The ALS center in Lisbon coordinates the JPND project “ONWebDUALS – ONtology-based Web Database for Understanding Amyotrophic Lateral Sclerosis”. The ONWebDUALS a 3-years project supported by JPND – EU Joint Programme Neurodegenerative Disease.
The OnWebDUALS project started in March 2015 including Portugal, Poland, Germany and Sweden. Additional ALS research centers will be invited to join the team. The project anticipates in its goals the interaction and data sharing with other European Projects, such as EuroMOTOR, to increase the chances of a relevant output.
Present knowledge on the risks and prognostic factors related to ALS is incomplete and not always consensual, very likely because they have never been integrated with strict phenotype-genotype features. ONWebDUALS aims to combine standardized phenotypes with genotypes to identify relevant risk and prognostic factors in ALS.
To investigate this important interplay we aim to build a standardized European database and an ALS domain-ontology comprehensively representing the body of medical knowledge related to this disorder, which should be implemented in the form of a computer system in order to allow the use of bio-informatics and data mining methods to recognize relevant associations. This ontology is meant to serve as a formal basis for the construction of a standardized e-health record to include de-identified ALS patients.
We target 3000 patients, mostly derived from the consortium participants, which includes ALS specialists, geneticists and experts in bio-informatics, will be included in this European ALS web-database. Throughout the development of the project we also aim to interact and include the feedback from other ALS leading specialists in Europe as well as from the ALS community (e.g. patients associations, pharmaceutical companies and other stakeholders interested in this disorder).
The causal relationships between individual risk factors and the ALS genotype-phenotype, retrieved from the analysis of the complete database, will allow: to suggest preventive strategies; to customize specific research studies; to tailor therapeutic trials to specific populations in order to develop individualized treatment strategies. The expected major implication of ONWebDUALS project is a decrease in the social impact of this disorder in Europe.
If you want to participate, please contact the project coordinator: Mamede de Carvalho, Instituto de Medicina Molecular, Lisbon, Portugal mamedealves@medicina.ulisboa.pt
Project partners:
- Magdalena Kuzma-Kozakiewicz, University of Warsaw, Poland
- Maria Piotrkiewicz, Nałęcz, Polish Academy of Sciences, Poland
- Julian Grosskreutz, University Hospital Jena, Germany
- Peter M. Andersen, Umeå University, Sweden
- Susanne Petri, Hannover Medical School Germany
Project management: Marta Gromicho, Instituto de Medicina Molecular, Lisbon, Portugal martalgms@gmail.com