Precision Medicine Seminar Series (PMSS)

Dr. Carpenter is a physician scientist in gastroenterology specializing in benign and malignant pancreatic diseases at the University of Michigan. Her work focuses on leveraging endoscopic fine needle biopsies to study changes in the tumor microenvironment using longitudinal matched samples in patients pre- and post-chemotherapy, with the goal of identifying new immunotherapeutic targets to overcome chemo-refractory disease. Dr. Carpenter is interested in understanding the pathogenesis of how neoplastic lesions (pancreatic cysts and pancreatic intraepithelial neoplasias) progress to pancreatic cancer to better develop early detection methods.

“Tracing Pancreatic Ductal Adenocarcinoma (PDAC) through Space and Time”

Dr. Kurzrock is a world-renowned leader in precision oncology and rare cancers research. She is recognized as one of the world’s 25 most important voices in precision medicine and is one of the most highly cited scientists globally. Dr. Kurzrock is the Chair for the Early Therapeutics and Rare Cancers Committee (SWOG NCI) — one of the largest clinical trials cooperative groups in the country — and has been the principal investigator for more than 100 early-phase clinical trials, leading eight life-changing drugs to FDA approval. In 2022, Dr. Kurzrock and the DART rare cancer study team received the National Cancer Institute Director’s Award of Merit for outstanding work.

“Precision Oncology: The Emperor of all Maladies has No Clothes”

Dr. Sana Syed is a physician-scientist specializing in pediatric gastroenterology, as well as an Associate Professor in both the University of Virginia School of Medicine and School of Data Science. The Syed Lab focuses on improving global health and combating childhood undernutrition by using cutting-edge molecular and data science techniques to study intestinal structure and function of inflammatory diseases of the gastrointestinal tract, such as Crohn’s disease, celiac disease, and environmental enteric dysfunction. Dr. Syed co-founded and directs the multi-disciplinary Gastroenterology Data Science Lab, which develops and applies these novel computational approaches to better understand disease and change clinical paradigms.

“Artificial Intelligence in Precision Medicine: Improving the Diagnosis of Pediatric Enteropathies”

Dr. Adrian Lee is Director of the Institute for Precision Medicine, a joint effort by UPMC and the University of Pittsburgh to move biomedical research into personalized well-being and clinical care.

Dr Lee has published over 120 peer reviewed research articles. His laboratory is also supported by funding from the Department of Defense, Susan G. Komen for the Cure, Breast Cancer Research Foundation, and other sources. Dr. Lee is on the Scientific Advisory Council for Susan G. Komen for the Cure. Dr. Lee serves on numerous national peer-review committees, and is on the Editorial Board’s of several journals.

“Implementing precision medicine in a large healthcare system”

Dr. Wangler is a physician-scientist and pediatrician at the Texas Children’s Hospital and co-director of the Model Organism Screening Center (MOSC) of the Undiagnosed Diseases Network (UDN). His lab studies rare human disease phenotypes in order to gain insight into general principles of human health. Methods include clinical studies in rare disease, genomics and model organism genetics particularly Drosophila melanogaster.

“Model Organism Screening in Undiagnosed Disease”

Dr. Pranesh Chakraborty is a physician certified by the Royal College in medical biochemistry and pediatrics, with a subspecialty in biochemical genetics. He joined the Children’s Hospital of Eastern Ontario (CHEO) in 2003 as a clinician seeing patients with inborn errors of metabolism (IEM). In 2006, he led the transition of Ontario’s newborn screening program to Ottawa, leading to the establishment of Newborn Screening Ontario at CHEO. In 2008, he was instrumental in the founding of the Better Outcomes Registry and Network (BORN Ontario) at CHEO as a prescribed registry in Ontario. Dr. Chakraborty is a principal investigator for the Canadian Inherited Metabolic Disease Research Network, which recently was awarded a $1.5M CIHR Emerging Teams grant for rare disease research. Throughout his career, he has been involved in clinical and translational research related to IEMs.

“What’s on the horizon for newborn screening?”

