Session Abstract – PMWC 2024 Silicon Valley

Track 2 - January 26 9.00 A.M.-4.00 P.M.


Track Chair:
Gad Getz, Broad Institute

  • PMWC 2024 Luminary Award
    Luminary Honoree: Heidi Rehm, MGH and Broad Institute
  • Opening Talk: The Power of Data by Track Chair Gaddy Getz, Broad Institute
  • Challenges of Remote Data Harmonization and Querying (PANEL)
    Chair: Heidi Rhem, MGH and Broad Institute
    - Chris Lunt, All of Us
    - Simona Carini, UCSF
    - Josh Peterson, Emerge/Vanderbilt University Medical Center
    - Nara Sobreira, Johns Hopkins/GeneMatcher
  • Promoting Global Collaboration for Data Sharing: Overcoming Organizational and Sectoral Barriers (PANEL)
    Chair: Gad Getz, Broad Institute
    - Peter Goodhand, GA4GH
    - Valentina Di Francesco, NHGRI
    - Melanie Courtot, ICGC-ARGO
    - Erica Galvez, Manifest MedEx
  • Keynote: Machine Learning for Therapeutic Discovery
    - Daphne Koller, insitro
  • Exploring the Power of AI and Data Sciences in Drug Discovery (PANEL)
    Chair: Michelle Chen, Insilico Medicine
    - Kim Branson, GSK
    - Laszlo Radvanyi, Ontario Institute for Cancer Research
    - Martin Stumpe, Tempus
    - Sun-Gou Ji, BridgeBio
    - Angela Oliveira Pisco, Insitro
  • Foundation Models to Advance Precision Medicine (PANEL)
    Chair: Nigam Shah, Stanford
    - Aashima Gupta, Google
    - Rod Tarrago, AWS
    - Lana Feng, Huma.ai
  • PMWC Showcase
    - Janusz Dutkowski, Data4Cure

 Speaker Profile

PhD, Director, Cancer Genome Analysis & Professor of Pathology, MGH & Broad Inst.

Biography
Dr. Getz is an internationally acclaimed leader in cancer genomics and is pioneering widely used tools for analyzing cancer genomes. Dr. Getz is a Professor of Pathology at Harvard Medical School. He is the Director of Bioinformatics at the Massachusetts General Hospital (MGH) Cancer Center and Department of Pathology, and is an Institute Member of the Broad Institute of MIT and Harvard, where he directs the Cancer Genome Computational Analysis Group. He has published over 400 papers in prominent journals describing new methodologies to study cancer genomes that have identified new genes and pathways involved in different tumor types, mutational signatures, and tumor evolution.


 Speaker Profile

MD, MPH, Director, Center for Precision Medicine, eMERGE/Vanderbilt

Biography
Josh Peterson is a Professor of Biomedical Informatics and Medicine in the School of Medicine, the Director of the Center for Precision Medicine, and Vice President for Personalized Health. Dr. Peterson is an internationally recognized researcher, educator, and clinician with a portfolio of research designed to translate genomic technologies to routine clinical care. He serves as a principal investigator within the eMERGE Network, the IGNITE pragmatic clinical trials network, and the RISE consortium.


 Speaker Profile

MD, PhD, Associate Professor of Pediatrics, Johns Hopkins U.

Biography
Dr. Sobreira received her medical degree from the Pernambuco University School of Medicine in 2003. She completed a clinical genetics residency in Sao Paulo Brazil (UNIFESP) before joining the Human Genetics graduate program at Johns Hopkins (2007 to 2012). This was followed by a one-year postdoc and a two-year clinical genetics fellowship also at Johns Hopkins School of Medicine. Dr. Sobreira was recruited to the Genetic Medicine faculty in 2015. She has been instrumental in the development of public genetic data bases and genetic analytical tools that are highly valuable, widely used, promote disease gene identification and facilitate collaborations. She developed the PhenoDB analysis module that is in use around the world. Dr. Sobreira is one of the creators of GeneMatcher, the most widely used data sharing platform of rare Mendelian diseases. In addition, she has championed the sharing of gene variant information in genomic databases by developing VariantMatcher.


 Speaker Profile

PMWC LUMINARY AWARD
Markedly improved rare disease diagnosis and testing through enhancement of tools and standards for genomics

PhD, Professor, MGH & Broad Inst.

