Penn State and Geisinger Announce Establishment of Medical Bioinformatics and Genomics Research Collaborative

Marylyn Ritchie

Marylyn Ritchie, professor of biochemistry and molecular biology and director of the Center for Systems Genomics in the Huck Institutes of the Life Sciences at Penn State University, will lead a collaborative effort between Penn State and Geisinger Research to connect the genome data of 100,000 anonymous patients with their medical histories, in order to identify the genetic and environmental basis of human disease. This new program was developed to harness the data resources being generated through a large-scale DNA-sequencing project at Geisinger in collaboration with Regeneron Pharmaceuticals, where at least 100,000 Geisinger patients will be sequenced over the next five years. In recognition of Richie's key role in this groundbreaking effort, she was named the founding director of the new Biomedical and Translational Informatics Program of Geisinger Research.

Illustration showing a DNA molecule unwinding from a chromosome inside the nucleus of a cell. Credit: National Human Genome Research Institute

Ritchie noted that "This collaboration with Geisinger provides an enormous opportunity for faculty, graduate students and post docs across Penn State to engage in discovery that seeks to improve human health." As part of her role as director, Ritchie will work to recruit additional researchers to build the new Geisinger program while continuing to promote collaborations between Geisinger and her Penn State colleagues. Ritchie said, "Geisinger has a unique and robust resource for big-data analysis and Penn State has phenomenal data-science researchers. It is a perfect combination."

Screenshot from a DNA sequencing machine at the National Institutes of Health Intramural Sequencing Center, Rockville, MD. Credit: Alice Young, Bob Blakesley

Scott Selleck, head of the Department of Biochemistry and Molecular Biology at Penn State, stated "The union of genomics and computational biology expertise at Penn State with the large and rich data set made possible by the Geisinger-Regeneron collaboration is a powerful combination." The collaborative project between Penn State and Geisinger is a natural extension of the Dr. Ritchie's work for the past ten years, linking phenotypes from electronic medical records with genetic and genomic data. Doug Cavener, Dean of the Eberly College of Science added that "the potential for discovery of genetic and environmental contributors to major diseases such as diabetes, cardiovascular disease, cancer, and neurological diseases of this research program is astounding and will ultimately lead to improvements in disease prevention and treatment."

Conceptual depiction of a DNA molecule with the letters ATCG representing the chemical components that make up DNA sequence and binary numbers (0/1) representing the computational requirements to analyze DNA sequence. Credit: Jonathan Bailey, National Human Genome Research Institute

Ritchie was recruited to Penn State in 2011 as part of a genomics and computational biology cluster hire that brought more than 30 faculty members to multiple colleges at Penn State. Ritchie is the lead investigator in coordinating the genomic data in the electronic medical records and genomics network of an initiative in this area, "eMERGE," funded by the National Human Genome Research Institute. She also is a leader in the Statistical Analysis Resource (P-STAR) of the Pharmacogenomics Research Network. Her awards and honors include being named a Genome Technology Rising Young Investigator in 2006, an Alfred P. Sloan Research Fellow for 2010, a KAVLI Frontiers of Science Fellow as nominated by the National Academy of Science for the past four years, and one of the Thomas-Reuters most highly cited researchers in 2014.

Contacts:

Marylyn Ritchie: mdr23@psu.edu, (814) 867-5973

Barbara Kennedy (PIO): science@psu.edu, (814) 863-4682