Session Abstract – PMWC 2023 Silicon Valley

Track 3 - January 27 9.00 A.M.-4.15 P.M.


Track Chairs:
Sharon Terry, Genetic Alliance & Alice Rathjen

  • PMWC 2023 Award Ceremony:
    Pioneer Honoree: David Bentley, Ilumina
  • Learnings and Advancements of Population Studies (PANEL)
    Chair: Sharon Terry, Genetic Alliance
    - David Bentley, Illumina
    - Slavé Petrovski, AstraZeneca
    - Andrea Ganna, FinnGen
    - Robert Wildin, University of Vermont Health
    - Alexander Charney, Mount Sinai
  • Precision Medicine in Understudied Populations
    - Ryan Taft, Illumina
    - Aimé LUMAKA, WALGEMED
  • Building Future Precision Care in Qatar
    Chair: Khalid Fakhro, Sidra Medicine
    - Ziyad M. Hijazi, Sidra Medicine
    - Edison T. Liu, The Jackson Labs
  • Challenges and Opportunities for National Precision Medicine Initiatives (PANEL)
    Chair: Alessandro Riccombeni, Microsoft UK
    - Catalina Lopez-Correa, Genome Canada
    - Khalid Fakhro, Sidra Medicine
  • Framework to Improve the Translation of Genomics into the Clinic (PANEL)
    Chair: Kathleen Barnes, Tempus Labs
    - Carlos Bustamante, Galatea Bio
    - Ora Gordon, Providence
    - Abasi Ene-Obong, 54gene
  • Identifying Relationships Between Disparate Data Sets to Monitor and Control Pathogen Outbreak (PANEL)
    Chair: Charles Chiu, UCSF
    - Amy Kirby, CDC
    - Smruthi Karthikeyan, Caltech
  • Increasing Diversity in Population Studies
    - Manual Rivas - Global Biobank Engine, Stanford Rivas Lab
  • The Missing Diversity in Human Epigenomic Studies
    - Charles E. Breeze, National Cancer Institute
  • The Transition from Genomics to Phenomics in Precision Population Health
    - Lee Hood, Phenome Health

 Session Chair Profile

MA, CEO, Genetic Alliance

Biography
Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise engaging individuals, families and communities to transform health. As ‘just a Mom’ with a master’s degree in theology, she cofounded PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE), in response to the diagnosis of PXE in her two children in 1994. She is the author of 150 peer-reviewed papers, of which 30 are clinical PXE studies. Her story is the topic of her TED Talk and TED Radio Hour. In her focus at the forefront of consumer participation in genetic research, services and policy, she serves in a leadership role on many of the major international and national organizations. Terry is an Ashoka Fellow. She is an avid student and facilitator of Gestalt Awareness Practice. Her joy in life is her daughter and son, their wives, and her granddaughter.


 Session Chair Profile

M.D., Ph.D., Professor, Laboratory Medicine and Medicine/Infectious Diseases, UCSF

Biography
Charles Chiu, M.D./Ph.D. is a Professor at UCSF, Director of the UCSF-Abbott Viral Diagnostics and Discovery Center (VDDC), and Associate Director of the UCSF Clinical Microbiology Laboratory. Chiu currently leads a translational research laboratory focused on clinical metagenomic sequencing assay development for infectious diseases and genomic investigation and surveillance of emerging pathogens, including the SARS-CoV-2 coronavirus. He also uses RNA-Seq transcriptome profiling to develop predictive models using machine learning for host response-based diagnosis of COVID-19 and other infections. Chiu’s work is supported by funding from the National Institutes of Health (NIH), Department of Defense, US Centers for Disease Control and Prevention (CDC), philanthropy, and the California Initiative to Advance Precision Medicine. He has authored more than 100 peer-reviewed publications (>20 on COVID-19), holds over 15 patents and patent applications, and serves on the scientific advisory board for Mammoth Biosciences, Danaher Dx, Biomesense, and Flightpath.


 Session Chair Profile

Ph.D., CRO, Sidra Medicine

Biography
Dr Fakhro leads the Laboratory of Genomic Medicine, which focuses on bringing emerging genomic technologies from the lab close to the patients bedside. Over the past decade, his group has sequenced thousands of genomes from patients and volunteers across the Middle East, leading gene discovery efforts for a wide range of rare disorders, as well as landmark studies on population structure, genome structural variation, and the role of Islamic ethics in genome research. In addition to research and hospital duties, Dr Fakhro serves multiple leadership roles in Qatars growing biomedical ecosystem, including as Board Member of the Qatar Precision Medicine Institute, and Adjunct Faculty at both WeillCornell Medical College and Hamad Bin Khalifa University, where he teaches and supervises Masters and PhD students in genomics and precision medicine.


