Mark Daly

Biography
Mark Daly is the founding Chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and is an assistant professor at Harvard Medical School. His research focuses on statistical and computational methods to discover and interpret genetic variation in complex disease, and on bringing genome information into clinical settings. He is also an Institute Member and Co-Director of the Program in Medical and Population Genetics at the Broad Institute, where he leads major sequencing studies in autism and inflammatory bowel disease. His group has major research efforts in neuropsychiatric genetics, particularly autism, schizophrenia, and ADHD, and has led many large GWAS and exome studies. His lab serves as an analytic hub for the Psychiatric GWAS Consortium. He has also led gene mapping in Crohns disease and ulcerative colitis. Daly served as Director of the Institute of Molecular Medicine Finland (FIMM) and received degrees from MIT and Leiden University.

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Talk
Biobanks and the road ahead in human genetics
In the 20 years since the completion of the first human genome, the ability to decode the inherited basis of disease has developed rapidly. Efforts to date have uncovered tens of thousands of genetic variants affecting human disease - from rare Mendelian conditions to cancer to common, chronic diseases in nearly all clinical domains. While this work has taken another leap forward with the introduction of large-scale biobanks such as UK Biobank, FinnGen and All Of Us, it is becoming clear that while variant discovery might be considered a solved problem, our ability to define disease mechanisms and paths to therapeutic remediation from such discoveries is badly lacking. Here we will discuss the challenges to that progress and the potential of new scalable technologies to help accelerate the path from discovery to actionable understanding of mechanism required to ultimately help patients

Gordon Sanghera

Biography
CEO and co-founder of Oxford Nanopore Technologies, pioneering real-time, scalable DNARNA sequencing. With a PhD in bioelectronic technology, he led the company from spinout to global player, transforming genomics with portable sequencing devices. Sanghera champions accessible, decentralized sequencing for research, healthcare, and public health worldwide.

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Talk
In conversation with Gordon Sanghera
Gordon will chart his journey as CEO of Oxford Nanopore, from early vision and product development, through to scaling operations, navigating challenges, achieving their IPO and onward growth since then. He reflects on the importance of culture, innovation and resilient leadership, and how these strong foundations can help to drive the company forward.

J. Craig Venter

Biography
J. Craig Venter is a biologist renowned for his contributions in genomics including sequencing the first draft human genome, the first complete diploid human genome, and construction of the first synthetic bacterial cell.He and his teams current research programs include continued analysis of the human genome with a focus on the intersection of the genome and all physical characteristics and how this relates to disease and health; the human microbiome; synthetic biology advances; infectious disease; and discovering and understanding genetic diversity in the worlds oceans.Dr. Venter pioneered the notion of presymptomatic testing coupled with deep genomic sequencing to assess long term health of individuals. This was the basis for the formation of Human Longevity, Inc. He is currently embarking on a quest to utilize these same concepts but focused on a great area of unmet needwomens health, to build the first of its kind, for-profit, transformative womens health center. The center will encompass standard of care testing along with state of the art genomic and imaging powered by AI to deliver the best care to all women.Dr. Venter began his formal education after a tour of duty as a Navy Corpsman in Vietnam from 1967 to 1968. After earning both a Bachelor of Science in biochemistry and a PhD in physiology and pharmacology from the University of California San Diego, he was appointed professor at the State University of New York at Buffalo and the Roswell Park Cancer Institute. In 1984, he moved to the National Institutes of Health campus where he developed expressed sequence tags or ESTs, a revolutionary new strategy for rapid gene discovery.In 1992, Dr. Venter founded The Institute for Genomic Research (TIGR, now part of JCVI), a not-for-profit research institute, where in 1995 he and his team decoded the genome of the first free-living organism, the bacterium Haemophilus influenzae, using the new whole genome shotgun technique.In 1998, Dr. Venter founded Celera Genomics to sequence the human genome using new tools and techniques he and his team developed. This research culminated with the February 2001 publication of the human genome in the journal, Science. He and his team at Celera also sequenced the fruit fly, mouse, and rat genomes.Dr. Venter is one of the most frequently cited scientists, and the author of more than 280 research articles. He is also the recipient of numerous honorary degrees, public honors, and scientific awards, including the 2008 United States National Medal of Science, the 2002 Gairdner Foundation International Award, the 2001 Paul Ehrlich and Ludwig Darmstaedter Prize, and the King Faisal International Award for Science. Dr. Venter is a member of numerous prestigious scientific organizations including the National Academy of Sciences, the National Academy of Medicine, the American Academy of Arts and Sciences, and the American Society for Microbiology.Dr. Venter is a serial entrepreneur who has co-founded several companies including Synthetic Genomics, Inc., (now Viridos), SGI DNA, (now Telesis Bio) and Human Longevity, Inc. (HLI).He is also the author of The Voyage of Sorcerer II: The Expedition That Unlocked the Secrets of the Oceans Microbiome (Harvard University Press, 2023), Life at the Speed of Light: From the Double Helix to the Dawn of Digital Life (Viking, 2013) and A Life Decoded: My Genome: My Life (Viking, 2007).

