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 Session Abstract – PMWC 2027 Silicon Valley

Track 3: Precision Dx - Jan 27 9.00 A.M.-5.00 P.M.


Track Chair:
Victor Velculescu, Johns Hopkins

PMWC Award Ceremony
• Rebecca Fitzgerald, University of Cambridge (Luminary)
• Mary-Claire King, University of Washington (Pioneer)
• Nickolas Papadopoulos, Johns Hopkins (Pioneer)

Featured Speakers
• Mary-Claire King, University of Washington
• Rebecca Fitzgerald, University of Cambridge
• Nickolas Papadopoulos, Johns Hopkins
• Victor Velculescu, Johns Hopkins
• Phil Castle, NIH
• Elad Ziv, UCSF
• Ash Alizadeh, Stanford
• Hamed Amini, Hepta
• Becky Taub, Madrigal Pharmaceuticals
• Trevor Pugh, University of Toronto
• Doga Gulhan, Harvard
• Pranav Rajpurkar, Harvard
• Chris Douville, Johns Hopkins
• Sylvia Katina Plevritis, UCSF

In Precision Medicine, Almost All Diseases Are Genetically Rare
A genetics-first keynote framing risk, prevention, and actionability.

The Reckoning
What the first wave of early detection got right and wrong.

The End of One Size Fits All
Risk-stratified screening, high-risk populations, and single-cancer tests.

Treating Disease at the Earliest Stage
Where detection and therapeutic interception begin to converge.

Pre-Cancer Detection & the Liver Disease Frontier
cfDNA and clinical action across the liver-disease-to-cancer continuum.

AI Across Multimodal Signals
Fragmentomics, methylation, imaging, pathology, and integration: hype versus real science.


Confirmed Presenting Companies:

 Speaker Profile

M.D., Ph.D., Co-Founder and CSO, Circular Genomics Inc

Biography
Dr. Mellios is a neuroscientist and RNA Biologist with leading expertise on circRNAs and their applications in precision medicine. He is the cofounder and CSO of Circular Genomics. He has published pivotal studies on the role of noncoding RNAs in brain function and disease and through his work at Circular Genomics has pioneered methods for the use of circRNAs for the better diagnosis and treatment of psychiatric and neurological disorders.


Clinical Dx Showcase:
Circular Genomics Inc

Circular Genomics is a pioneer in precision medicine, leveraging brain-derived circular RNA biomarkers for the better diagnosis and treatment of brain disorders. We are committed to delivering cutting-edge solutions that will revolutionize the way we diagnose and treat neurological and psychiatric illnesses.

 Speaker Profile

Ph.D., Entrepreneur in residence, Google Ventures

Biography
Nicole Gaudelli is a life sciences entrepreneur in residence and joined the GV team in 2024. She focuses on the interface of chemistry and biology with a particular emphasis on harnessing the principles of organic chemistry to enable the creation of precision genetic medicines. She earned her Ph.D. in chemistry from Johns Hopkins University, in the laboratory of Professor Craig Townsend, where she studied monocyclic beta-lactam antibiotics and elucidated the mechanism through which they are biosynthesized. She completed her postdoctoral fellowship at Harvard University and the Broad Institute of MIT and Harvard in the laboratory of Professor David Liu, where she expanded the capabilities of base editing technology by inventing and creating the first adenine base editor (ABE) through directed evolution and engineering. Her doctoral and postdoctoral work culminated in prominent Nature publications in the fields of natural product chemistry and gene editing, and her foundational patent in adenine base editing was licensed by Beam Therapeutics and Verve Therapeutics. Nicole is an inventor on numerous base editing patents and was the vice president of gene editing at Beam Therapeutics, where her team advanced and engineered precision gene editing tools. Her work enabled new and expanded pipeline development within the Beam enterprise. In addition, she served as the program leader for Beam’s hematology program “ESCAPE,” working to create next-generation autologous cell therapy opportunities for patients with sickle cell disease by developing innovative non-genotoxic conditioning strategies. Nicole is a recipient of the 2018 American Chemical Society’s “Talented 12” award, recognized as a 2018 STAT News Wunderkind, a 2018 TEDMED Hive honoree, Genetic Engineering and Biotechnology News “Top 10 Under 40 of 2019”, BioSpace’s 2019 “10 Life Science Innovators Under 40 to Watch”, MIT’s 2019 Technology Reviews’ 35 Innovators Under 35, Business Insider’s 30 Under 40 in 2020, Fortune Magazine’s 40 Under 40 in Healthcare, Endpoint News’s 2021 20 Under 40 in biopharma, and John Hopkins University’s Distinguished Alumna Award of 2022.