 Speaker Profile

Ph.D., Assist. Prof., Dept. of Public Health Sciences (Division of Epidemiology), UC Davis Health

Biography
Dr. Popejoys Public Health Genomics lab at UC Davis Health operates at the intersections of computational genomics, human population genetics, clinical genetics, biomedical data science, and bioethics. Her current research is focused on investigating diversity measures such as race, ethnicity, and ancestry in genomics and medicine, with the goal of developing standards, recommendations, and novel computational approaches to modeling human population diversity.


 Session Chair Profile

Ph.D., MBA, National Genomics Officer, Microsoft UK

Biography
Dr. Alessandro Riccombeni has more than 15 years of international experience in genomics research, product development, and business strategy across the US and EMEA. Before joining Microsoft, he created AWS international genomics business, focusing on population genomics and product development. Riccombeni has led the development of cloud platforms for bioinformatics and commercial services for gene editing. He started his career in research, leading projects in Oncology and Infection Biology before moving into industry. Alessandro holds a Ph. D. in Comparative Genomics from University College Dublin and an MBA from London Business School.


Talk
Precision Medicine initiatives are transforming healthcare and introducing genomic medicine around the world. Millions of patients are being recruited, creating diverse challenges and opportunities across public and private sector. In this talk well focus on how the UK ecosystem is accelerate growth in the Precision Medicine industry, bringing together academia, NHS, industry and patients.


 Speaker Profile

Ph.D., Vice President, AstraZeneca

Biography
Dr. Slavé Petrovski is a human geneticist by training with over 15 years’ experience leading large-scale omics studies. In this time, Slavé has contributed to shaping the field of contemporary population and statistical genomics, including introducing machine learning & advanced analytics to identify numerous drug targets across a diverse range of diseases. Since 2017, as the Vice President and Head of AstraZeneca’s Centre for Genomics Research (CGR) Slavé is accountable for architecting and delivering the company’s Genomics Initiative strategy. He has built in-house capabilities and expertise across key domains: Bioinformatics, Statistical Genetics, Innovative AI/ML methods, multi-omics, and clinical sciences. Applying these cross-disciplinary skills to large-scale omics datasets.


Talk
Leveraging Large-scale Omics to Deliver AstraZeneca's Company-Wide Genomics Initiative
AstraZenecas Genomics Initiative was announced in 2017. Hear some scientific and technical capability vignettes on how the growing collection of integrated multi-modal omics datasets have impacted internal R&D and Clinical Development.


 Speaker Profile

CRO, Sidra Medicine

Biography
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 Speaker Profile

M.D., M.B.A., Vice President Clinical, Oxford Nanopore

Biography
As Head of Oxford Nanopore Diagnostics (OND), Emma supports Oxford Nanopores ambitions for growth in healthcare applications. Until November 2020, Emma was Director for Supplies and Innovation as part of the British government’s NHS Test and Trace response to COVID-19. Prior to this, Emma was CEO of Four Eyes Insight, Chief Partnership Officer for Beacon Health Options (Northeast USA) and CEO of Beacon in the UK. Emma has also been a Commonwealth Fund Harkness Fellow in Healthcare Policy and Practice and a Senior Associate at the Institute for Strategy and Competitiveness, both at Harvard University. Prior to this, Emma was a practicing clinician in the UKs National Health Service (NHS).


 Speaker Profile

Ph.D., Assistant Professor, Engineering, Applied Science, William Hurt Scholar, Caltech

Biography
Dr. Karthikeyan's research interests lie at the interface of microbial ecology, computational biology and engineering. Her overarching objectives are to develop integrated wet-lab and multi-omic (DNA-,RNA- and metabolome-level) approaches to provide a systems-level understanding of complex microbial communities and how these can be translated to microbiome biomarkers for environmental and human health.