Ralph Snyderman

Biography
Ralph Snyderman served as Chancellor for Health Affairs at Duke University from 1989 to July 2004, leading the transition of this excellent medical center into an internationally recognized leader in academic medicine. He oversaw the development of the Duke University Health System and served as its first President and CEO. Dr. Snyderman has played a leading role in the conception and development of personalized healthcare, an evolving model of national healthcare delivery. He has been widely recognized for his contributions to the development of a more rational, effective, and compassionate health care. He was among the first to envision and articulate the need to shift the current focus of healthcare from treating disease events to personalized, proactive, and patient-centered care. The Association of American Medical Colleges has referred to Dr. Snyderman as the father of personalized medicine.

Brook Byers

Biography
Brook Byers has been a venture capital investor since 1972. He has been closely involved with founders to help build more than 60 new science-based companies. He formed the first life sciences practice group in the venture capital profession in 1984 and led Kleiner Perkins to become a premier venture capital firm in the life sciences, healthcare and biotechnology sectors.Brook was the founding president and then chairman of four biotechnology companies that were incubated in Kleiner Perkins offices and went on to become public companies with an aggregate market value of more than US$8 billion. He currently serves on the board of directors of Arsenal Bio, Octave Bio, Newsela and Verana Health. Brook is a Lifetime Board Member of the University of California San Francisco Medical Center. He served on the Board of Trustees of Stanford University and the Georgia Tech Advisory Board. He received an Honorary PhD from Georgia Tech.

Lee Hood

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.

Stephen B. Montgomery

Biography
Dr. Stephen Montgomery is the Stanford Medicine Endowed Professor of Pathology and Professor of Genetics, Biomedical Data Science and, by courtesy, Computer Science at Stanford University. He leads a dynamic lab where his team blends functional genomics and sophisticated bioinformatics to unravel the molecular roots of genetic diseases. His research prominently features in numerous large-scale consortia, such as GTEx and MoTrPAC.Dr. Montgomery's laboratory is renowned for developing innovative transcriptome-based methods. These breakthroughs are pivotal for uncovering impactful rare variants in diverse groups, ranging from individuals and families to broader populations. His approaches are also unique in their ability to measure gene-by-environment interactions.His expertise extends to multi-omics studies of global populations showcasing his labs commitment to inclusive and diverse genomics research. Dr. Montgomery is a leader in the discovery and interpretation of rare variants using multiomics, and his work in building genomic databases for RNA diagnostics sets him apart in the field. He is also a key contributor to the integration of long-read sequencing and RNA sequencing for more accurate variant interpretation, a technique crucial in precision medicine.

Carlos Bustamante

Biography
University of Oklahoma

Howard Jacob

Biography
Howard J. Jacob brings decades of genome knowledge from academia and the clinical setting to address the current state of whole genome sequencing and its potential for both patients and those interested in learning more about their own DNA. He joined AbbVie in January 2019 to lead one of the largest Genomics Research Center efforts in the field with access to over one million genomes and clinical data and has since established the Quantitative Medicine and Genomics function. Jacob earned his Ph.D. at the University of Iowa and then completed a post-doctorate at MIT, Harvard, and Stanford. Prior to his work at AbbVie, he led the clinical teams at the worlds first stand-alone genomic medicine clinic, as well as a whole genome clinical sequencing lab. Jacob has published over 250 peer-reviewed articles. He founded four companies and is on the advisory boards for numerous academic and commercial organizations.