Biography
Heidi Rehm is a renowned human geneticist and genomic medicine researcher who has made significant contributions to the field of genomics including developing and implementing new approaches, standards and resources to improve genetic testing and diagnosis for rare diseases. She holds several prominent positions including a chief genomics officer role to apply genomics to clinical care across MGH. She is also the codirector of the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard, where she coleads several initiatives to advance genomic medicine research including the Broad Center for Mendelian Genomics involved in rare disease gene discovery, as well as the Clinical Genome Resource (ClinGen) and Genome Aggregation Database (gnomAD), providing free and publicly accessible resources to support the interpretation of genes and variants. She is the recipient of the Curt Stern Award from the American Society of Human Genetics and has published over 250 peer reviewed papers.


 Speaker Profile

CEO, GA4GH

Biography
Peter Goodhand is a senior executive and board member in the global health sector. He has been the senior executive of GA4GH since its founding in 2013. Prior to GA4GH, he was the President and Chief Executive Officer of the Canadian CancerSociety and has also served as the President of the Ontario Institute for Cancer Research. Before joining the notforprofit sector, Goodhand had a 20 year career in the global medical technology industry, including strategic leadership roles with multinational healthcare companies; Board Chair and President of Canada's Medical Device Industry association (MEDTECH); and as the founding Managing Director and the Board Chair of the Health Technology Exchange(HTX).Goodhand is currently CoChair on the boards of Global Genes and the Global Genomic Medicine Collaborative (GGMC); CoChair of the International 100K+ Cohorts Consortium (IHCC); and a member of numerous international advisory boards.


 Speaker Profile

PMWC LUMINARY AWARD

PhD, Professor, MGH & Broad Inst.

Biography
Heidi Rehm is a renowned human geneticist and genomic medicine researcher who has made significant contributions to the field of genomics including developing and implementing new approaches, standards and resources to improve genetic testing and diagnosis for rare diseases. She holds several prominent positions including a chief genomics officer role to apply genomics to clinical care across MGH. She is also the codirector of the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard, where she coleads several initiatives to advance genomic medicine research including the Broad Center for Mendelian Genomics involved in rare disease gene discovery, as well as the Clinical Genome Resource (ClinGen) and Genome Aggregation Database (gnomAD), providing free and publicly accessible resources to support the interpretation of genes and variants. She is the recipient of the Curt Stern Award from the American Society of Human Genetics and has published over 250 peer reviewed papers.


 Speaker Profile

PhD, Director, Cancer Genome Analysis & Professor of Pathology, MGH & Broad Inst.

Biography
Dr. Getz is an internationally acclaimed leader in cancer genomics and is pioneering widely used tools for analyzing cancer genomes. Dr. Getz is a Professor of Pathology at Harvard Medical School. He is the Director of Bioinformatics at the Massachusetts General Hospital (MGH) Cancer Center and Department of Pathology, and is an Institute Member of the Broad Institute of MIT and Harvard, where he directs the Cancer Genome Computational Analysis Group. He has published over 400 papers in prominent journals describing new methodologies to study cancer genomes that have identified new genes and pathways involved in different tumor types, mutational signatures, and tumor evolution.


 Speaker Profile

PhD, Vice President, Computational Genomics, BridgeBio

Biography
SunGou and his team uses large datasets and computational tools to support decision making across early discovery research and late stage clinical programs at BridgeBio. This includes identifying and validating targets by quantifying human genetic support through the use of diverse population scale biobanks, integrating context relevant multi omics data for understanding variant function and mechanism, as well as deploying a genetics first approach and analyzing RWE for patient identification and assessing unmet need, to name a few. The team utilizes various statistical techniques, including AI, to the diverse public and proprietary datasets available at BridgeBio to generate insights not easily attainable through reading published literature. Prior to BridgeBio, SunGou was at SevenBridges developing applications for the graph genome pipeline and supporting the genomic data pipeline of the VA's Million Veteran Program. He earned his PhD in Human Genetics at the Welcome Sanger Institute with Dr. Carl Anderson.


 Speaker Profile

MD, PhD, SVP Global Head of Artificial Intelligence and Machine Learning, GSK

Biography
Dr Kim Branson is a world renowned expert in AI and machine learning (ML). With over 20 years of industry experience, he leads a team of ML researchers and engineers at GSK focussed on applying AI to drug discovery and development. Dr Branson's expertise lies in modelling and machine learning for drug and vaccine discovery, combining perspectives from academia to technology startup. His leadership has helped GSK build one of the industry's most successful inhouse AI departments, leveraging the potential of complex genetic data to maximise GSK's industry leading collaborations. Prior to joining GSK, Dr Branson was the Head of AI, Early Clinical Development at Genentech. He was also involved in various largescalelarge scale machine learning and medical informatics initiatives, ranging from computational drug design to disease risk prediction. By leveraging the potential of complex genetic data through AI and ML, GSK can accelerate the translation of scientific knowledge into new drugs and therapies for patients.


