Eric W. Klee, Ph.D., conducts research focused on the translational application of omic data in the clinical setting, including novel method and application development. This includes a focus on rare and undiagnosed Mendelian disease, developing state-of-the-art analytics applied to novel omic technologies, and identifying novel diagnoses and treatments for patients. The use of integrative multiomic profiling to characterize patients' molecular state is a primary area of research, involving comprehensive and unbiased transcriptomic profiling, as well as methylation profiling.
Dr. Klee's research also is focused on developing novel tools and methods to support variant interpretation, and continuous and dynamic interpretation of genomic data. In addition, he leads an effort to build standard and centralized omic infrastructure at Mayo Clinic in support of the institution's drive to digitize practice.
- Rare and undiagnosed disease. Dr. Klee is actively engaged in research to push the boundary on how suspected rare or undiagnosed genetic diseases are identified and treated. As the director of the Translational Omics Program at Mayo, Dr. Klee's research is focused on applying novel methods that transform patient care by solving patients' diagnostic odysseys, changing the courses of their clinical care or both. The program includes multiomic patient profiling, integrative analyses, gene-phenotype characterization and functional genomic studies.
- Omics data platform. A cloud-based omics solution serves as the central institutional repository for omics data and enables research and clinical workflows by providing infrastructure, AI tools and knowledge services, for internal and external users. Dr. Klee leads this strategic effort to transform how omic data is organized and accessed at Mayo Clinic.
- RNA-Assisted Diagnosis and Treatment (RADIANT). The application of transcriptomic sequencing from blood to complement DNA sequencing is used to identify outlier effects, aiding in diagnosis and treatment. This work includes looking at multiple characteristics of RNA sequencing for hereditary disease, including splicing fusion detection, allele-specific expression and aberrant outlier expression. This effort also is exploring the viability of antisense oligonucleotide therapeutics to counter the pathogenic effects in rare diseases.
- Population-level genetic interpretation. By looking at novel methods and applications to enable genetic data interpretation at scale, Dr. Klee's work supports population-level sequencing efforts. He evaluates systems required to facilitate genome sequencing of all patients and integration of the genomic findings into clinical practice in a seamless and intuitive manner.
Significance to patient care
Dr. Klee strives to employ translational applications of genomic medicine in clinical practice and research. His work within the Center for Individualized Medicine, Comprehensive Cancer Center, and Advanced Diagnostics Laboratory at Mayo Clinic, aims to transform patient testing and utilize omics to directly impact patient care.
Dr. Klee uses machine learning methods to develop improved tools for genetic variant interpretation in the context of hematological cancer and population-level screening. This research directly impacts patient care through the implementation of Semi-Automated Variant Interpretation (SAVI), an application facilitating interpretation data from tens of thousands of patients for predictive and preventive screening. Also developed out of Dr. Klee's research program is RENEW, which empowers continuous reinterpretation of patient genomic data in a translational research setting, to overcome some of the barriers associated with static genetic test results.
Finally, Dr. Klee's research program is leveraging the use of transcriptomic profiling for rare disease diagnoses, to begin pilots into tailored N=1 therapeutics with antisense oligonucleotides.
- Enterprise co-director, Data Science and Informatics, Mayo Clinic Comprehensive Cancer Center, 2022-present.
- Midwest associate director of Research and Innovation, Mayo Clinic Center for Individualized Medicine, 2022-present.
- Director of Bioinformatics, Mayo Clinic Center for Individualized Medicine, 2020-present.
- Board of directors, Undiagnosed Disease Network International, 2018-present.