Talk
Seer in the Sewer: Wastewater sequencing for public health


 Session Chair Profile

Ph.D., SVP Population Genomics Health, Tempus Labs

Biography
Dr. Kathleen C. Barnes is a genetic epidemiologist with expertise in multiple complex lung and inflammatory diseases. For ~30 years her population-based studies have focused on ethnically diverse, family-based and independent populations across the Americas, summarized in >230 publications. She has led multiple international multi-omics projects and is a founding PI in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Project. Originally at Johns Hopkins University (1993-2015) then the University of Colorado (2015-present), she has procured >150K biospecimens from her own research laboratory, and high-throughput, cutting edge multi-omics technologies. She is founding Director of the Colorado Center for Personalized Medicine, and transitioned as SVP of Population Genomics Health at Tempus Labs in 2021, with a goal of linking extensive electronic health record (EHR) data to ‘omics’ information to promote the development of predictive analytic tools, integrate these tools into routine health care, and expand prognostic and diagnostic capacity in health systems.


 Speaker Profile

M.D., Ph.D., Chief Scientific Officer, Genome Canada

Biography
Dr. Lopez-Correa is the Chief Scientific Officer (CSO) at Genome Canada. Dr. Lopez-Correa has dedicated her career to genomics and its transformative applications in life sciences in Canada and internationally. As CSO at Genome Quebec (2008-2015) and Genome BC (2015-2019), she was instrumental in developing competitive teams for research and innovation initiatives raising the profile of Canadian genomics on the global stage. Recently, as the Executive Director of the Canadian COVID19 Genomics Network (CanCOGeN) she led a $40M initiative to advance the use of genomics to understand and control the COVID19 pandemic. Now, as CSO of Genome Canada, she is taking genomics to the next level, by advancing mission driven initiatives using genomics to solve the most pressing global challenges. Dr. Lopez-Correa’s work has been recognized with several awards. In 2017 the Canadian Senate 150th Anniversary Medal, in 2013 the National Order of Merit from Colombia.


 Speaker Profile

Ph.D., VP Scientific Research, Illumina

Biography
At Illumina, Dr Taft leads a team of scientists focused on the deployment of genomic technologies for patients worldwide, especially the use of whole genome sequencing as a platform for genetic testing. His activities include oversight of the Illumina Clinical Services Laboratory’s clinical whole genome sequencing test, pediatric and adult diagnostic trials, bioinformatic innovation and novel application development. Dr Taft has also championed a philanthropic program, iHope, that provides patients across the globe pro bono access to clinical whole genome sequencing, which, through a partnership with Genetic Alliance and a $120M in-kind donation, will scale to support tens of thousands of patients over the next five years. Dr. Taft has helped describe more than a dozen novel genetic disorders, and was one of the first to use short-read whole genome sequencing to resolve an undiagnosed disease. He is an active advisor to rare genetic disease focused technology companies, nonprofits and academic institutions.


 Speaker Profile

M.D., Regional Medical Director, Clinical Genetics & Genomics Program; Clinical Director, Population Genomics Program, Providence

Biography
Dr. Gordon is a genomics pioneer who has been recognized with honors, special awards, multiple grants, and fellowships in cancer research and translational genomics. At Providence health system, she works as the Regional Medical Director of the Clinical Genetics & Genomics program and as the Chair of the Commission on Cancer Integrated Network Cancer Program. Dr. Gordon is passionate about holistic approaches to health and disease prevention with a focus on social determinants of health and equity. She uses her understanding of what motivates providers, to deliver solutions that drive the adoption of genomics in clinical practice and equitably bring genomics to all patients across their lifetime. Having completed an integrative medicine fellowship, her drive is to have “more tools in the toolbox” to empower patients and believes genomics is the foundation for all wellness-based care.


 Speaker Profile

Ph.D., Assistant Professor, Stanford

Biography
Manuel is an Assistant Professor in the Department of Biomedical Data Science at Stanford University in Stanford, California. Manuel has a Bachelor of Science in Mathematics from the Massachusetts Institute of Technology, and a Doctor of Philosophy in Human Genetics from the Nuffield Department of Clinical Medicine at Oxford University where he was a Clarendon Scholar. He did additional training at the Broad Institute in Cambridge, Massachusetts where he led the Helmsley Inflammatory Bowel Disease Exome Sequencing Program to understand the genetic factors that contribute to ulcerative colitis and Crohn’s disease risk.


 Speaker Profile

PMWC PIONEER AWARD
Leadership role in the Human Genome Project and other large genetic population studies that transformed precision medicine.

