exiting the company with a 5X ROI having the entrepreneur/inventor experience from beginning to end. As an Innovator and Serial Entrepreneur, I have also become a Member and Mentor in more than fifteen Life Sciences, Technology and Healthcare Start Up Company Incubators, Accelerators and TTOs globally (United States, Europe, Asia and South America). In addition, I became a Project Manager (PM) of Apple's (NASDAQ:AAPL) International Training Program and a Member at both Google’s (NASDAQ:GOOG) for Entrepreneurs & High Education Programs. Recently, I became a Member of the Singularity University (SU) Hub through their Exponential Innovation Program.

ssclaas=parallelprlval=2Array ( [6389] => 1 [6388] => 2 )
Array ( [10100] => Array ( [sheduleid] => 10100 [new_session] => 0 [single_conf] => 0 [cfid] => 6389 [schedule_type] => speakerslot [prev] => 1528455900 [next] => 1528458900 ) [11208] => Array ( [sheduleid] => 11208 [new_session] => 1 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528455900 [next] => 1528458900 ) [11209] => Array ( [sheduleid] => 11209 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528455900 [next] => 1528458900 ) )
11:30
Single Nucleotide Editing in iPSC Clone with Vector-Free CRISPR
 
Jiwu Wang
Jiwu Wang
President and CEO
Allele Biotechnology
About Speaker: Dr. Wang is the Founder, President and CEO of Allele Biotechnology & Pharmaceuticals Inc. and the Scintillon Institute for Biomedical and Bioenergy Research. He has been an active researcher in the RNA field for over 20 years with significant con... Read Full Bio 
 
 
Jiwu Wang
Jiwu Wang
President and CEO
Allele Biotechnology
 
About Speaker:

Dr. Wang is the Founder, President and CEO of Allele Biotechnology & Pharmaceuticals Inc. and the Scintillon Institute for Biomedical and Bioenergy Research. He has been an active researcher in the RNA field for over 20 years with significant contributions to the understanding of RNA-related cellular processes, such as pre-mRNA splicing, RNA interference (RNAi), microRNA (miRNA) in developmental control, and mRNA as a platform for transgenes. His research is the foundation for Allele Biotechnology’s cellular reprogramming platform.

 
Abstract: iPSC and CRISPR are both powerful tec...Read More 

iPSC and CRISPR are both powerful technology platforms; when combined appropriately they will clear a path towards mutation correction capable cell therapy, an advanced form of personalized medicine. On the iPSC side, integration-free, virus-free, and validated-cGMP production of iPSCs will be the centerpiece of the platform. On the CRISPR side, it is critical to be able to edit with a single nucleotide precision while leaving minimum chances for unintended genome alterations. In addition to the well-studied off-target activities intrinsic to the CRISPR/cas system, which can be managed by using good algorithm and sensitive detection, the delivery of the CRISPR system via viral or plasmid vectors can leave footprints in the genome through integration. We will show that we edited human genome using in vitro transcribed RNAs only, without any vector, hence a clean, “All-RNA” CRISPR format. When a template was needed to replace a single base, a synthetic DNA oligo is introduced, again without a vector. Pluripotent stem cells such as iPSCs are known to be sensitive to cell culture environment, perturbations of which often cause them to differentiate. Thus, introducing CRISPR into iPSCs while keeping them as iPSCs through a lengthy transfection and selection of clones with single point editing is very challenging. Additionally, pluripotent stem cells have strong tendency to cluster, and do not grow well when dispersed into single cells when post-CRISPR screening is performed. We have developed, through meticulous testing and troubleshooting, a proprietary process for meeting this challenge and will show successful results of creating iPSC clones with single nucleotide editing at the intended target site.

 Read Less
11:55
Site-Specific A-to-I RNA Editing by RNA-Targeting Cas9
 
Kristopher Brannan
Kristopher Brannan
Postdoctoral Fellow, Cellular and Molecular Medicine
University of California, San Diego
About Speaker: In 2014 Kristopher began his postdoctoral research with the Yeo lab, focusing on protein-protein and protein-RNA interactions important for controlling mRNA fate in the context of neuronal development and neurodegenerative disease.... Read Full Bio 
 
 
Kristopher Brannan
Kristopher Brannan
Postdoctoral Fellow, Cellular and Molecular Medicine
University of California, San Diego
 
About Speaker:

In 2014 Kristopher began his postdoctoral research with the Yeo lab, focusing on protein-protein and protein-RNA interactions important for controlling mRNA fate in the context of neuronal development and neurodegenerative disease.

 
Abstract: Thousands of G-to-A mutations in the ...Read More 

Thousands of G-to-A mutations in the human genome result in genetic diseases. Means to correct these mutations without concerns of permanent off-target base conversions in somatic cells are required for therapeutic purposes. Here, we describe the development of a programmable CRISPR system fused to catalytically active wildtype or mutant E488Q deaminase domain of human ADAR2 capable of directing adenosine-to-inosine (A-to-I) conversion of specific targeted bases in both reporter and endogenous cellular mRNAs. We observe that the spacer sequence is dispensable upon sufficient 3’ extension of the guide RNA to enhance complementarity to the target mRNA, revealing that the RCas9 system can be viewed as an RNA aptamer-binding complex. We target the IDUA premature termination codon to restore enzyme expression and function in Hurler patient cells with lysosomal storage defects. This effort highlights the utility of RCas9 for targeted and reversible nucleotide-level conversion and regulation of gene expression.

