OMIM

Definition

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive, continually updated database that catalogs human genes and genetic disorders. It serves as a crucial resource for researchers and clinicians by providing detailed information on the genetic basis of diseases, the associated phenotypes, and the molecular mechanisms underlying genetic variation and mutations. This database plays an important role in understanding how specific mutations contribute to genetic disorders and variations within the human population.

5 Must Know Facts For Your Next Test

1. OMIM contains information on over 15,000 genes and 20,000 genetic phenotypes, making it one of the most extensive resources for genetic information.
2. The database is maintained by the Johns Hopkins University and is updated regularly to include new discoveries in genetics and medicine.
3. OMIM entries provide detailed descriptions of gene function, inheritance patterns, clinical features of associated disorders, and links to relevant research articles.
4. Researchers often use OMIM to identify gene-disease associations, which can aid in diagnosing genetic conditions and understanding their underlying mechanisms.
5. OMIM is freely accessible to the public, allowing both professionals and the general public to explore genetic information related to human health.

Review Questions

• How does OMIM contribute to the understanding of mutations and their impact on genetic disorders?
  • OMIM provides a centralized resource for researchers and clinicians to investigate the relationship between specific mutations and various genetic disorders. By cataloging detailed information on genes, their mutations, and the phenotypes associated with these mutations, OMIM helps elucidate how genetic variations lead to different health conditions. This resource enables better diagnosis, management, and research into therapies for genetic diseases.
• In what ways does OMIM facilitate research into genetic variation within the human population?
  • OMIM facilitates research by offering comprehensive data on numerous genes and their associated variants. By providing insights into how specific mutations correlate with phenotypes, it allows researchers to study patterns of genetic variation across different populations. This understanding can inform public health strategies and contribute to personalized medicine approaches tailored to individual genetic profiles.
• Evaluate the role of OMIM in advancing genomic medicine and its implications for future research in genetics.
  • OMIM plays a critical role in advancing genomic medicine by serving as a foundational tool for understanding the genetics of human diseases. Its extensive database allows researchers to track gene-disease relationships and discover novel mutations that could be targeted for therapy. As genomic medicine continues to evolve, OMIM will likely expand its resources further, influencing future research directions and enhancing our ability to treat complex genetic disorders effectively.

Related terms

Genetic Variation: Differences in DNA sequences among individuals that can result in varying traits or susceptibility to diseases.

Phenotype: The observable physical or biochemical characteristics of an organism, determined by both genetic makeup and environmental influences.

Mutation: A change in the DNA sequence of an organism, which can lead to alterations in gene function and potentially contribute to genetic disorders.