National/Ethnic genetic databases

Genetic databases are gradually assuming an increasing importance in all areas of health care.

The National and Ethnic Mutation Databases are continuously updated mutation depositories, recording extensive information over the described genetic heterogeneity of an ethnic group or population.

In particular, the Golden Helix Institute of Biomedical Research has participated actively to develop the Golden Helix Server, where a number of National/Ethnic Genetic databases are hosted, to develop an off-the-shelf bioinformatics suite to facilitate development and curation of National/Ethnic Genetic and Mutation frequency databases, to launch, in close cooperation with SAGE (UK) the first “database-journal”, i.e., a scientific journal that is interconnected with a database.

Together with the central and locus-specific databases, those resources not only enhance awareness over the various genetic disorders but also facilitate the provision of genetic services and provide useful insights into the genetic history of human populations. In 2003, the Golden Helix Institute has developed specialized software, namely ETHNOS, that allows easy development and curation of National and Ethnic Mutation Databases. This software has enabled the development of a number of these resources in various populations, such as Greek, Cypriot, Iranian, Lebanese, Israeli, Egyptian, etc, that are placed in a separate server, namely the Golden Helix Server (click here to access the databases). Descriptions of several of these databases have been published in many peer-reviewed scientific journals and presented in European Human Genetics conferences.

Also, based on the same concept, FINDbase, a worldwide database to record frequencies of causative mutations and pharmacogenetic markers, has been developed.

The above projects have been mostly in the framework of collaborative research funded by the European Commission, where members of the Golden Helix Institute participate as partners or subcontractors.