Topics » New Classification of Names of Genetic Diseases
Lynn M. Schriml, PhD, Associate Professor of Epidemiology and Public Health UM School of Medicine and the Institute for Genome Sciences, has been a leader in genome ontology, the process of standardizing terminology for diseases and key scientific terms. Schriml is the principal investigator on a recently funded, $3,395,191 five-year U41 Genomic Resource grant that was awarded by the National Human Genome Research Institute (NHGRI), entitled “the Human Disease Ontology” project.
She will work with UM SOM co-Investigators Michelle Giglio, PhD, Associate Professor of Medicine, Institute for Genome Sciences, Linda Jeng, MD, PhD, Associate Professor of Medicine, Carol L. Greene, MD, Professor of Pediatrics, Cynthia F. Bearer, MD, PhD, FAAP, Cobey Professor and Director of Neonatology and Professor of Pediatrics, Melanie L. Leu, MD, Assistant Professor of Pediatrics, and Richard Lichenstein, MD, Professor of Pediatrics.
These researchers are mining medical journals, databases and other authoritative sources to establish standard terms for diseases as a way to help future researchers better understand a wide range of diseases like cancer. The work involves a time-intensive manual curation process, examining the breadth of information, naming systems and levels of evidence in order to integrate information and bridge data across resources.
“As more data is gathered, we work with research groups to figure out if it is a new disease or a novel sub-type,” said Dr. Schriml.
The project team will augment the content of the Human Disease Ontology, advance the classification of complex genetic diseases, reclassify human cancers by cell of origin and tissue type and produce alternative disease classification views based on environmental exposures. “We work to identify and integrate the most current information about a disease,” said Dr. Schriml.
Dr. Schriml’s Human Disease Ontology project will provide alternate cellular, molecular and environmental mechanistic profiles and terms of many human diseases. “As more data is gathered, we work with research groups to figure out if it is a new disease or a novel sub-type,” said Dr. Schriml. When a community updates their classification of an area of disease, e.g. immune disease, Dr. Schriml and her team integrate the new information, updating previous classification systems and coordinating these changes across pertinent biomedical databases.
Dr. Schriml’s team is excited to develop, as part of this work, a novel differential diagnosis disease ontology. Exploring ontological representations for heterogeneous disorders will provide insight on the etiological complexity of diseases.