 Read Less
Array ( [10100] => Array ( [sheduleid] => 10100 [new_session] => 0 [single_conf] => 0 [cfid] => 6389 [schedule_type] => speakerslot [prev] => 1528455900 [next] => 1528458900 ) [11208] => Array ( [sheduleid] => 11208 [new_session] => 1 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528455900 [next] => 1528458900 ) [11209] => Array ( [sheduleid] => 11209 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528455900 [next] => 1528458900 ) )
11:30
Panel Discussion
Panelists:
Fabricio  Costa
Fabricio Costa
Director of Research and Innovation
UCB
 
Fabricio  Costa
Fabricio Costa
Director of Research and Innovation
UCB
 
About Speaker:

I am really passionate about STEM (Science, Technology, Education and Math). My main aim is to positively impact the lives of 7+ billion people in the planet by using my Skills in Technology, Innovation and Research. As a summary of my Education and Background, I have a Bachelor’s in Science with a Major in Biochemistry and a Minor in Immunology, a Ph.D. in Science/Genetics, did my Post-Doctoral Degree in Molecular Genetics at Harvard University in Boston, MA and an MBA in Entrepreneurship at the Start Up Health Academy in New York, NY. I have contributed extensively to Academic Research with more than seventy-five peer-reviewed articles and white papers, from which five were the in Cover of the Journals. I have also published two book chapters and a US Patent. As an Entrepreneur, I founded one consultancy company and cofounded two big data analytics companies in the healthcare and biotechnology sectors. In one of these big data analytics companies I was the CEO, CSO (Chief Scientific Officer) and we have raised Seed, Angel and Round A Venture Capital (VC) Money. In the position of DataGenno’s CEO, I was able to increase our client’s revenues more than 10X in only 6 months. This company was sold in 2016. My background in Entrepreneurship goes from building a Start Up from the ground up, developing a Solution, getting an IP (Patent), getting Venture Capital Investment and exiting the company with a 5X ROI having the entrepreneur/inventor experience from beginning to end. As an Innovator and Serial Entrepreneur, I have also become a Member and Mentor in more than fifteen Life Sciences, Technology and Healthcare Start Up Company Incubators, Accelerators and TTOs globally (United States, Europe, Asia and South America). In addition, I became a Project Manager (PM) of Apple's (NASDAQ:AAPL) International Training Program and a Member at both Google’s (NASDAQ:GOOG) for Entrepreneurs & High Education Programs. Recently, I became a Member of the Singularity University (SU) Hub through their Exponential Innovation Program.

Ted  Driscoll
Ted Driscoll
Managing Partner
DigitalDx Ventures
 
Ted  Driscoll
Ted Driscoll
Managing Partner
DigitalDx Ventures
 
About Speaker:

Dr. Ted Driscoll is starting a new venture fund named DigitalDx Ventures, focused on personalized, big-data diagnostics. Dr. Driscoll was previously a Partner at Claremont Creek Ventures leading its efforts in Digital Healthcare and Diagnostics. He led the first investments in Natera (IPOed in 2015), AssureX Health (acquired by Myriad Genetics for $410M) and GeneWeave Biosciences (acquired by Roche for $425M). Prior to entering venture capital, he was an early leader or founder of five startups. His first startup, International Imaging Systems, pioneered the first Digital Subtractive Angiography machines. He then led the technical team at Identix that pioneered the first digital fingerprint recognition which is now used in devices such as the iPhone. Identix went public in 1984. At his next startup, Diasonics, he led the team that created the world’s first MRI scanners, as Senior VP of Engineering and R&D. He was then named Division President of a spinoff from Diasonics named Focus Surgery that pioneered noninvasive HIFU ablation surgery. This company was then purchased by Takai Hospital Supply. His last startup was Be Here Technologies, a 360degree imaging company. This technology was purchased by and incorporated into Google Streetview. During his startup experience he was the inventor of over 50 patents. He graduated from Stanford with a Ph.D. in Digital Imaging, and previously received a Masters in Computer Graphics from Harvard, and a BA from the University of Pennsylvania.

ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
12:20
Lunch Provided by GTCbio
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
ssclaas=parallelprlval=0Array ( [6388] => 5 )
Keynote Panel Discussion

Array ( [9345] => Array ( [sheduleid] => 9345 [new_session] => 1 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528467300 [next] => 1528470000 ) [9613] => Array ( [sheduleid] => 9613 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528467300 [next] => 1528470000 ) [9621] => Array ( [sheduleid] => 9621 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528467300 [next] => 1528470000 ) [10102] => Array ( [sheduleid] => 10102 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528467300 [next] => 1528470000 ) [11386] => Array ( [sheduleid] => 11386 [new_session] => 0 [single_conf] => 0 [cfid] => 6388 [schedule_type] => speakerslot [prev] => 1528467300 [next] => 1528470000 ) )
ssclaas=mixsessionprlval=1Array ( [6388] => 1 )
3:00
Summit Concludes