 Speaker Profile

MS, Chief Data Science Strategist, NIH/NHGRI

Biography
Valentina Di Francesco is the National Human Genome Research Institutes (NHGRI) Chief Data Science Strategist, and Director of the Office of Genomic Data Science (OGDS). In this role, she provides leadership, strategic guidance and coordination for NHGRI programs in computational genomic and data science. Her Office provides guidance for NHGRI's implementation of NIH's data sharing policies, promoting the proper governance, stewardship, and sustainability of shared data. Her office also coordinates NHGRI's involvement in NIH-wide data science efforts. It also leads efforts that encourage data scientists to become a part of the genomics research community through the support of training, mentored research experiences, and career development programs.


 Speaker Profile

MD, Healthcare Executive Advisor, AWS

Biography
Rod Tarrago, MD leads clinical informatics for academic medicine at AWS. He has 15 years of experience as a CMIO at two pediatric healthcare systems and was a pediatric critical care physician for 20 years.


 Speaker Profile

PhD, MBBS, Professor of Medicine; Associate CIO for Data Science, Stanford

Biography
Dr. Nigam Shah is Professor of Medicine at Stanford University, and Chief Data Scientist for Stanford Health Care, where he leads artificial intelligence and data science efforts for advancing the scientific understanding of disease, improving the practice of clinical medicine and orchestrating the delivery of health care. Dr. Shah is an inventor on eight patents and patent applications, has authored over 200 scientific publications and has cofounded three companies. Dr. Shah was elected into the American College of Medical Informatics (ACMI) in 2015 and was inducted into the American Society for Clinical Investigation (ASCI) in 2016. He holds an MBBS from Baroda Medical College, India, a PhD from Penn State University and completed postdoctoral training at Stanford University.


 Speaker Profile

PhD, Director of Computational Biology, Insitro

Biography
Angela is the head of computational biology at insitro. She is passionate about extracting meaningful information from biomedical datasets and use that to improve disease understanding and drug development. Angela holds a BSc and MSc in Biomedical Engineering and a PhD in Systems Biology. Her PhD work became the foundation of a new direction of thinking on why cancer develops resistance to chemotherapy, the major reason for treatment failure. Before moving to insitro, she led the Data Science platform at CZ Biohub. There she made significant contributions for the whole organism cell atlas projects including the first whole mouse cell atlas, the first aging cell atlas, and Tabula Sapiens, the first Human Cell Atlas drafts. She is also a founder and core member of Open Problems in Single Cell, a community effort to improve multimodal data analysis by both generating gold standard datasets and benchmarking metrics and infrastructure.


 Speaker Profile

PhD, CEO and Founder, Insitro

Biography
Daphne Koller is CEO and Founder of insitro, a machine learning driven drug discovery and development company. Daphne is also cofounder of Engageli, was the Rajeev Motwani Professor of Computer Science at Stanford University, where she served on the faculty for 18 years, co-CEO and President of Coursera, and Chief Computing Officer of Calico Labs. She is the author of over 300 refereed publications, with an hindex of over 145. Daphne was named one of TIME Magazines 100 most influential people in 2012. She received the MacArthur Foundation Fellowship (2004), ACM Prize in Computing (2008), ACM AAAI Allen Newell Award (2019), and AnitaB.org Technical Leadership Abie Award Winner (2022). Daphne was inducted into the National Academy of Science (2023), the National Academy of Engineering (2011) and elected a fellow of the American Association for Artificial Intelligence (2004), the American Academy of Arts and Sciences (2014), and the International Society of Computational Biology (2017).


Talk
Please see synopsis sent via email. It will not fit here.


 Speaker Profile

PhD, CEO, Biofluidica

Biography
Rolf Muller is a biotechnology leader combining science and business knowledge to build and grow successful technology companies that further healthcare and the field of personalized medicine. He has structured and guided highly efficient multidisciplinary research and commercial teams through funding, to product development, and successful product launch into global markets. Prior to joining BioFluidica he was the Founder and President of Biomatrica, which he developed from an idea to be a global leader in biopreservation technologies for diagnostic and health care companies. Over the last 16 years he has been involved in analyzing markets and developing strategies to position biotechnologies to maximize value. He has interacted with most of the major pharma and biotechnology companies to obtain funded development contracts, joint projects, and partnerships. In addition to raising successfully capital from investors he also raised nondilutive capital from CDC, NCI, NIH, DARPA, InQTel and DOD.


