The need for a global system to access the human genome variation in a comprehensive and curated form is especially true for neurological disorders. Numerous diseases affecting the nervous system have been associated with alterations in one or several genes, and thus genetic heterogeneity is common to Neurology. A further source of complexity in the Neurogenetics scenario comes from the fact that different disorders share phenotypic features and pathogenic biological mechanisms.

A number of locus specific databases (LSDBs) related to neurological diseases have already been developed; most of them thanks to individual efforts. The routine use of these databases by both the research and clinic community in their daily work reflects the fundamental need for these repositories. However, as the number of genetic variants associated with neurologic traits rapidly increases, the necessity for an efficient organization of the genotype to phenotype information becomes even more crucial. A scenario of hundreds of independent, not-coordinated locus specific databases, where information on genetic variations in the same gene may appear in different LSDBs is likely to lead to redundant or even contradictory information. Furthermore, the knowledge on genetic variation associated to a certain neurological trait, e.g. dystonia, is likely to be dispersed in multiple databases, on multiple genes and disorders that can potentially lead to that particular manifestation.  However a clinical neurologist or a researcher looking for genetic causes of dystonia will want to be able to consider all those genes and mutations. Key issues that will need to be addressed in order to achieve an operational level of coordination will be mutation nomenclature, reference sequences, homogeneous coding of neurological phenotypes and ontology approaches, among others. Another fundamental issue will be how to achieve continuous financial support for the databases in order to keep them updated and accurate.

Thus, a global and coordinated effort is needed to preserve and improve this key resource for clinicians and researchers focused on Neurogenetic disorders.

The first meeting to initiate this pilot project was a meeting proposed to focus on neurogenetic LSDBs, is to make an overview of the current situation in the field, discuss the most important challenges and possible actions to be taken towards the construction of an extensive, thoroughly curated and coordinated neurological LSDB landscape as well as making this resource available to the Neurogenetics community worldwide.  The meeting was held as a satellite to the American Society of Human Genetics' Annual Meeting in Honolulu, US on 19 October 2009 and the program can be found here.

The 2nd HVP Neurogenetics Consortium 10 May 2010, UNESCO Paris

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.

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.

Registrations for this meeting are invited through the application process on the HVP website.  Note, places are limited in the UNESCO building, and a fee of Euro 30 will be charged to cover hospitality costs which are morning and afternoon coffee breaks and lunch in the UNESCO cafeteria.  If you wish to attend this meeting, please register at the time of registering for the HVP meeting as numbers are limited due to space constraints. If you are not attending the HVP meeting you can still attend but you will need to REGISTER WITH THE SECRETARIAT AS THE ONLINE SYSTEM DOES NOT ALLOW IT WITHOUT HVP REGISTRATION.