KMD: Korean Mutation Database for genes related to diseases

Area of Science:

• Genomics
• Medical Genetics
• Bioinformatics

Background:

• Increasing number of known disease-causing mutations.
• Lack of publicly accessible, organized mutation databases.
• Challenges for clinicians and diagnostic labs in identifying reported mutations.

Purpose of the Study:

• To establish a centralized, publicly accessible database for human gene mutations in Korea.
• To facilitate genetic diagnoses and research by providing curated mutation data.
• To support clinicians and researchers interested in genetic diseases.

Main Methods:

• Systematic collection and curation of mutation data from Korean diagnostic laboratories and published journals.
• Consolidation of mutation information into a country-specific database.
• Development of a web-based platform for public access and data registration.

Main Results:

• Establishment of the Korean Mutation Database (KMD) in September 2009.
• KMD currently contains over 1,600 mutations across 245 genes.
• The database is freely accessible to the public for searching and data submission.

Conclusions:

• KMD provides organized, essential information for genetic disease research and diagnostics in Korea.
• The database is valuable for researchers in countries with similar ethnic backgrounds.
• KMD serves as a foundation for advancing genetic disease research, diagnostic development, and therapeutic optimization.