Talk
Development of CellBased Noninvasive Prenatal Testing
BioFluidica is at the forefront of developing microfluidic methods for noninvasive prenatal testing, revolutionizing the detection of genetic abnormalities through maternal blood biomarkers. By enhancing fetal cell isolation and single cell sequencing techniques, it eliminates the need for risky procedures like amniocentesis, providing a more comfortable and safer option for expectant parents.


 Speaker Profile

MD, PhD, Professor of Medicine; Associate CIO for Data Science, Stanford

Biography
Dr. Nigam Shah is Professor of Medicine (Biomedical Informatics) at Stanford University, and serves as the Associate CIO for Data Science for Stanford Health Care. Dr. Shah's research focuses on bringing machine learning to clinical use safely, ethically and costeffectively. Dr. Shah was elected into the American College of Medical Informatics (ACMI) in 2015 and was inducted into the American Society for Clinical Investigation (ASCI) in 2016. He holds an MBBS from Baroda Medical College, India, a PhD from Penn State University and completed postdoctoral training at Stanford University.


 Speaker Profile

Global Director, Healthcare Strategy and Solutions, Google

Biography
Aashima spearheads the healthcare vertical for Google Cloud. In this role, she helps healthcare stakeholders to build innovative solutions and identify new models for care, revenue generation, and improved patient experiences. These solutions incorporate Generative AI, Google Cloud, and APIs to deliver the best results for partners. She founded and led Healthcare vertical and interoperability efforts at Apigee and is a passionate advocate for Open Data and the use of APIs to overcome Healthcare data Silos. Previously, Aashima was head of Digital Health Incubations at Kaiser Permanente and brought several frameshifting opportunities to life. She was responsible for driving innovation through the convergence of various digital technologies, leveraging EMR (EPIC) services. Aashima brings strong technical and leadership skills and holds two patents in the field of computer applications.20100287458 ,20090299784. She serves on the board of Neogen, Molnlycke and was recognized as the Most Influential Women in Healthcare IT by HIMSS.


 Speaker Profile

Programmer/Analyst, UCSF

Biography
Ms. Simona Carini is a researcher at the University of California, San Francisco (UCSF), where she specializes in healthcare informatics with a focus on data harmonization. Throughout her career, she has worked tirelessly to develop strategies that facilitate the seamless integration of diverse datasets, enhancing the scope and depth of research outcomes in the medical field. Ms. Carini brings to the table a deep understanding of the intricacies involved in harmonizing data from disparate sources, and a critical approach to querying this data to extract meaningful insights. Her expertise in leveraging big data to drive insights into complex health issues makes her a valuable voice in the ongoing discourse on the future of healthcare research.


 Speaker Profile

PhD, CEO & Founder, Data4Cure

Biography
Janusz Dutkowski is Founder and CEO of Data4Cure, Inc. a company focused on combining systems biology, machine learning and AI to facilitate continuous translation of biomedical data to knowledge. His background is in mathematics and computer science and he has been working at the intersection of mathematics, computer science and biology to develop new data driven technologies to advance the discovery of new biomarkers and precision based therapies. His research contributions include the development of methods for multiscale analysis of molecular networks and integrative methods for biomarker discovery from multidimensional data. He has co authored over 20 research papers published in scientific journals including Nature Biotechnology, Science and Cell.


 Speaker Profile

PhD, Chief Business Officer, Insilico Medicine

Biography
Michelle Chen is the Chief Business Officer at Insilico Medicine, a leader in the AI-powered drug discovery and development field. She is responsible for the companys strategies, business and corporate development, and US operations. As a biotech executive, Michelle brings in 20+ years of experience in biopharma and technology industries, having worked at multi-national companies such as Roche, Merck, BioMarin, Agilent, as well as small biotech companies. She has a strong track record of success in company building, BDL, MA, RD, marketing, and product commercialization. Michelle has a Ph.D. in Biochemistry from the University of Washington, did her postdoctoral work at UCSF, and received Bioinformatics training at Stanford.


 Speaker Profile

PhD, Director of the Office of Advanced Molecular Detection (OAMD), CDC SPHERES Consortium

Biography
Duncan MacCannell is the Director of the Office of Advanced Molecular Detection (OAMD) at the National Center for Emerging and Zoonotic Infectious Diseases (NCEZID) at the CDC. He has been instrumental in using emerging next generation sequencing technologies to transform infectious disease public health, leading to the establishment of the Advanced Molecular Detection (AMD) Program in 2014. He has guided the program's development and application of sequencing and high performance computing to public health priorities such as detecting and responding to outbreaks and identifying emerging infectious threats. During the pandemic response, Dr. MacCannell established the CDC SPHERES Consortium, which tracks the spread and evolution of SARSCoV2, the virus that causes COVID19. He leads the consortium's efforts to monitor the emergence and spread of new SARSCoV2 variants, which is critical for informing public health decision making, tracking the evolution of infectious diseases and to inform public health policy.


