The 2nd HVP Neurogenetics Consortium
Satellite Meeting 10th May
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.
Scientific Committee
| Maria-Jesus Sobrido, Spain |
| Andrea Haworth, UK |
| Birgitt Schuele, USA |
Speakers
Click here for program
| Johan T. den Dunnen (The Netherlands) | Developments in gene variant database software - the LOVD platform |
| Francisc Palau (Spain) | A proposal for a neurogenetics database in Spain: the Charcot-Marie-Tooth Disease Initiative |
| Paola Carrera (Italy) | Acting locally, thinking globally: development of an integrated international curated database for collection and management of clinical and genetic data in hereditary spastic paraplegia (HSP) |
| Mary Sweeney (UK) | Mitochondrial mutations: what do we need to know? |
| Joanna Elson (UK) | Mitochondrial mutations: What changes cause disease, which can be inherited? |
| Corey D. Braastad (USA) | Challenges with Real-Time Variant Investigation and Reporting in a private Clinical Molecular Genetics laboratory |
| Dipa Raja Rayan (UK) | Skeletal Muscle Channelopathies - Utilising databases in clinical practice |
| Henry Houlden (UK) | Clinical and genetic heterogeneity in hereditary sensory neuropathy |
| Peter Robinson (Germany) | Human Phenotype Ontology: Introduction and Applications in Neurogenetics |
In-kind support
We acknowledge the in-kind support of:PD ONLINE, The Michael J. Fox Foundation for Parkinson's Research
Registration
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 the morning coffee break 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. Please fill out the Special Satellite Registration Form linked here ONLY IF YOU ARE NOT ATTENDING THE HVP IN WHICH CASE YOU CAN BOOK THIS ONLINE