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Talk
Common Diseases Arent Always What They Seem
Despite advances in molecular diagnostics, the effect of rare diseases on the diagnosis of common diseases in clinical trials has not been comprehensively investigated. New data shows the value of systematic genome sequencing in understanding the phenotypic heterogeneity of common diseases and the benefits of molecular phenotyping in patient care.

Mark Daly

Biography
Mark Daly is an institute member and co-director of the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard, where he leads many large-scale genome sequencing studies in autism and inflammatory bowel disease. He is also the founding chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and associate professor at the Harvard Medical School. His research has historically focused on the development and application of statistical methods for the discovery and interpretation of genetic variation responsible for complex human disease, and with the creation of the ATGU, he and other core faculty are focused on the interpretation of genome sequence and the use of genome information in clinical settings.Daly was appointed director of the Institute of Molecular Medicine Finland (FIMM) at the University of Helsinki from February of 2018 through April 2023 while maintaining his lab in Boston. After that, he returned to Boston full-time and now maintains an affiliate position as a researcher at the University of Helsinki. FIMM is a translational research institute focusing on cancer, digital diagnostics, genetics, and epidemiology and is home to landmark efforts such as the FinnGen Project.In addition to developing computational and statistical methods that can be broadly applied, Dalys group has several primary medical genetics research foci. He has an extensive research program in neuropsychiatric genetics particularly in autism, schizophrenia, and ADHD and has led large-scale genome-wide association studies (GWAS) and exome sequencing efforts in this area. Dalys lab and Ben Neale's lab together serve as an analytic hub for the Psychiatric GWAS Consortium, an international consortium leading the largest collaborative GWAS studies in five major psychiatric disorders. Daly also has a longstanding effort in the mapping of genes for Crohns disease and ulcerative colitis, through which he helped found and lead an international effort that has identified more than 150 genetic risk factors and, in collaboration with Ramnik Xaviers group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. Along with Heidi Rehm, he is co-PI of the gnomAD project and is committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.Daly received his B.S. in physics from MIT and his Ph.D. in human genetics from Leiden University, Netherlands.

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Talk
Biobanks and the road ahead in human genetics
In the 20 years since the completion of the first human genome, the ability to decode the inherited basis of disease has developed rapidly. Efforts to date have uncovered tens of thousands of genetic variants affecting human disease - from rare Mendelian conditions to cancer to common, chronic diseases in nearly all clinical domains. While this work has taken another leap forward with the introduction of large-scale biobanks such as UK Biobank, FinnGen and All Of Us, it is becoming clear that while variant discovery might be considered a solved problem, our ability to define disease mechanisms and paths to therapeutic remediation from such discoveries is badly lacking. Here we will discuss the challenges to that progress and the potential of new scalable technologies to help accelerate the path from discovery to actionable understanding of mechanism required to ultimately help patients

Mark McCarthy

Biography
Mark McCarthy is Executive Director of Human Genetics at Genentech, where he leads efforts within the company to use human genetics to advance the understanding of disease and further the development of novel therapeutic and preventative approaches. Prior to his move to the Bay Area in 2019, Mark was Robert Turner Professor of Diabetes Medicine at the University of Oxford. There, his research focused on genetic discovery in type 2 diabetes and related traits, and on using the causal insights derived from those analyses to drive biological inference and translational opportunities.