 Speaker Profile

CEO, Manifest MedEx

Biography
Erica Galvez is the chief executive officer of Manifest MedEx, California’s largest nonprofit health information organization. She has extensive experience in health information exchange and interoperability and has been with Manifest MedEx since 2017, previously serving as Chief Operating Officer, Chief Strategy Officer, and Chief of Staff. Prior to joining MX, she led the HIE work for Aledade, with ACOs spanning 15 states and accounting for more than $1.5B in annual health care spending. Prior to Aledade, she led the Office of the National Coordinator for Health IT’s (ONC’s) Interoperability Portfolio. She also served as one of the directors of ONC’s State HIE Program and as program manager for AHIMA’s State-Level HIE Consensus Project. Manifest MedEx is an integral part of California’s health data infrastructure, combining and delivering crucial health information for more than 38 million Californians across 125+ hospitals, 13 health plans, and over 1,800 providers.


 Speaker Profile

PhD, Director Genome Informatics, ICGC-ARGO

Biography
Mélanie Courtot is the Director of Genome Informatics and a Principal Investigator at the Ontario Institute for Cancer Research, and an Assistant Professor in the Department of Medical Biophysics at University of Toronto. She leads the development of the Overture software suite, which has helped manage 3 million genomes accessed by over 300,000 researchers worldwide. Overture powers ICGC and ICGC ARGO (collecting molecular and clinical data for over 100k patients worldwide), VirusSeq (Canadian Covid portal with over 500k SARSCoV2 sequences), and the upcoming Pan Canadian Genome Library. Dr. Courtot leads harmonization efforts for the Global Alliance for Genomics and Health as well as for the International HundredK+ Cohorts Consortium. She is a member of the Digital Research Alliance of Canada researcher council and an advisory board member for the Public Health Alliance for Genomic Epidemiology coalition, European Open Science Cloud for Cancer project and the eLwazi open data science platform.


 Speaker Profile

PhD, President and Scientific Director, OICR

Biography
Dr. Laszlo Radvanyi is the President and Scientific Director of the Ontario Institute for Cancer Research (OICR). With a Ph.D. in Immunology, he is a distinguished scientist specializing in the role of the immune system in cancer. Dr. Radvanyi brings extensive experience to OICR, leading initiatives to advance cancer research and translate scientific discoveries into practical applications. His role involves guiding strategic efforts to understand and combat cancer, contributing significantly to the institute's mission of improving cancer prevention, diagnosis, and treatment.


 Speaker Profile

PhD, Co-Founder & CEO, Huma.AI

Biography
Dr. Feng spent over 20 years in precision medicine. Dr. Feng came from NovartisOncology Business Unit where she established international partnerships for their targeted cancer therapeutics programs. She joined Novartis through its acquisition of Genoptix. Dr. Feng built the BioPharma division at Genoptix, where she grew the business from zero to $45M in five years by forging alliances with pharmaceutical companies and providing companion diagnostics development for targeted cancer therapies. The division was instrumental in Genoptix acquisition by Novartis for $500M.


 Speaker Profile

Chief Technology Officer, All of Us/NIH

Biography
Chris is a technology executive with more than 25 years of experience building web services and other data platforms. He joined the NIH from GetInsured, where he served as the Vice President of government solutions, working with vendors and federal and state governments to improve health insurance shopping and enrollment systems. Previously Chris ran venture-capital-backed internet startups, with one IPO.


 Speaker Profile

PhD, Chief of Artificial Intelligence, Tempus

Biography
Dr. Martin Stumpe serves as the Chief of AI at Tempus, where he leads the development of AI algorithms from NGS and digital pathology to improve clinical context and decision making for better patient care. Prior to Tempus, Dr. Stumpe founded and led the Cancer Pathology project at Google, which uses artificial intelligence to increase the accuracy in image based cancer detection and grading. Earlier in his career, Dr. Stumpe was part of the Kepler team at NASA Ames Research Center; and before that, he was a postdoctoral researcher at Stanford University focusing on molecular dynamics simulations to study chaperone induced protein folding. Dr. Stumpe holds a PhD in Computational and Theoretical Physics from the Max Planck Institute for Biophysical Chemistry in Goettingen, Germany.


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