Precision Medicine Seminar Series

Dr. 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

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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

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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

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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

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Mark Craven is a professor in the Department of Biostatistics and Medical Informatics at the University of Wisconsin, and an affiliate faculty member in the Department of Computer Sciences. The focus of his research program is to develop and apply machine-learning methods to infer models of networks of interactions among genes, proteins, clinical variables, environmental factors, and phenotypes of interest. He leads the Biostatistics and Bioinformatics Core of the Children’s Respiratory and Environmental Workgroup (CREW), which is the pediatric asthma project in the NIH Environmental Influences on Child Health Outcome (ECHO) program. He is also the Director of the NIH/NLM-funded Computation and Informatics in Biology and Medicine (CIBM) Training Program, and a member of the Center for Genomic Science Innovation, the Institute for Clinical and Translational Research, and the Carbone Cancer Center. He currently serves on the National Advisory Council for Human Genome Research (NHGRI Council) and as the co-chair of the NHGRI Genomic Data Science Working Group.

A Perspective on Recent Trends in Data Science for Human Genomics

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Dr. Jane Churpek is an Assistant Professor in the Division of Hematology, Medical Oncology, and Palliative Care at The University of Wisconsin-Madison. She is Board Certified in Internal Medicine, Hematology, and Oncology. In her clinical practice, she cares for adults with low blood counts due to acquired and inherited causes, including clonal hematopoiesis and inherited bone marrow failure syndromes, and performs diagnosis and management of diverse predisposition syndromes such as familial leukemia, Li Fraumeni syndrome, BAP1 syndrome, etc. She runs a translational research program aimed at defining the inherited basis of cancer and bone marrow disorders, especially among understudied tumors and blood disorders. Her goal is to improve diagnosis, early detection, treatment and, ultimately, prevention of morbidity and mortality for patients with these disorders. Dr. Churpek has contributed to the understanding of several novel hereditary blood cancer predisposition syndromes and the role of inherited predisposition in exposure associated cancers such as therapy-related leukemia and mesothelioma.

Inherited Cancer Susceptibility: Windows into Etiology and Biology

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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

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Dr. Hess is an Assistant Professor in the Department of Biomolecular Chemistry and the Center of Human Genomics and Precision Medicine. Before arriving at UW-Madison, Dr. Hess received his undergraduate degree in chemistry and physics from Harvard University and then his PhD in Biophysics, also from Harvard University while studying with Angela Belcher from MIT. For his thesis work, he established a labeling method for M13 bacteriophage to generate higher-order nano-material scaffolds and led a project to employ high-throughput sequencing for improved peptide phage display.

His interests lie within building new functional genomics tools to dissect the link between genotype and phenotype. Using these tools, he will investigate mechanisms of DNA repair, therapeutic response, and pathogens, which will enhance the treatment and diagnosis of patients.

High-throughput functional genomics for studying fundamental biology and improving human health

Dr. Lo Sardo was born and raised in Italy. She graduated from college at the University of Milan, in Pharmaceutical Biotechnology. She then continued and earned her PhD in Biotechnology at the University of Milan, working with Dr. Elena Cattaneo in the laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases. During her training, she developed extensive expertise in generating, culturing, differentiating, and manipulating mouse and human pluripotent stem cells (PSCs). During her PhD, she focused on rare genetic variants and neurological diseases. In particular, she studied the gene product of Huntington Disease, huntingtin, during early neuronal development. This work described for the first time an unknown function of huntingtin protein in regulating cell adhesion in the developing nervous system. Moreover, these studies elucidated how huntingtin evolved in different species to acquire specific neural functions only in organisms with complex nervous system.

Next, Dr. Lo Sardo moved to US for her postdoctoral studies and joined The Scripps Research Institute in La Jolla, California. Her work in Dr. Kristin Baldwin’s laboratory focused on understanding genomic variations and cell fate determination. Her postdoctoral research focused on human-specific functional genomics, using reprogramming technology and iPSC differentiation assays. She did seminal work on the functional annotation of cardiovascular disease genetic risk factors. In particular, she studied the function of the 9p21 cardiovascular disease risk locus, the most common and influential genetic risk factor for coronary artery disease (CAD), the first cause of death worldwide. By using iPSC-isogenic lines and precision large-scale genome editing, her studies uncovered new gene networks involved in the pathogenesis of CAD, highlighting the major role of Vascular Smooth Muscle Cells (VSMCs) as a key cellular type. Dr. Lo Sardo’s contribution to these discoveries was recognized by high-impact first-author publications. Dr. Lo Sardo also implemented public resources in the Stem Cell field by generating a large collection of iPSCs from donors at an advanced age, deposited at WiCell and, as part of training effort of the American Society for Neuroscience, providing protocols used to consolidate and standardize the use of stem cells in neuroscience.

Dr. Lo Sardo joined UW-Madison in September 2020. Her lab combines the use of pluripotent stem cells and functional genomics to understand how common genetic variants among individuals, including those in non-coding portions of the genome, contribute to altering cell physiology, cell state, and fate commitment. Emphasis is posed on understanding non-coding risk factors, cell-type vulnerability, as well as ethnicity-based vulnerability to human diseases. Using multidisciplinary approaches, including pluripotent stem cell differentiation, genome editing, transcriptomics, and imaging, her lab aims to identify new molecular mechanisms triggering cardiovascular disease and cancer.

Deciphering the non-coding genome with iPSCs and genome editing

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine and Director of Clinical Genetics.  She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.  Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease.  She is a national leader in the ethical, legal, and social implications of genomics.  She leads the Precision Medicine Resource in the Irving Institute At Columbia University.  She has authored over 500 peer reviewed papers and 75 reviews and chapters in medical texts.  She was the recipient of the Medical Achievement Award from Bonei Olam, the NY Academy of Medicine Medal for Distinguished Contributions in Biomedical Science, the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians.  Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.

Genomic Medicine: Opportunities and Challenges