Dr. Davoli’s lab focuses on dissecting the causes and consequences of chromosome gains and losses in solid tumors, including oral, colorectal, breast cancer and melanoma. Dr. Davoli proposed for the first time that recurrent chromosome gains and losses in cancer act as driver events (Davoli et al., Cell 2013; Sack, Davoli et al. Cell, 2018). Dr. Davoli recently found that tumors with a high level of aneuploidy tend to be immune cold and to be refractory to immunotherapy (Davoli et al., Science 2017). More recently, through a collaborative effort, her lab found that tumors bearing 9p loss tend to be immune cold and to be refractory to immunotherapy (William et al., PNAS 2021 and Zhao et al., submitted). Her long-term goals are to decipher how aneuploidy can be utilized as a biomarker for therapy response and as a potential target for novel cancer treatments that take advantage of synthetic lethalities associated with the aneuploid state.

“Dissecting the role of aneuploidy in human cancer”

Dr. Taylor received her PhD from Harvard University working in the laboratory of Dr. Leonard Zon, studying ribosomal protein mutations in blood development and disease. For her postdoctoral fellowship, she entered the field of cancer genomics in the laboratory of Dr. Matthew Meyerson, located at the Dana-Farber Cancer Institute and Broad Institute. The goal of the Taylor lab is to understand the role of aneuploidy, whole chromosome or chromosome arm imbalance, in the development of cancer. Using functional genomics, genome engineering methods, and analysis of patient genomic data, her lab studies the effects of aneuploidy on signaling and cell fate.

“Functional and computational approaches to uncover selection advantages of cancer aneuploidy”

Bauer is a Principal Investigator and Staff Physician at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Assistant Professor of Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute, and Associate Member of the Broad Institute of MIT and Harvard. His honors have included the American Society of Clinical Investigation Young Physician-Scientist Award (2014), NIH Director’s New Innovator Award (2016), Society for Pediatric Research’s Young Investigator Award (2017), and Foundation for the National Institutes of Health Trailblazer Prize for Clinician-Scientists Finalist (2018).

“Therapeutic gene editing of hematopoietic stem cells for hemoglobinopathies and bone marrow failure disorders”

Dr. Luis Carvajal-Carmona is the Associate Vice Chancellor for the Office of Academic Diversity and a professor of Biochemistry and Molecular Medicine. He holds the Auburn Community Cancer Endowed Chair in Basic Science in the University of California Davis (UCD). He is also the Associate Director for the Inclusivity, Diversity, Equity and Accessibility (IDEAL) Office, and the Founder Director of the Latinos United for Cancer Health Advancement (LUCHA) Initiative and of the Center for Advancing Cancer Health Equity at the UCD Comprehensive Cancer Center. At the UCD Clinical and Translation Science Center, he co-directs of the Community Engagement Program. Dr. Carvajal-Carmona specializes on cancer genetics, epidemiology, health disparities and global health. He has discovered multiple cancer susceptibility genes and variants and has published over 100 manuscripts in influential journals such as Nature Genetics, Gastroenterology, American Journal of Human Genetics, Lancet Gastroenterology and Hepatology and PNAS.

“Advancing gastric cancer genomic disparities in Latinos”

Dr. Emily Hammad Mrig is an Assistant Professor at the University of California San Francisco Department of Clinical Pharmacy and at the Center for Translational and Policy Research on Precision Medicine (TRANSPERS); she is also an affiliate faculty member at the UCSF Institute for Health Policy Studies. Prior to joining the UCSF faculty, Emily completed a postdoctoral fellowship in the Department of Health Policy and Management at the Yale University School of Public Health. Emily is an interdisciplinary scholar with diverse training and experience in public health, health policy, and social science that she applies to investigate inequities in access to health care, especially in the context of precision medicine, cancer, and end-of-life care. Her research engages qualitative and quantitative approaches that integrate diverse perspectives on key health policy and insurance coverage issues to promote equitable access to health and healthcare. Current projects include investigating barriers to genomic medicine among individuals with hereditary conditions and examining state-based consumer assistance programs.

“Challenges and opportunities to paving the path to broad and equitable implementation and clinical adoption of precision medicine”

Dr. Paraic Kenny is the Director of the Kabara Cancer Research Institute of the Gundersen Medical Foundation, and is a Clinical Adjunct Associate Professor of Medicine at the University of Wisconsin School of Medicine and Public Health in Madison and an Adjunct Associate Professor of Biology at the University of Wisconsin – La Crosse. The KCRI also houses the CAP-accredited Gundersen Cancer Biobank with more than 15,000 solid tumor specimens.

