The Center for Precision Medicine Research (CPMR) conducts basic and translational research to investigate the role of genetics and gene-environment interactions that influence human health disorders. The center is focused on doing investigator-initiated research in the arena of precision medicine. The vision of CPMR is to be innovative in genomic medicine and to add scientific insights that can be translated into improved patient care.

CPMR was formed in 2018 to combine the strengths of our former center, Center for Human Genetics and the Bioinformatics Research Center to create knowledge that enables precision medicine and translate our research findings to improve patient care. Our center has a note worthy history in genetics research and it has been recognized for genotyping short-tandem repeat polymorphisms (microsatellites) to create the Marshfield Human Genetic Linkage Maps. We have been part of the eMERGE (Electronic Medical Records and Genomics) Network since 2007. Now, our center (and MCHS) is one of ten recipients of the National Institute of Health’s prestigious All of Us Research Program.

CPMR is home to the Personalized Medicine Research Project (PMRP) launched in 2002. The PMRP is a population-based research biobank of clinical samples collected from approximately 20,000 Central Wisconsin residents, that are linked to their electronic health records as a resource for genomics research. In addition to PMRP, CPMR scientists are involved in multiple research studies, including genetic and immune biomarkers discoveries for human diseases, the Precision Medicine Initiative study and the interaction of genetics and gut microbiome in human diseases.

CPMR seeks to create opportunities for increased interaction with researchers at other academic and research institutions, allowing its scientists to be part of a larger group of peers with diverse scientific expertise and providing pharmacogenomics expertise and engagement about the benefits of genomic medicine to healthcare providers in Marshfield Clinic Health System.

CPMR conducts interdisciplinary and collaborative research in the following areas:

Congenital disease genetics

Tonia Carter, PhD, applies genomic technologies to investigate the genetic mechanisms of congenital disorders. A greater knowledge of these mechanisms can reveal the causes of these disorders and be translated into new interventions for treatment and prevention of these disorders. Dr. Carter is interested in integrating genomic data on long-range chromatin interactions, epigenetic marks, regions of chromatin accessibility, and gene expression to understand gene regulation in oral clefts. Dr. Carter’s research on congenital heart defects involves combining data on genetic variants from affected patients with data on gene expression during heart development to identify the genes that are contributors to congenital heart defects.

Bench-to-bedside

Scott Hebbring, PhD, is conducting the Precision Medicine Initiative (PMI) study. Precision Medicine Initiative (PMI) PMI is designed to translate what was learned in research to improve individual patient health. Nearly 3,000 Marshfield Clinic Health System patients were genetically screened for clinically actionable variants. Genes evaluated include those linked to often deadly diseases where early intervention can improve health outcomes (e.g., cancer and heart disease).  Also screened are genes that influence how people respond to specific medications.  It is expected nearly 2% of patients carry disease genes while everyone has genetic profiles that can influence drug response.  These genetic results are retuned directly to the patient, the patient’s doctor, and entered into Marshfield Clinic Health System’s electronic medical record. Further, decision support tools are being developed to assist healthcare providers with using the genetic data in clinical decision making.

Bioinformatics and artificial intelligence in disease

The research of Srinivasulu Sathipati, PhD, focuses on applications of bioinformatics in cancer research with the goal of identifying important biomarkers in various cancers, which would help in biomarker discovery and personalized medicine. Dr. Sathipati is interested in developing novel, computational methods for identifying microRNA and gene signatures for early-stage detection and survival estimation in patients with various cancers using bioinformatics/machine learning techniques. Additional areas of Dr. Sathipati’s research include integrating bioinformatics and OMICS data to establish a biomarker signature platform, which provides important biomarker signatures associated with various cancers, and applying machine learning/artificial intelligence to multi-disciplinary areas, including bioinformatics, cancer research, precision medicine, neurological diseases, and COVID-19.

Biomarkers of infectious and complex diseases

Dr. Sanjay Shukla’s research focus is broad and includes, but is not limited to, discovering host immune biomarkers, understanding precise host-pathogen interactions, targeted antimicrobial combinatorial therapy for Staphylococcus aureus bacteremia, and biomarker discovery for chronic diseases such as fatigue, multiple sclerosis, and type 2 diabetes through gut microbiomics, viromics, and metabolomics approaches. In addition, he is investigating occupational exposure and health risk related to the microbiome and resistome in dairy farm workers. Dr. Shukla is also working with colleagues to promote the implementation of cancer genomics and pharmacogenetics testing towards improved patient care.

Cancer biology and genetics

Zhi Wen, PhD, uses multi-disciplinary techniques in molecular and cellular biology, OMICS methods, and animal models to address the roles of human tumor viruses in cancer initiation, the mechanisms by which long non-coding RNAs regulate cancer metastasis, and genetic predispositions of nuclear receptors to cancer. These projects in cancer biology and cancer prevention will be combined with the application of high-throughput drug screening approaches in translational studies to develop personalized chemotherapy in cancer. Dr. Wen’s research bridges the bench (laboratory), cage (animal models), computer (bioinformatics), and the bedside (translational research).

Personalized Medicine Research Project

CPMR developed and maintains the Personalized Medicine Research Project (PMRP), Personalized Medicine Research Project (PMRP) a bio-bank of DNA, plasma, and serum samples linked to Marshfield Clinic Health System’s electronic health records of nearly 20,000 consented adults. The PMRP is a population-based resource to facilitate genomic research, and the goal of PMRP is to translate genetic data into knowledge about disease that is clinically relevant and will enhance patient care. PMRP participants are 57% female and 98% Caucasian, and are representative of the adult population of Central Wisconsin, an area where most residents choose to receive medical care at Marshfield Clinic Health System.

All of Us Research Program

Marshfield Clinic Research Institute is a recipient of research funding from the National Institutes of Health’s All of Us Research Program. All of Us Research Program MCRI is the lead site in Wisconsin for this prestigious Research Program, with collaborators at the University of Wisconsin – Madison School of Medicine & Public Health, Froedtert & the Medical College of Wisconsin, and Gundersen Health System. This program is a momentous effort to advance individualized prevention, treatment, and care for people of all backgrounds based on their genetic profile and lifestyle. We are one of the leading sites nationwide in terms of recruitment efforts. The catchment area of the Wisconsin consortium covers 80% of the state, thereby reflecting the true diversity of the state including both rural and urban populations. For additional information, including how to participate, visit JoinAllofUs.org, email allofus@marshfieldresearch.org, or call (888) 633-9987.

We seek to engage in collaborative research using multi-OMICS approaches, and interested researchers are encouraged to contact Dr. Sanjay Shukla, CPMR Director, for identifying collaborative opportunities with CPMR scientists.