Peter Robinson appointed to faculty of The Jackson Laboratory

Peter N. Robinson, M.D., MSc., a computational biologist who develops bioinformatics resources and algorithms for translational research and medical care, has joined the faculty of The Jackson Laboratory as a professor.

Robinson comes to the Laboratory from Charité – Universitätsmedizin Berlin, a large teaching hospital affiliated with Humboldt University and Freie University in Germany. He is a professor of medical genomics in Charité’s Institute of Medical Genetics and Human Genetics, where he has led a computational biology group since 2004.

Robinson will start work at The Jackson Laboratory for Genomic Medicine in Farmington, Conn., in August.

“Being part of a scientific institute dedicated to genetics, genomics and precision medicine is extremely attractive to me and will be a great match to my career goals,” Robinson says. “Although I am happiest behind a computer monitor writing code or analyzing data, I aim to practice bioinformatics, not just as software development, but as an integral part of the scientific endeavor and particularly as an ever-growing part of medical care.”

“I am thrilled to have Dr. Robinson join the faculty at The Jackson Laboratory,” says Charles Lee, Ph.D., FACMG, professor and scientific director of The Jackson Laboratory for Genomic Medicine. “He is truly a scientific leader in the clinical interpretation of DNA sequence variants in patients; a critical area in precision medicine.”

Robinson says his lab’s main research goal at JAX will be to continue developing the Human Phenotype Ontology (HPO), a standardized vocabulary of phenotypic (clinical) abnormalities seen in human disease.

The HPO provides both a data exchange standard and a sophisticated computational tool for analyzing clinical data and allowing phenotype-guided diagnostics using exome, genome and other high-throughput data. It is used internationally by the 100,000 Genomes Project in the United Kingdom and several National Institutes of Health-supported research initiatives in the United States.

Robinson’s research group is part of the Monarch Initiative, an international effort to improve cross-species phenotype analysis. The initiative has developed a software program called the Exomiser that can be used to search for novel disease genes based on phenotypic similarities found in model organisms such as the mouse.

Another research focus will be on developing bioinformatics pipelines and algorithms for functional genomics, the study of gene and protein functions and interactions using large, genome-wide data sets instead of a traditional gene-by-gene approach.

“The genomics environment at JAX is state of the art,” Robinson says, “and will provide an excellent chance to use new genomic technologies to answer translational questions.”

Robinson, a native of Philadelphia, earned a bachelor’s degree in mathematics from Columbia College in New York, an M.D. from the University of Pennsylvania School of Medicine, and a master’s degree in computer science from Columbia University. He completed an internship at Yale Primary Care Internal Medicine in New Haven, Conn., and was a pediatric physician at Charité – Universitätsmedizin Berlin before turning to bioinformatics in 2000.