Speaker Profile

MS, Ph.D., Director & Chief Research Informatics Officer, Geisinger Health System

Dr. Ritchie is a statistical and computational geneticist with a focus on understanding genetic architecture of complex human disease. She has expertise in developing novel bioinformatics tools for complex analysis of big data in genetics, genomics, and clinical databases, in particular in the area of Pharmacogenomics. Dr. Ritchie has received several awards and honors including selection as a Genome Technology Rising Young Investigator in 2006, an Alfred P. Sloan Research Fellow in 2010, and a KAVLI Frontiers of Science fellow by the National Academy of Science from 2011-2014. Dr. Ritchie has extensive experience in all aspects of genetic epidemiology and translational bioinformatics as it relates to human genomics. She also has extensive expertise in dealing with big data and complex analysis including GWAS, next-generation sequencing, CNVs, data integration of meta-dimensional omics data, Phenome-wide Association Studies (PheWAS), and development of data visualization approaches.


Defining Disease in a Vast Sea of Phenotypes
Identifying gene-disease relationships is paramount for making discoveries and leading to improved understanding of disease etiology and development of novel treatment and prevention strategies. Through the use of extensive electronic health records data, we have begun to explore the complex relationships between disease phenotypes to improve our precision medicine research initiatives.

Session Abstract – PMWC 2017 Silicon Valley

Session Synopsis:
Many precision medicine initiatives at medical centers, foundations, and providers are aggregating vast amounts of data (e.g. genomics, clinical, and EMR data). Challenges and bottlenecks to overcome are associated with the data generation and aggregation process, and knowledge extraction from multi-modular healthcare data. Representatives from different organizations will discuss specific approaches and learnings.

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