 Speaker Profile

M.D., Ph.D., Co-Director of Cancer Genetics and Epigenetics, Johns Hopkins U.

Biography
Dr. Velculescu led the first genome wide sequence analysis in human cancers, identifying key genes and pathways dysregulated in tumorigenesis. He developed methods for global gene expression analyses and coined the word transcriptome" to describe the patterns that could now be obtained in cancer and other cells. These analyses identified a variety of genes not previously known to be involved in neoplasia, including PIK3CA as one of the most highly mutated genes in human cancer. His team's discoveries have led to new FDA approved therapies against PI3K and IDH1, and diagnostic tests for comprehensive tumor profiling. More recently, his group has created noninvasive machine learning liquid biopsy approaches for early detection and monitoring of cancer patients. His work has provided new paradigms for understanding human cancer that have benefited patients worldwide. He has been a Founder and CoCEO of Personal Genome Diagnostics and is Founder and CEO of Delfi Diagnostics.


 Speaker Profile

PMWC LUMINARY AWARD

OBE, FRS, FMedSci, Professor of Cancer Prevention; Director, Early Cancer Institute, and Head, Academic Department of Oncology, University of Cambridge, Cambridge

Biography
Rebecca Fitzgerald is a leading figure in cancer prevention and early detection. She is best known for developing Capsule Sponge or Cytosponge, the “sponge on a string” test for identifying Barrett’s esophagus and early esophageal cancer, providing a practical, less-invasive model for risk-based screening and reducing reliance on endoscopy. Her work has carried this technology across the full translational arc, from mechanistic and biomarker research through large randomized trials, NHS pilots, and large-scale population screening studies, setting a benchmark for how an early detection tool moves from concept to clinical implementation. As Director of the Early Cancer Institute at Cambridge, she has built a program focused on intercepting cancer at its earliest and most treatable stages. A Fellow of the Royal Society and the Academy of Medical Sciences, and American Association of Cancer Research, Fitzgerald continues to shape the future of cancer prevention, precision screening, and early cancer interception.


Talk


 Speaker Profile

Ph.D., CEO and Co-Founder, Hepta

Biography
Hamed Amini is Co-Founder and CEO of Hepta, an AI-native liquid biopsy company building the diagnostic and data platform for chronic disease, beginning with MASH. Hepta decodes cell-free DNA methylation signals in blood to deliver tissue-level insight without biopsy, powered by LiquidTransformer, a transformer AI architecture purpose-built for liquid biopsy in chronic disease. Hamed founded Hepta in 2022 after more than a decade at the forefront of genomics and diagnostics. He was a founding team member at GRAIL, where he led work across technology and product development and translational strategy, and played a pivotal role in developing and launching Galleri, GRAIL's flagship multi-cancer early detection test. Earlier, he was a scientist in Illumina's research division, working at the forefront of next-generation sequencing technologies. He holds a Ph.D. in Biomedical Engineering from UCLA and a B.Sc. in Mechanical Engineering from Sharif University of Technology.


 Speaker Profile

M.D., Ph.D., CEO and Founder, Phenome Health

Biography
A world-renowned scientist and recipient of the National Medal of Science in 2011, Dr. Leroy Hood co-founded the Institute for Systems Biology (ISB) in 2000 and served as its first President from 2000-2017. In 2021, he founded Phenome Health, a non-profit research organization dedicated to contributing solutions to the major challenges causing a crisis in healthcare. In September 2023, Dr. Hood joined the Buck Institute for Research on Aging as Chief Innovation Officer and Distinguished Professor. Dr. Hood is a member of the National Academy of Sciences, the National Academy of Engineering, and the National Academy of Medicine. Of the more than 6,000 scientists worldwide who belong to one or more of these academies, Dr. Hood is one of only 20 people elected to all three. He is also a member of the Inventors Hall of Fame for inventing automated DNA sequencing.


 Speaker Profile

Ph.D., American Cancer Society Professor of Genome Sciences and of Medical Genetics, U. of Washington School of Medicine

Biography
Mary-Claire King is a pioneering human geneticist best known for proving that breast and ovarian cancer can be inherited. In 1990, Dr. King and her team discovered the BRCA1 gene, which is responsible for a significant proportion of inherited breast and ovarian cancer cases. The finding came after roughly 17 years of research against prevailing scientific opinion, and it transformed cancer diagnosis, risk assessment, drug development, and prevention. Earlier, her doctoral work demonstrated through comparative protein analysis that chimpanzees and humans are 99 percent genetically identical. She also pioneered the use of DNA sequencing for human rights investigations, applying it to identify kidnapped children in Argentina and cases of human rights violations on six continents. Her current work spans inherited breast, ovarian, and prostate cancer; schizophrenia; and severe inherited disorders in children. She is a member of the National Academy of Sciences and the National Academy of Medicine.


