[대학원 생명과학과 세미나 안내]
연사 : Smith, L. Cynthia 박사(The Jackson Laboratory)
연제 : Mouse models of human disease: Identification of animal models for translational research
일시 : 2019년 9월 20일 (금) 오후 5시
장소 : 하나과학관 A동 B131호
초청교수 : 백자현 교수
Abstract
The now routine sequencing of exomes and genomes of patients provides the opportunity to identify potential genetic causes of hereditary human diseases. However, the large number of genetic variants uncovered from a patient presents challenges in identifying the causal gene or genomic regions. Model organisms such as mouse, rat, zebrafish, Drosophila, C. elegans and yeast can provide unique insights into the dissection of genetic mechanisms of human disease. Comparative phenotyping and directed gene mutation can aid in identification of candidate gene mutations and biochemical analysis of gene function. Development of animal models that recapitulate the phenotypes of specific human genetic mutations can be prioritized, especially for the study of rare disorders in which data for multiplex kindreds may be lacking, or for using model organism embryos to study human congenital diseases.
Mouse Genome Informatics (MGI; www.informatics.jax.org) together with the Alliance of Genome Resources (www.alliancegenome.org) provide several mechanisms to explore and compare human, mouse and other model organism phenotypes and their associations with known human diseases and supporting references. Searches can be initiated based on human or model organism data using one or more parameters, including genes, genomic locations, or phenotypes or disease terms. Integration of these data using controlled vocabularies and ontologies across multiple species ensures accurate and robust retrieval of curated information. Examples of comparisons of candidate genes from variants from patients with neuropsychiatric disorders will be shown together with mouse and other model organism data for these genes. By gathering additional functional and phenotype information from animal models, high priority genes that contribute to disease phenotypes can be identified and studied further.