Howard Jacob

Biography
Howard J. Jacob, Ph.D., brings decades of genome knowledge from academia and the clinical setting to address the current state of whole genome sequencing and its potential for both patients and those interested in learning more about their own DNA. Jacob is the Vice President and Head of Genomics and Data Integration at AbbVie and Distinguished Research Fellow and member of the scientific Governing Board. He joined AbbVie in January 2019 to lead one of the largest Genomics Research Center efforts in the field with access to over one million genomes and clinical data. In addition, he leads AbbVies RD-wide Data Integration Program (called Convergence) which brings together all types of data to create knowledge to solve and ultimately improve treatment for patients. The Convergence team recently launched the AbbVie Research Collaborative, a health data platform that enables patients to share their health data with AbbVie researchers to help advance the development of new medicines.Jacob earned his Ph.D. at the university of Iowa and then completed a post-doctorate with Eric Lander and Victor Dzai at MIT, Harvard, and Stanford. Prior to his work at AbbVie, he led the clinical teams at the worlds first stand-alone genomic medicine clinic, as well as a whole genome clinical sequencing lab. Jacob has published over 250 peer-reviewed articles. He founded four companies and is on the advisory boards for numerous academic and commercial organizations.As a pioneer and leader in genomics, in 2009, Howard and his team at the Medical College of Wisconsin were the first in the world to use genomic sequencing to save the life of a patient, Nicholas Volker. Nicholas story was highlighted in a Pulitzer Prize winning series in the Milwaukee Journal Sentinel.

Hanlee Ji

Biography
Dr. Hanlee P. Ji is leveraging his expertise in oncology, genetics, and engineering to drive advancements in cancer research. His work integrates molecular technology, computational methods, and genome biology to develop targeted therapies for gastrointestinal cancers and study genomic instability. As a senior figure at the Stanford Genome Technology Center, Dr. Ji's research encompasses immunogenomics, kinase interactions for targeted therapy, and innovative data storage using DNA technologies. He is also involved in clinical trials and translational genomics, aiming to bring scientific discoveries from bench to bedside.

Gordon Sanghera

Biography
CEO and co-founder of Oxford Nanopore Technologies, pioneering real-time, scalable DNARNA sequencing. With a PhD in bioelectronic technology, he led the company from spinout to global player, transforming genomics with portable sequencing devices. Sanghera champions accessible, decentralized sequencing for research, healthcare, and public health worldwide.

Ben Neale

Biography
Benjamin Neale is a core institute member at the Broad Institute of MIT and Harvard, where he is also co-director of the Stanley Center for Psychiatric Research. He also serves as associate director of flagship disease projects for the Novo Nordisk Foundation Center for Genomic Mechanisms of Disease at the Broad. He is an associate professor in the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital (MGH), where he directs the Genomics of Public Health Initiative. He is also an associate professor in medicine at Harvard Medical School (HMS). Neale is strongly committed to gaining insights into the genetics of common, complex human diseases with a heavy emphasis on severe mental illnesses.

Nilah Ioannidis

Biography
Prof. Nilah Ioannidis has a joint appointment in EECS and the Center for Computational Biology (CCB). Her group works on computational methods to analyze and interpret personal genomes, including machine learning and deep learning methods to predict the clinical impact of genome variation and to model variation in gene expression and other molecular and cellular phenotypes.Dr. Ioannidis was previously a postdoctoral scholar in the Department of Biomedical Data Science at Stanford University, where she worked on several machine learning tools to predict the pathogenicity of single nucleotide variants, including the ensemble predictor REVEL for missense variants. During her PhD in Biophysics at Harvard University, she worked in the Department of Biological Engineering at MIT and developed methods to analyze the dynamics of intracellular particles using hidden Markov modeling and Bayesian inference. She also previously served as Research Director at the Jain Foundation, a non-profit foundation focused on the rare genetic disease dysferlinopathy.

Manuel Rivas

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 Crohns disease risk.

Russ B Altman

Biography
Russ Biagio Altman is the Kenneth Fong Professor of Bioengineering, Genetics, Medicine, Biomedical Data Science and (by courtesy) Computer Science) and past chairman of Bioengineering at Stanford University. His research uses computing to understand drug action at molecular, cellular, organism and population levels. He founded the PharmGKB, is an Associate Director of the Stanford Institute for HumanCentered AI, and coleads an FDA Center of Excellence. He is a member of the National Academy of Medicine, past president of the International Society for Computational Biology and of the American Society for Clinical Pharmacology Therapeutics. He chaired the FDA Science Board and served on the NIH Directors Advisory Committee. He has received Stanford awards for Teaching and Mentorship. He coorganizes the Pacific Symposium on Biocomputing, and is a founder of Personalis (NASDAQ: PSNL). He is founding editor of the Annual Reviews of Biomedical Data Science, and hosts a podcast entitled "The Future of Everything."

