Geneticist Marylyn D. Ritchie Appointed to Institute for Biomedical Informatics

Newswise — PHILADELPHIA— Marylyn D. Ritchie, PhD, a nationally regarded geneticist and expert in using big data and machine-learning methods to improve human health, has been appointed as director, Center for Translational Bioinformatics, Institute for Biomedical Informatics (IBI) in the Perelman School of Medicine at the University of Pennsylvania. Ritchie is also IBI’s associate director for Bioinformatics and associate director of the Center for Precision Medicine.

“The recruitment of Dr. Ritchie represents a huge leap forward in Penn’s plan to be a leader in genomic and precision medicine,” said Daniel Rader, MD, chair of the Genetics department. “Dr. Ritchie will help leverage the Penn Medicine Biobank — among the largest in the country — and other genomic and phenomic resources at Penn Medicine into new discoveries and approaches to personalizing medical care.”

Ritchie has an accomplished record of research aimed at developing and applying computational and statistical tools and approaches to improve understanding of the fundamental genetic architecture of such diseases as cancer, diabetes, hypertension, chronic obstructive pulmonary disorder, and cardiovascular disorders. Her approach uses massive amounts of de-identified patient data to break down categories of individuals with the same disease into sub-groups based on such variables as genetic profile, clinical presentation, symptoms, and disease trajectory. This enables more precise investigations into possible causes and treatments. Her expertise includes creating algorithms for detecting interactions between genes and between genes and the environment. The aim is to analyze the data associated with such interactions to understand how they might increase susceptibility to disease. These results can then be used to tailor treatments and predict future patient outcomes.

She also specializes in systems genomics approaches, which involve integrating several types of ‘omics data. (Omics refers to the wide-scale study of the structures and functions of components of an organism, such as genomics [study of the genome], lipidomics [study of cellular lipids], and proteomics [study of proteins]).

Before coming to Penn, Ritchie was the Paul Berg Professor of Biochemistry and Molecular Biology at Penn State University. She was also a professor in the Biomedical and Translational Informatics Institute and chief research informatics officer, both at Geisinger Health System.

“We are delighted to have Dr. Ritchie join us at Penn,” said Jason H. Moore, PhD, director of the Institute for Biomedical Informatics, which provides bioinformatics services such as data analysis and consultation to biomedical researchers at Penn. “She is a highly accomplished, prolific investigator who adds many skills to our efforts at solving critical biomedical problems by integrating, analyzing, and interpreting complex patterns in complex, large datasets.”

Among her previous projects was leading a project at Geisinger Health System to link the genome data of over 50,000 patients with their medical histories, aiming to identify genetic and environmental sources of various diseases.

Her honors include selection as a Kavli Fellow (four times), an Alfred P. Sloan Foundation fellowship, designation as a Reuters Most Highly Cited Researcher, and a Rising Young Investigator Award from the journal Genome Technology. She has served on numerous National Institutes of Health panels and held many editorial and review positions in professional publications in her field. She has published nearly 300 papers in such peer-reviewed journals as American Journal of Human Genetics, Nature Reviews Genetics, Nature Genetics, Human Molecular Genetics, Bioinformatics, and PLOS Genetics.