Ph.D., Vice President & Chief Scientist, Illumina

Biography
Dr Bentley has focussed on the development and deployment of fast, accurate human whole genome sequencing (WGS) to transform precision medicine at population-scale around the world. Early applications include genetic disease and cancer, exemplified by the completion of the 100,000 genomes project in 2018, which led to the commissioning of WGS as part of the Genomic Medicine Service in the National Health Service in England (NHSE). This work also triggered other larger scale WGS opportunities including UK BioBank, AllofUS and the Our Future Health projects. Prior to Illumina, Dr Bentley was a founder member of the Board of Management at the Sanger Centre where he played a leading role in the Human Genome Project and related international consortia to characterise genetic variation, including the HapMap Project. Dr Bentley laid the foundations for his career in human medical genomics in early studies of molecular genetics of disease at Oxford and Guy’s Hospital, London.


 Speaker Profile

PMWC PIONEER AWARD
Leadership role in the Human Genome Project and other large genetic population studies that transformed precision medicine.

Ph.D., Vice President & Chief Scientist, Illumina

Biography
Dr Bentley has focussed on the development and deployment of fast, accurate human whole genome sequencing (WGS) to transform precision medicine at population-scale around the world. Early applications include genetic disease and cancer, exemplified by the completion of the 100,000 genomes project in 2018, which led to the commissioning of WGS as part of the Genomic Medicine Service in the National Health Service in England (NHSE). This work also triggered other larger scale WGS opportunities including UK BioBank, AllofUS and the Our Future Health projects. Prior to Illumina, Dr Bentley was a founder member of the Board of Management at the Sanger Centre where he played a leading role in the Human Genome Project and related international consortia to characterise genetic variation, including the HapMap Project. Dr Bentley laid the foundations for his career in human medical genomics in early studies of molecular genetics of disease at Oxford and Guy’s Hospital, London.


 Speaker Profile

M.D., Ph.D., Director of Charles Bronfman Institute of Personalized Medicine, Mount Sinai

Biography
Dr. Charney is a physician-scientist that conducts research to understand the complexities of human brain function in both healthy and pathological states, as well as the genomic basis of human disease more broadly. He is the lead investigator of several of the largest initiatives in the field towards this end, including the Living Brain Project and the Mount Sinai Million Health Discoveries Program. Altogether, his programs are designed to develop new treatments for those living with schizophrenia and other severe mental illnesses, as well as to build resources that the scientific community can harness to develop new treatments for other human diseases.


 Speaker Profile

Ph.D., Founder, 54Gene

Biography
Dr. Abasi Ene-Obong is the Founder of 54gene. He is a seasoned business leader with extensive experience in the US, UK and Nigerian healthcare industries. Among other notable mentions, Dr. Ene-Obong has been recognised as one of Africa’s young innovators, one of Fortune’s 40 under 40 most influential people in healthcare and is a Bloomberg Catalyst in recognition of his contributions towards accelerating solutions to global health problems. 54gene is a health technology company equalizing precision medicine for Africans and the global population through innovative scientific research, advanced molecular diagnostics and clinical studies. The company is working to ensure that Africa, a genetically diverse population, is adequately represented in drug discovery and other clinical research.


 Speaker Profile

M.D., Ph.D., CEO/Founder, Phenome Health and Chief Strategy Officer/Professor, Institute for Systems Biology

Biography
Leroy (Lee) Hood, MD, PhD is the CEO/Founder of Phenome Health, a non-profit organization developing the Human Phenome Initiative, based on the science of wellness, which will sequence the genes and generate the longitudinal phenomes of one million people over 10 years. Phenome Health is well positioned to deliver a new paradigm in healthcare based on prediction, prevention, personalization, and participation, and is intended to address several healthcare challenges: significantly improve health outcomes; facilitate brain health; increase cost effectiveness; reduce the chronic disease burden; promote healthy aging; and enhance U.S. leadership in medical innovation. He has co-founded 17 biotech companies including Amgen, Applied Biosystems, Rosetta and Arivale. His many national and international awards include the Lasker Prize, the Kyoto Prize, and the National Medal of Science.


 Speaker Profile

Ph.D., Research Scholar, NCI

Biography
Charles has abundant experience leading computational epigenomics analyses of high-dimensional datasets as part of the Interlymph consortium, ENCODE and other consortia, to identify mechanisms underlying predisposition to different diseases. In addition, Charles has 10 years of experience leading projects to further the development of computational methods to identify tissue- and cell type-specific features in large scale GWAS and EWAS data.


Talk
Recent work has highlighted a lack of diversity in genomic studies. However, less attention has been given to epigenomics. Recent research using ENCODE data shows that epigenomic studies are lacking in diversity. We propose several solutions and strategies to tackle this problem.