Slavé Petrovski

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 AstraZenecas Centre for Genomics Research (CGR) Slavé is accountable for architecting and delivering the companys Genomics Initiative strategy. He has built in-house capabilities and expertise across key domains: Bioinformatics, Statistical Genetics, Innovative AIML methods, multi-omics, and clinical sciences. Applying these cross-disciplinary skills to large-scale omics datasets.

Razelle Kurzrock

Biography
Dr. Kurzrock is a boardcertified medical oncologist and a renowned expert in precision medicine. She developed one of the worlds largest Phase I clinical trial programs while at MD Anderson Cancer Center. Dr. Kurzrock also founded the UCSDs Center for Personalized Cancer Therapy, focusing on genomicallydriven therapy as well as precision immunotherapy, especially in rare cancers. Dr. Kurzrock brought the first transcriptomic study to the clinic in an international setting spanning five countries (WINTHER), as well as the first Nof1 study of individually customized combination therapy (IPREDICT). Dr. Kurzrock received her MD from the University of Toronto, Canada. She has 900 PubMed publications, an Hindex of 140, has been named to the lists of most highly cited scientists in the world. She has a uniquely strong record of competitive funding with 100 million dollars in lifetime funding, and has overseen early development of multiple drugs that are now FDA approved.

Barrett Bready

Biography
Barrett Bready, was founder of Nabsys and CEO from 2005 until 2014 and then again starting in October, 2015. He grew Nabsys from a single employee to 50 and raised $50 million in venture financing to support the companys growth. Barrett Bready is an adjunct professor at Brown University where he teaches Biotechnology Management, a course on thebusiness of biotechnology. He serves as a commissioner of the I-195 Redevelopment District Commission, a large land redevelopment project in downtown Providence with a focus on life sciences and other high technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year from Providence Business News. Barrett Bready received an M.D. and an Sc.B. in physics from Brown University, both as part of Browns Program in Liberal Medical Education (PLME).

Mark Daly

Biography
Mark Daly is an institute member and co-director of the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard, where he leads many large-scale genome sequencing studies in autism and inflammatory bowel disease. He is also the founding chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and associate professor at the Harvard Medical School. His research has historically focused on the development and application of statistical methods for the discovery and interpretation of genetic variation responsible for complex human disease, and with the creation of the ATGU, he and other core faculty are focused on the interpretation of genome sequence and the use of genome information in clinical settings.Daly was appointed director of the Institute of Molecular Medicine Finland (FIMM) at the University of Helsinki from February of 2018 through April 2023 while maintaining his lab in Boston. After that, he returned to Boston full-time and now maintains an affiliate position as a researcher at the University of Helsinki. FIMM is a translational research institute focusing on cancer, digital diagnostics, genetics, and epidemiology and is home to landmark efforts such as the FinnGen Project.In addition to developing computational and statistical methods that can be broadly applied, Dalys group has several primary medical genetics research foci. He has an extensive research program in neuropsychiatric genetics particularly in autism, schizophrenia, and ADHD and has led large-scale genome-wide association studies (GWAS) and exome sequencing efforts in this area. Dalys lab and Ben Neale's lab together serve as an analytic hub for the Psychiatric GWAS Consortium, an international consortium leading the largest collaborative GWAS studies in five major psychiatric disorders. Daly also has a longstanding effort in the mapping of genes for Crohns disease and ulcerative colitis, through which he helped found and lead an international effort that has identified more than 150 genetic risk factors and, in collaboration with Ramnik Xaviers group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. Along with Heidi Rehm, he is co-PI of the gnomAD project and is committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.Daly received his B.S. in physics from MIT and his Ph.D. in human genetics from Leiden University, Netherlands.