Role in RD-Connect:
Peter is a member of the Scientific Advisory Board of RD-Connect.
Peter leads a group at the Jackson Laboratory for Genomic Medicine developing algorithms and software for the analysis of exome and genome sequences. He is a physician by training and completed his medical education at the University of Pennsylvania followed by an internship at Yale. He obtained a BA in Mathematics and a Master of Science in Computer Science from Columbia University in New York City, and a main focus in his research has been to use mathematical and bioinformatic models to understand biology and hereditary disease.
During his training as a paediatrician at the Charité, Peter developed an interest in molecular genetics research and bioinformatics. His group's output in recent years has included the development of a novel treatment strategy for Marfan syndrome in mice based on antagonism of a class of bioactive motivs that are common in fragments of elastin and fibrillin-1, the identification of novel disease genes for a form of ataxia (CA8) and hyperphosphatasia with mental retardation syndrome (PIGV).
Peter's computational group has developed the Human Phenotype Ontology (HPO), as well as a number of algorithms for disease gene prediction and next-generation sequencing data. A major current focus lies in the development of algorithms for using phenotype and genotype information for diagnostics and computational biology.