The scientific mission of the Center for Human Genomics and Precision Medicine (CHGPM) is organized around six thematic Programs:
Over 20 million Americans are living with a rare genetic disease, many of which remain to be discovered. The Rare Disease Program’s goals are to help individuals burdened by these disorders, trial new diagnostics, and analytics, and advance our knowledge of how genetic variation affects health and well-being.
Program Members direct the UW Undiagnosed Genetic Disease Program (UW-UGDP), a clinical research initiative that evaluates children and adults with rare genetic disorders who have not been diagnosed using conventional clinical means. The UW-UGDP focuses on providing diagnoses and actionable knowledge for these individuals, discovering new disease genes, improving our understanding of the pathobiology of genetic disorders, and piloting the clinical application of novel genomic technologies.
Contact: Stephen Meyn
Cancer is a group of diseases caused by abnormal changes in the genome. Recent technical advances now allow us to better understand the nature of these changes and their significance. The Cancer Genomics Program’s goal is the lessen the impact of cancer by advancing our understanding of the roles genetics and epigenetics play in cancer and using this knowledge to devise and implement personalized prevention and treatment strategies.
Program Members carry out both bench research and clinical trials and are involved in the Wisconsin Precision Medicine Molecular Tumor Board, a statewide service available to patients and oncologists throughout Wisconsin.
Contact: Mark Burkard
Advances in sequencing platforms and genomic analyses are driving a revolution in molecular testing. The Novel Diagnostics Program’s goal is to use these new technologies to improve our ability to diagnose, assess, and predict genetic disorders.
Program Members are developing and piloting new diagnostic and predictive tools that will improve our ability to diagnose rare genetic disorders, interpretate the clinical significance of genomic variants, predict prognosis and follow treatment responses.
Contact: Muhammad Murtaza
Ethical, Legal, and Social Implications – ELSI
As a new paradigm, the incorporation of genomics into clinical practice raises many ethical and legal questions as well as creates multiple policy dilemmas. The ELSI Program’s goal is to lead examinations of these issues and drive the development of practical solutions that attend to the needs of multiple stakeholders, while privileging the needs of patients and their families.
Program Members are studying patients’ experiences with genomic medicine, developing tools for measuring the utility of genetic testing, and guiding institutional and governmental policies regarding the use of genomic testing.
Gene editing and other technologies have now evolved to the point that gene therapy and other molecular interventions are feasible. The Interventional Genomics Program’s goal is to create and help trial novel therapeutic strategies aimed at treating common and rare genetic disorders.
Program Members are developing novel tools for gene editing and new vector delivery systems for gene therapy, as well as participating in clinical trials of novel therapeutics.
Contact: Kris Saha
Population Health Genomics
Genetic factors affect everyone’s health through their involvement in both rare and common diseases. For this reason, it is critical to understand genetic variation in different populations and develop practical strategies to equitably bring the benefits of genomic medicine to all of us. The Population Health Genomics Program’s goal is to improve health by advancing our knowledge of genetic risk factors in different populations and piloting population-based approaches to identifying and managing genetic health risks.
Program Members are developing novel genomics-based population-based screening for cancer and cardiovascular disease. The Population Health Genomics Program supports the PHOuR project, UW Health’s novel population-based predictive genomics effort to quantify and manage breast cancer risk.
Contact: Mei Baker