Precision Oncology Research & Practice at the Gundersen Health System

Dr. Subhajyoti De is a tenured Associate Professor in the Department of Pathology at Rutgers University. His research group uses systems biology approaches to identify fundamental principles of evolvability of tumor genomes and tumor-microenvironment interactions, and applies that knowledge to advance precision medicine. Dr. De received his PhD from University of Cambridge, UK and did his postdoctoral research at Dana Farber Cancer Institute with Human Frontier Sciences Program fellowship, before starting his own group. Dr. De is also an educator, mentor, and inventor. He is a Fellow of the Rutgers Leadership Academy and an Associate Editor for NAR – Cancer, a peer-reviewed journal from the Oxford University Press.

Multi-dimensional interactions modulate pancreatic tumor microenvironment

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Dr. Hayeems is a Scientist in Child Health Evaluative Sciences (CHES) at The Hospital for Sick Children (SickKids) and an Associate Professor in the Institute of Health Policy, Management and Evaluation (IHPME) at the University of Toronto. Dr. Hayeems is trained in genetic counselling (ScM, Johns Hopkins University), public health and bioethics (PhD, University of Toronto), health policy research (University of Toronto, IHPME Postdoctoral Fellowship) and health services research (University of Toronto, Institute for Clinical and Evaluative Sciences Postdoctoral Fellowship).

Hayeems’ research focuses on the development and implementation of high-quality genomic screening and diagnostic tools for the maternal-child health context. Using applied health services and policy research methods, her work focuses on the delivery, evaluation and governance of genomic screening and diagnostic tools in the prenatal, newborn and early childhood periods. As a member of several provincial advisory committees, her work informs and is informed by policy development in this area.

Genome diagnostics: Novel strategies for measuring value

Matt Anderson is an Associate Professor in the Department of Microbiology and the Department of Microbial Infection and Immunity at Ohio State. His work focuses on the role of microbial eukaryotes to health and disease in humans. More recent investigations have expanded to define the composition of microbial eukaryotes in the human microbiome and their contributions to autoimmunity in partnership with a Lakota nation in South Dakota. He currently serves as the co-director of the Summer internship of INdigenous peoples in Genomics (SING USA) program and as co-director and founder of the Indigidata program.

Empowerment through Indigenous research and data management capacity

David Bick MD is the Principal Clinician for the Newborn Genomes Programme at Genomics England. Prior to his work in England, he was the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. Dr. Bick also served as the Medical Director of the Smith Family Clinic for Genomic Medicine located on the campus of HudsonAlpha Institute for Biotechnology and the Laboratory Director of the HudsonAlpha Clinical Services Laboratory.

He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews. Dr. Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States.

Newborn screening by whole genome sequencing – opportunities & challenges

Dr. Akinyemi I. Ojesina is an Assistant Professor in the Department of Epidemiology and an Associate Scientist in the O’Neal Comprehensive Cancer Center at the University of Alabama at Birmingham. He obtained his medical degree with Distinction in Biochemistry from the University of Ibadan, Nigeria, received his PhD from Harvard University and completed his postdoctoral work in cancer genomics and pathogen discovery at the Dana-Farber Cancer Institute and Broad Institute of Harvard and MIT.

The work in the Ojesina Oncopathogenomics Lab focuses on investigating tumors as an ecosystem in which microbes (viruses, bacteria, etc) synergize with genomic alterations to facilitate cancer. This research lies at the nexus of translational genomics, metatranscriptomics, integrative molecular epidemiology, precision oncology, virology, tumor microbiome, immunotherapy and global health, with the goal of facilitating the development of diagnostic biomarkers and predictive models for early detection, prevention and treatment of cancer.

Dr. Ojesina is a leading expert in the genomics of infection-related cancers, and was one of the leaders of the Cancer Genome Atlas (TCGA) Cervical Cancer Analysis Working Group.

Of Bugs and Crabs: Interplay of Microbial Influences and Genomic Alterations in Cancer