 Speaker Profile

PMWC PIONEER AWARD

Ph.D., Director of Translational Genetics, Johns Hopkins U.

Biography
Nickolas Papadopoulos is a pioneer in cancer genetics and multi-cancer early detection. At Johns Hopkins, he helped define the genetic basis of hereditary nonpolyposis colorectal cancer, now central to understanding mismatch repair defects and inherited cancer risk. He later helped lead the development of CancerSEEK, a blood-based multi-analyte test combining circulating tumor DNA mutations and protein biomarkers to detect multiple common cancers, including cancers with no routine screening option. As a senior leader of DETECT-A, he helped move multi-cancer early detection beyond technical promise into a prospective interventional screening study in nearly 10,000 asymptomatic women. His work has helped shift liquid biopsy from tumor profiling toward earlier detection, clinical localization, and real-world implementation, a central frontier in precision oncology.


Talk
Detecting Cancer Early with Liquid Biopsy
Using liquid biopsy to detect cancer before it is clinically detected has the potential to reduce both mortality and morbidity due to cancer. Liquid biopsy allows the detection of many tumor types. Two clinical applications will be discussed, Multicancer early detection and detection of minimal residual disease.


 Speaker Profile

Ph.D., Professor, Harvard

Biography
Pranav Rajpurkar is driven by a fundamental passion for building reliable artificial intelligence (AI) technologies for biomedical decision making. His lab approaches biomedical problems with a computational lens, developing AI algorithms, datasets, and interfaces that cut across computer vision, natural language processing, and structured health data. He has collaborated with clinicians across medical specialties, including radiology, cardiology, and pathology, to make some of the first demonstrations of expert-level deep learning algorithms and their effects on clinician decision making. Previously, Dr. Rajpurkar received his B.S., M.S., and Ph.D. degrees, all in Computer Science from Stanford University. His lab’s current research directions include algorithm development for limited labeled data settings, high-quality dataset curation at scale, and the design of effective clinician-AI collaboration setups.


 Speaker Profile

Ph.D., Director, NIH

Biography
Philip E. Castle, Ph.D., M.P.H., was appointed Director of the Division of Cancer Prevention (DCP) at the National Cancer Institute (NCI) in July 2020. In this role, Dr. Castle oversees the conduct and support of research in cancer prevention, early detection, and screening, and prevention and management of symptoms and toxicities in cancer patients. DCP also is the home of the NCI Cancer Prevention Fellowship Program (CPFP), which trains future leaders in the field of cancer prevention and control, and from which Dr. Castle received his public health training from 1999 to 2002. Dr. Castle earned a Ph.D. in Biophysics in 1995 and, in conjunction with his training in the CPFP, a Master’s in Public Health in 2000, both at The Johns Hopkins University, Baltimore, Maryland. Most recently, Dr. Castle was a tenured professor in the Department of Epidemiology and Population Health at Albert Einstein College of Medicine, Bronx, New York, and a visiting professor at institutions in Singapore, China and Australia. Dr. Castle was previously the Chief Scientific Officer of the American Society for Clinical Pathology. Dr. Castle has been a principal investigator for more than 15 years, initiating, conducting, and leading several large NCI molecular and clinical epidemiologic research studies in the U.S. and internationally, including the Mississippi Delta Project; the HPV (Human Papillomavirus) Persistence and Progression Cohort and the Guidelines Cohort at Kaiser Permanente Northern California (KPNC); and the Anal Cancer Screening Study. Dr. Castle worked in the NCI Division of Cancer Epidemiology and Genetics (DCEG) as a fellow, investigator, and then senior investigator from 2002 through 2010. He has co-authored more than 400 published articles on HPV and cervical and anogenital cancers and other cancer-related research. Dr. Castle was named NCI Cancer Prevention Fellowship Distinguished Alumnus in 2017 and was honored with the Arthur S. Flemming Award for Government Service in Applied Science, Engineering, and Mathematics in 2010. Dr. Castle has received many professional honors and recognitions, which can be viewed in his full curriculum vitae (PDF, 819 KB), and his publications. Dr. Castle also rejoins the NCI as a senior investigator with DCEG, focused on discovery, development, and evaluation/validation of new technologies for the prevention of cancer. His professional interests include health disparities, science and translation of cancer prevention strategies, cancer screening, health services research and delivery, epidemiology of HPV and cervical/anogenital cancers, international health, and evidence-based medicine. Dr. Castle is conducting research studies on cancer screening and prevention in Mozambique, Rwanda, and India as well as continuing his work with KPNC.


