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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 University

PMWC Award Ceremony
• Daniel De Carvalho, University of Toronto

From Mutation to Methylation: The Next Wave of Liquid Biopsy Biomarkers
• Chair: Victor Velculescu, Johns Hopkins University
• Daniel De Carvalho, University of Toronto
• Stephen Master, CHOP/U Penn
• Gordon Sanghera, Oxford Nanopore Technologies

Advancing Minimal Residual Disease Detection Through cfDNA & cfRNA Profiling
• Chair: Luis Diaz, Memorial Sloan Kettering Cancer Center
• Anne-Renee Hartman, Adela
• Minetta Liu, Natera
• Rita Shaknovich, Agilent
• Ajay Gannerkote, Integrated DNA Tech

AI-Informed Biomarker Trials: Turning Early Signals into Actionable Designs
• Chair: Manish Kohli, University of Utah
• Eric Klein, GRAIL
• Sarah Moseley, DELFI Diagnostics
• Samuel Levy, ClearNote Health

Role of AI in Liquid Biopsies & Cancer Detection
• Chair: Amoolya Singh, DELFI Diagnostics
• Ron Andrews, Dxcover
• Pankaj Vats, NVIDIA
• Paul Shi, Amgen Fragmentomics for Early Detection: End Motifs and Library Prep
• Christopher Troll, Claret Bioscience

Integrating Genetic Risk with Early Detection: A Precision Prevention Framework for Cardiovascular Disease
• Paolo Di Domenico, Allelica

AI-Driven Metagenomic and Host RNA Profiling for Precision Diagnosis of Infections
• Charles Chiu, UCSF

AI-Driven Host–Pathogen Signatures from Plasma cfDNA: Bridging Infection Biology and Early Diagnostics
• Sivan Bercovici, Karius

Ultra-Sensitive Multimodal Liquid Biopsy for Early Cancer Detection: AI-Driven Signal Profiling
• John Sninsky, CellMax Life

Overcoming Limits of Traditional cfDNA Assays Using Active Chromatin
• Diana Abdueva, Aqtual

Whole-genome methylome-based early cancer signal detection
• Sally Mackenzie, EpiMethyl Analytics

BrainSee Sees the Brain: FDA-Approved AI for Predicting Modifiable Risk of Developing Alzheimer’s Within Five Year
• Padideh Kamali-Zare, Darmiyan


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
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 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

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.


 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.


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PMWC 2027 Jan. 27-29 • Santa Clara
15 tracks • 400 speakers Co-hosted by Stanford/UCSF/Yale • Davos of PM
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