HVP/InSiGHT Pilot Project with four colon cancer genes

The long established and international group (http://www.insight-group.org) has, in collecting data for its own use in clinics and research, volunteered to be a pilot for collecting data for all genes for all countries. Thus the world’s expertise is being drawn on to establish this system which is well underway. This system is intended to form the template for other disease/specific gene collections, other groups presently interested are those interested in a database mutation causing “Neurological” disease and the Nutrigenomics group NUGO

Contact: F. Macrae ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Melbourne, Australia.

Pilot collection from individual countries

For collection of mutation to be complete, collection has to be on a country by country basis for all genes and it would be ideal if this was part of best practice/QA/laboratory licensing (see below). UK has initiated this on a custom made database (DMuDB; http://ngrl.man.ac.uk/dmudb/index.html). The InSiGHT group (above) will pilot country specific collection for four genes worldwide. Australia is now in the process of setting up a pilot system to create a country specific data collection system and database. To assist this effort Laboratories in Queensland have decided to start collecting their data with the use of LOVD software (Drs. Hyland, McMillan and Jones). The pilot system created in Australia will form a template for other countries. The HVP intends to establish an International Consortium of Countries to further assist in the establishment of country specific databases.

Contact: R. Cotton ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Melbourne, Australia; V. Hyland ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Brisbane, Australia; Heather Howard ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Melbourne, Australia

HVP Neurogenetics Consortium

The implementation and improvement of mutation databases for genetic disorders of the nervous system is perceived as a need by the clinical and research community alike. Because neurogenetic disorders show overlapping problems and issues related to LSDB construction and curation, a Neurogenetics Consortium was started within the Human Variome Project to address these questions. The main goal of the Neurogenetics Consortium is to develop, in a coordinated way, possible solutions and tools to overcome the current difficulties in Neurogenetic LSDBs, such as genetic heterogeneity, variable expressivity, multidisciplinary approach, phenotype nomenclature, and evidence of pathogenicity, ethical aspects, and others.

A start up meeting was held as a satellite to the American Society of Human Genetics in Honolulu, October 2009 (link to the meeting summary here).  The organizing committee and the convenor of the Human Variome Project wish to encourage all the Neurogenetics Community to join this initiative.  Basic scientists, clinical geneticists, neurologists, pediatricians, psychiatrists and other clinical specialists, as well as bioinformaticians and ethicists are needed in order to build multidisciplinary working teams for the different disorders and committees.  In order to give continuity to the plans started and initiate further actions, the meeting will cover key topics in the field of mutation and genetic variation of the disorders of the nervous system, databases and their curation.  Research groups, healthcare professionals or private companies with an interest in this field are invited to submit an abstract or contact the organizing committee with if they wish to contribute any suggestions or proposed topic.  The 2nd HVP Neurogenetics Consortium will be a satellite of the third HVP meeting at UNESCO Paris on May 10th, 2010.  Click here for more information on this meeting.

For more information in this project please click here.

Contact: M-J. Sobrido Santiago de Compostela, Spain; A. Kline ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Melbourne, Australia