 Speaker Profile

M.D., Founder & Director, Madrigal Pharma

Biography
Dr. Taub serves as Madrigal’s Senior Scientific and Medical Advisor. Dr. Taub also previously served as Executive Vice President, Research & Development, from July 2016 through June 2019 and as Chief Executive Officer from September 2011 to July 2016. Prior to joining Madrigal, Dr.Taub served as Senior Vice President, Research and Development of VIA Pharmaceuticals, Inc. from 2008 to 2011 and as Vice President, Research, Metabolic Diseases at F. Hoffmann-La Roche AG from 2004 to 2008. In those positions, Dr. Taub oversaw clinical development and drug discovery programs in cardiovascular and metabolic diseases, including the conduct of a series of Phase 1 and 2 proof of concept clinical trials. From 2000 through 2003, Dr. Taub worked at Bristol-Myers Squibb Company and DuPont, in a variety of positions, including as Executive Director of CNS and metabolic diseases research at each company.


 Speaker Profile

Ph.D., 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

Ph.D., Director, Broad Inst.

Biography
Viktor Adalsteinsson is the director of the Gerstner Center for Cancer Diagnostics at the Broad Institute of MIT and Harvard. He also leads the Blood Biopsy Team, a multi-institutional collaboration to profile cancer genomes directly from blood samples. The Blood Biopsy Team includes scientists, engineers, oncologists, and computational biologists spanning numerous investigators and labs at the Broad Institute, MIT, Dana-Farber Cancer Institute, Massachusetts General Hospital, and others. The goal of their research is to develop impactful new diagnostic methods that stand to benefit millions of cancer patients, such as novel approaches for cancer detection and monitoring using blood biopsies. Adalsteinsson holds a Ph.D. in chemical engineering from MIT (J. Christopher Love lab), where he developed novel approaches for functional and genomic profiling of single cells in cancer such as circulating tumor cells. He has been an affiliate of the Broad Institute since 2011, has run his own research lab at the Broad since 2015, and established the Gerstner Center for Cancer Diagnostics with Todd Golub in 2019. Adalsteinsson has analyzed over 15,000 blood biopsies and contributed to more than 45 publications and 12 patents with 4,000 citations in the fields of cancer genomics, cancer diagnostics, and biotechnology. Adalsteinsson was honored by MIT Technology Review in 2017 as a visionary member of its 35 Innovators Under 35 and by Clinical OMICs in 2021 as one of its Pioneers Under 40.


 Speaker Profile

Ph.D., Chair of Biomedical Data Science, Stanford

Biography
Sylvia Plevritis runs a research program that applies data science to the study of cancer systems biology and patient outcomes. She is focused on reverse engineering cell-cell interactions in the tumor microenvironment, from single cell sequencing and multiplexed imaging platforms, in order to identify biomarkers and drug targets and aid in treatment planning. She is a PI with the NCI Cancer Intervention Surveillance Network, an NCI-consortium of investigators who use simulation modeling to improve our understanding of cancer control interventions in prevention, screening, and treatment and their effects on population trends in cancer incidence and mortality. These models have been used to guide public health research and priorities, and aid in the development of optimal cancer control strategies. She is a fellow of the American Institute for Medical and Biological Engineering and Distinguished Investigator in the Academy of Radiology Research, and serves on the NCI Board of Scientific Advisors


 Speaker Profile

M.D., Professor, UCSF

Biography
Elad Ziv is a physician-scientist whose research focuses on germline genetic susceptibility to cancer and treatment outcomes. His group focuses on genetics of breast cancer in Latinas and on genetics of immunotherapy. He and his colleagues have often leveraged concepts from population genetics to help guide their studies of cancer. He completed his undergraduate degree at Yale University and received his MD from UCSF where he also completed residency training in internal medicine and fellowship training in epidemiology and clinical research. He is an elected member of the American Society for Clinical Investigation.


