Related Experiment Video
Updated: Jun 21, 2026
10:47
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)
Published on: March 2, 2018
Cognitive ontologies for neuropsychiatric phenomics research.
Robert M Bilder1, Fred W Sabb, D Stott Parker
1Jane & Terry Semel Institute for Neuroscience & Human Behavior at UCLA, Los Angeles, CA 90095, USA. rbilder@mednet.ucla.edu
Cognitive Neuropsychiatry
|July 28, 2009
Summary
Developing cognitive ontologies is crucial for understanding neuropsychiatric disorders. This involves informatics strategies and focusing on cognitive test indicators for better genomic discovery.
Area of Science:
- Neuroscience
- Genetics
- Bioinformatics
Background:
- Genome-wide association studies (GWAS) are complex for neuropsychiatric syndromes.
- Phenomics, the study of phenotypes, is a bottleneck in genomic discovery.
- Informatics strategies are needed to link genomic variation to disease.
Purpose of the Study:
- To address challenges in cognitive ontology development.
- To establish a foundation for representing cognitive phenotypes.
- To facilitate genomic discovery in neuropsychiatric disorders.
Main Methods:
- Developing schemata for phenotypic expression, inspired by Gene Ontology.
- Focusing on cognitive test indicators for consistency and operational definitions.
- Introducing "test speciation" to manage unique cognitive paradigms.
Main Results:
- Initiated projects to develop cognitive ontologies at the Consortium for Neuropsychiatric Phenomics.
- Developed web applications (PubGraph, PubAtlas, PubBrain, Phenowiki, Cognitive Atlas) for cognitive concept visualization and ontology development.
- Demonstrated the utility of cognitive test indicators as a foundation for ontologies.
Conclusions:
- Cognitive ontologies are essential for effective collaboration and linking cognitive phenotypes to biological knowledge.
- Formalizing inference about cognitive concepts aids discovery of genetic bases for cognition and disorders.
- Web applications support collaborative ontology development and data analysis.
Related Concept Videos
01:17Cognitivism
Cognitive psychology emerged as a significant field in the mid-20th century. It focused on understanding humans' internal mental processes. This approach emphasizes how people perceive, remember, think, and solve problems—elements critical to human cognition.
Previously dominated by behaviorism, which prioritized observable behaviors and largely ignored mental processes, psychology transformed in the 1950s. Cognitive psychologists argue that understanding how we think and process information is...
Previously dominated by behaviorism, which prioritized observable behaviors and largely ignored mental processes, psychology transformed in the 1950s. Cognitive psychologists argue that understanding how we think and process information is...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
01:24Concepts and Prototypes
The human nervous system handles vast amounts of information by translating sensory stimuli into neural impulses, which the brain processes, creating thoughts expressed through language or stored as memories. The brain also synthesizes information from emotions and memories, which significantly influence thoughts and behaviors. This intricate process creates a comprehensive mental picture.
The brain organizes this information using concepts, which are mental categories grouping linguistic data,...
The brain organizes this information using concepts, which are mental categories grouping linguistic data,...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...