A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.
Oregon Health & Science University (OHSU) is a public research university focusing primarily on health sciences with a main campus, including two hospitals, in Portland, Oregon. The institution was founded in 1887 as the University of Oregon Medical Department and later became the University of Oregon Medical School. In 1974, the campus became an independent, self-governed institution called the University of Oregon Health Sciences Center, combining state dentistry, medicine, nursing, and public health programs into a single center. It was renamed Oregon Health Sciences University in 1981 and took its current name in 2001, as part of a merger with the Oregon Graduate Institute (OGI), in Hillsboro. The university has several partnership programs including a joint PharmD Pharmacy program with Oregon State University in Corvallis.
Biomedical text mining refers to the methods and study of how text mining may be applied to texts and literature of the biomedical domain. As a field of research, biomedical text mining incorporates ideas from natural language processing, bioinformatics, medical informatics and computational linguistics. The strategies in this field have been applied to the biomedical literature available through services such as PubMed.
The Open Biological and Biomedical Ontologies (OBO) Foundry is a group of people who build and maintain ontologies related to the life sciences. The OBO Foundry establishes a set of principles for ontology development for creating a suite of interoperable reference ontologies in the biomedical domain. Currently, there are more than a hundred ontologies that follow the OBO Foundry principles.
Yves A. Lussier is a physician-scientist conducting research in Precision medicine, Translational bioinformatics and Personal Genomics. As a co-founder of Purkinje, he pioneered the commercial use of controlled medical vocabulary organized as directed semantic networks in electronic medical records, as well as Pen computing for clinicians.
Xenbase is a Model Organism Database (MOD), providing informatics resources, as well as genomic and biological data on Xenopus frogs. Xenbase has been available since 1999, and covers both X. laevis and X. tropicalis Xenopus varieties. As of 2013 all of its services are running on virtual machines in a private cloud environment, making it one of the first MODs to do so. Other than hosting genomics data and tools, Xenbase supports the Xenopus research community though profiles for researchers and laboratories, and job and events postings.
CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) is a scientific research institute devoted primarily to biological research. It is a part of Council of Scientific and Industrial Research (CSIR), India.
The Uber-anatomy ontology (Uberon) is a comparative anatomy ontology representing a variety of structures found in animals, such as lungs, muscles, bones, feathers and fins. These structures are connected to other structures via relationships such as part-of and develops-from. One of the uses of this ontology is to integrate data from different biological databases, and other species-specific ontologies such as the Foundational Model of Anatomy.
Translational bioinformatics (TBI) is a field that emerged in the 2010s to study health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes.
Gary Stormo is an American geneticist and currently Joseph Erlanger Professor in the Department of Genetics and the Center for Genome Sciences and Systems Biology at Washington University School of Medicine in St Louis. He is considered one of the pioneers of bioinformatics and genomics. His research combines experimental and computational approaches in order to identify and predict regulatory sequences in DNA and RNA, and their contributions to the regulatory networks that control gene expression.
The Monarch Initiative is a large scale bioinformatics web resource focused on leveraging existing biomedical knowledge to connect genotypes with phenotypes in an effort to aid research that combats genetic diseases. Monarch does this by integrating multi-species genotype, phenotype, genetic variant and disease knowledge from various existing biomedical data resources into a centralized and structured database. While this integration process has been traditionally done manually by basic researchers and clinicians on a case-by-case basis, The Monarch Initiative provides an aggregated and structured collection of data and tools that make biomedical knowledge exploration more efficient and effective.
tranSMART is an open-source data warehouse designed to store large amounts of clinical data from clinical trials, as well as data from basic research, so that it can be interrogated together for translational research. It is also designed to be used by many people, across organizations. It was developed by Johnson & Johnson, in partnership with Recombinant Data Corporation. The platform was released in Jan 2012 and has been governed by the tranSMART Foundation since its initiation in 2013. In May 2017, the tranSMART Foundation merged with the i2b2 Foundation to create an organization with the key mission to advance the field of precision medicine.
Dean Forrest Sittig is an American biomedical informatician specializing in clinical informatics. He is a professor in Biomedical Informatics at the University of Texas Health Science Center at Houston and Executive Director of the Clinical Informatics Research Collaborative (CIRCLE). Sittig was elected as a fellow of the American College of Medical Informatics in 1992, the Healthcare Information and Management Systems Society in 2011, and was a founding member of the International Academy of Health Sciences Informatics in 2017. Since 2004, he has worked with Joan S. Ash, a professor at Oregon Health & Science University to interview several Pioneers in Medical Informatics, including G. Octo Barnett, MD, Morris F. Collen, MD, Donald E. Detmer, MD, Donald A. B. Lindberg, MD, Nina W. Matheson, ML, DSc, Clement J. McDonald, MD, and Homer R. Warner, MD, PhD.
Isabelle Guyon is a French-born researcher in machine learning known for her work on support-vector machines, artificial neural networks and bioinformatics. She is a Chair Professor at the University of Paris-Saclay. Guyon serves as the Director, Research Scientist at Google Research since October 2022.
Biocuration is the field of life sciences dedicated to organizing biomedical data, information and knowledge into structured formats, such as spreadsheets, tables and knowledge graphs. The biocuration of biomedical knowledge is made possible by the cooperative work of biocurators, software developers and bioinformaticians and is at the base of the work of biological databases.
Wendy Webber Chapman is an American research scientist in biomedical Natural language processing and Information Extraction. In 2019, after serving for six years as Chair of the University of Utah School of Medicine Division of Biomedical Informatics, Chapman left the institution to join the University of Melbourne.
Nicholas Pierino Tatonetti is an American bioscientist who is Vice Chair of Operations in the Department of Computational Biomedicine and Associate Director of Computational Oncology in the Cancer Center at Cedars-Sinai Medical Center in Los Angeles, California.
Daniel Richard Masys is an American biotechnologist and academic. He is an Affiliate Professor of Biomedical and Health Informatics at the University of Washington.
Judith J. Warren is an American nurse, educator, and researcher, known for being a pioneer in the field of nursing informatics. Her work has focused on integrating nursing science, information technology, and patient care. She holds the title of Professor Emerita at the University of Kansas School of Nursing.