 Speaker Profile

M.D., Assoc. Prof. Pathology & Laboratory Medicine and Pediatrics (Genetics), University of Vermont Health

Biography
Bob Wildin is the clinical and laboratory geneticist leading Vermonts healthcare-integrated Genomic Population Health testing program. The test sequences more than 400 genes in adults with any health status and has identified personal genetic health risks in up to one third of unselected adults and recessive carrier status in more than 85%. Dr. Wildin also attends on the Clinical Genetics service, interprets clinical somatic tumor NGS testing, teaches genetics across the medical education spectrum, and serves on an FDA Data Safety Monitoring Committee for a gene therapy trial. Dr. Wildin has practiced and done human genetics research in multiple US locations as well as in Paris, France. Dr. Wildin is passionate about closing the gaps. Before coming to Vermont, Dr. Wildin served as Chief of the Genomic Healthcare Branch at the National Human Genome Research Institute at NIH, where he promoted the integration of advances in genomic science into mainstream medical practice.


 Speaker Profile

M.D., Ph.D., Coordinator Genomic Medicine in Wallonia, CHU Liège

Biography
Dr Aimé Lumaka graduated from the Medical school and specialized in Pediatrics at the University of Kinshasa (DR Congo). He later obtained his PhD degree in Human Genetics and Genomics at the KU Leuven (Belgium). Dr Lumaka is clinical consultation in genetics in the University hospitals of Liège and the Coordinator of a Genomic Medicine platform at the University of Liège (Belgium). He teaches Genetics and Pediatrics at the University of Kinshasa. His work focuses on the use of Next Generation Sequencing in the diagnosis and research for rare diseases, as well as in care improvement for RD patients, especially critically ill children. He is engaged in increasing accessibility to NGS for rare diseases patients from underserved communities. Dr Lumaka is currently the chair of the Rare Diseases Working Group of the H3-Africa consortium and the Director of the Reference Center for Rare and Undiagnosed Diseases in the RD Congo.


 Speaker Profile

M.D., CMO, Sidra Medicine

Biography
Prof. Hijazi has nearly 40 years of experience in Congenital Cardiology and has pioneered several groundbreaking Interventional procedures in the field. He is an internationally recognized leader in the nonsurgical repair of congenital and structural heart defects in children and adults and in the development of novel transcatheter devices. As CMO of Sidra Medicine, Prof. Hijazi will be responsible for the overall management of the hospitals Medical operations, upholding its clinical excellence and patient safety programs and ensuring that patients in Qatar receive the highest standard of medical care.


 Speaker Profile

M.D., President and CEO, The Jackson Labs

Biography
Edison T. Liu, M.D. is a global leader in translational genomic medicine who has been at the helm of research institutions in US academia, the US National Cancer Institute, and in Asia. He propelled Singapore’s genomics efforts onto the international stage, helping that country become a regional powerhouse in biomedical sciences. In the last ten years, Dr. Liu guided The Jackson Laboratory to a doubling of its size and revenues, and expanded its footprint from North America into China and Japan. As an active physician scientist, his research is centered on the complex genetics of human cancers with a special focus on the genomic biology of breast cancer. Dr. Liu has published over 320 papers, reviews, and books, and is a recipient of numerous national and international awards. He is an advisor to many institutions across the world seeking to establish a competitive position in the global biomedical sciences.


 Speaker Profile

Ph.D., National Wastewater Surveillance System Program Lead, CDC

Biography
Dr. Amy Kirby is an Environmental Microbiologist in the Waterborne Disease Prevention Branch at the Centers for Disease Control and Prevention (CDC). She has a Bachelor of Science in Agriculture from the University of Georgia, a PhD in Microbiology from the University of Buffalo, SUNY, and a Master of Public Health in Epidemiology from Emory University. At CDC, Dr. Kirby is interested in leveraging environmental microbiology methods to measure pathogens, antibiotic resistance genes, and other health indicators in natural and man-made water systems.


 Speaker Profile

MD, Founder, Galatea Bio Inc

Biography
Focused on genomics technology and its application in medicine, agriculture, and evolutionary biology. I was Founding Director (with Marc Feldman) of the Center for Computational, Evolutionary, and Human Genomics. I serve as an advisor to the US federal government, private companies, startups, and non-profits in the areas of computational genomics, population and medical genetics, veterinary and plant genomics, and business strategy.


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