Cardiff University's Human Gene Mutation Database enters into partnership with BIOBASE GmbH

Cardiff University’s Human Gene Mutation Database enters into partnership with BIOBASE GmbH Cardiff University announces a new cooperative agreement with BIOBASE GmbH of Wolfenbüttel (Germany) and Beverly (MA, USA) that allows for the exclusive worldwide marketing of the Human Gene Mutation Database (HGMD) to both academic and commercial users. The initial 5-year contract will guarantee the continuity of this internationally acclaimed database, co-founded by Profs. David N. Cooper and Michael Krawczak in 1996.

HGMD constitutes a comprehensive core collection of data on germ-line mutations underlying or associated with human inherited disease. Based in the Institute of Medical Genetics and managed by Peter Stenson and his staff of four, this unique database currently contains information on the nature, location and sequence context of some 60,000 different mutational lesions in more than 2230 human genes. It also provides data on gene names and symbols, chromosomal locations and original literature references. Integration with phenotypic, structural and mapping information has also been made possible by the provision of links to a variety of web-based resources. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility to researchers, physicians, clinicians and genetic counsellors. It was therefore made publicly available in April 1996 at http://www.hgmd.org. The database can be used to search for newly identified gene lesions to determine whether or not they are novel. It can also be searched on a gene-wise basis to obtain an overview of the known mutational spectrum for a given gene. Additionally, it can be searched for other examples of a specific type of mutation in a specific location in order to garner evidence for the pathological authenticity of a given lesion. Although more than 90% of HGMD data are in the public domain, the newly signed agreement allows BIOBASE a 12 month period of exclusive access to new information added to HGMD.

BIOBASE is currently the leading commercial provider of biological knowledge. Their product portfolio spans gene regulation (TRANSFAC) to fully annotated genomes (PROTEOME™) via signal transmission (TRANSPATH^®). The link-up with HGMD^® will extend this portfolio to encompass mutations of human genes and their relationship with clinical phenotypes. "With HGMD, we have made our portfolio even more interesting to medical researchers by combining our data on biological processes with information on genetic disease" says Edgar Wingender, President and CSO of BIOBASE. "HGMD will be tightly integrated within our current portfolio and will therefore provide tremendous added value to the scientific community. We are very proud of our new partnership with such an internationally renowned academic team".

David N. Cooper, Professor of Human Molecular Genetics at Cardiff University, stated: "We are delighted to team up with BIOBASE, a young, ambitious and very dynamic bioinformatics company that is seeking to provide the human genetics community with essential data in an up-to date, integrated and user-friendly format".