 Speaker Profile

Ph.D., Senior Investigator and Director, Genomics, U. of Toronto

Biography


 Speaker Profile

Ph.D., Assistant Professor, Harvard

Biography
Doga Gulhan is the Principal Investigator of the Gulhan Lab at the Massachusetts General Hospital Cancer Center and a faculty member at Harvard Medical School. She earned her Bachelor of Science degree in physics from Bilkent University and completed her Ph.D. in high-energy physics at the Massachusetts Institute of Technology, followed by a research fellowship at CERN. After transitioning to biomedical informatics, she joined the Park Lab in the Department of Biomedical Informatics at Harvard Medical School as a postdoctoral fellow, where she studied mutational processes in cancer through the development and application of mutational signature analysis methods. Her research program focuses on developing statistical and machine learning approaches, together with a comprehensive suite of computational tools, to decipher cancer genomes and advance personalized oncology.


 Speaker Profile

M.D., Ph.D., Professor, Harvard

Biography
Sylvan Baca is an Assistant Professor of Medicine at Harvard Medical School, a medical oncologist at Dana-Farber Cancer Institute, and an Associate Member of the Broad Institute. Raised in Albuquerque, NM, Dr. Baca received his undergraduate degree from Stanford University and his MD and PhD from Harvard Medical School. He trained in Internal Medicine at Brigham and Women's Hospital and completed his fellowship in Medical Oncology at Dana-Farber Cancer Institute. Dr. Baca received his post-doctoral training in cancer epigenetics with Dr. Matthew Freedman at Dana-Farber Cancer Institute and the Broad Institute of Harvard and MIT. He is on faculty at Dana-Farber Cancer Institute as a Physician and Investigator. In addition to caring for patients, he conducts research at the interface of computational biology and epigenomics to find better ways to treat cancer.


 Speaker Profile

M.D., Ph.D., Co-Director of Cancer Genetics and Epigenetics, Johns Hopkins U.

Biography
Dr. Velculescu led the first genome wide sequence analysis in human cancers, identifying key genes and pathways dysregulated in tumorigenesis. He developed methods for global gene expression analyses and coined the word transcriptome" to describe the patterns that could now be obtained in cancer and other cells. These analyses identified a variety of genes not previously known to be involved in neoplasia, including PIK3CA as one of the most highly mutated genes in human cancer. His team's discoveries have led to new FDA approved therapies against PI3K and IDH1, and diagnostic tests for comprehensive tumor profiling. More recently, his group has created noninvasive machine learning liquid biopsy approaches for early detection and monitoring of cancer patients. His work has provided new paradigms for understanding human cancer that have benefited patients worldwide. He has been a Founder and CoCEO of Personal Genome Diagnostics and is Founder and CEO of Delfi Diagnostics.


 Speaker Profile

Ph.D., American Cancer Society Professor of Genome Sciences and of Medical Genetics, U. of Washington School of Medicine

Biography
Mary-Claire King is a pioneering human geneticist best known for proving that breast and ovarian cancer can be inherited. In 1990, Dr. King and her team discovered the BRCA1 gene, which is responsible for a significant proportion of inherited breast and ovarian cancer cases. The finding came after roughly 17 years of research against prevailing scientific opinion, and it transformed cancer diagnosis, risk assessment, drug development, and prevention. Earlier, her doctoral work demonstrated through comparative protein analysis that chimpanzees and humans are 99 percent genetically identical. She also pioneered the use of DNA sequencing for human rights investigations, applying it to identify kidnapped children in Argentina and cases of human rights violations on six continents. Her current work spans inherited breast, ovarian, and prostate cancer; schizophrenia; and severe inherited disorders in children. She is a member of the National Academy of Sciences and the National Academy of Medicine.


 Speaker Profile

M.D., Ph.D., Co-Director of Cancer Genetics and Epigenetics, Johns Hopkins U.

Biography
Dr. Velculescu led the first genome wide sequence analysis in human cancers, identifying key genes and pathways dysregulated in tumorigenesis. He developed methods for global gene expression analyses and coined the word transcriptome" to describe the patterns that could now be obtained in cancer and other cells. These analyses identified a variety of genes not previously known to be involved in neoplasia, including PIK3CA as one of the most highly mutated genes in human cancer. His team's discoveries have led to new FDA approved therapies against PI3K and IDH1, and diagnostic tests for comprehensive tumor profiling. More recently, his group has created noninvasive machine learning liquid biopsy approaches for early detection and monitoring of cancer patients. His work has provided new paradigms for understanding human cancer that have benefited patients worldwide. He has been a Founder and CoCEO of Personal Genome Diagnostics and is Founder and CEO of Delfi Diagnostics.


PMWC 2027 Silicon Valley - Program

PMWC Hall of Impact

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Nobel laureates, technology founders, regulators, CEOs and scientific pioneers who have taken the PMWC stage.

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