José Luis Oliveira
Universidade de Aveiro, DETI / IEETA
3810-193 Aveiro, Portugal
(+351) 234 370 500
Diseasecard is a public web portal that integrates real-time information from distributed and heterogeneous medical and genomic databases, presenting it in a familiar visual paradigm.
Bioinformatics is playing a key role on molecular biology advances, not only by enabling new methods of research, but also managing the huge amounts of relevant information and make it available world-wide.
State of the art methods on bioinformatics include the use of public databases to publish the scientific breakthroughs. These databases provide valuable knowledge for the medical practice. But, given their specificity and heterogeneity, we cannot expect the medical practitioners to include their use in routine investigations. To obtain a real benefic from them, the clinician needs integrated views over the vast amount of knowledge sources, enabling a seamless querying and navigation.
Main goals behind the conception of DiseaseCard:
- Provide the user with an integrated view of the information available in the internet for a specific disease, from the phenotype to the genotype.
- Use rare diseases as the main target due to the high association between phenotype and genotype.
- Do not replicate information that already exists in public or private databases. The system is based in an information model that allows accessing and sharing these data;
- Be supported in a navigation protocol that allows guiding users in the process of retrieving information from the Internet.
Diseasecard can provide the answers to several questions that are relevant in the genetic diseases diagnostic, treatment and accomplishment, such as:
- What are the main features of the disease?
- Are there any drugs for the disease?
- Are there any gene therapies for the disease?
- What laboratories perform genetic tests for the disease?
- What genes cause the disease?
- On which chromosomes are these genes located?
- What mutations have been found in these genes?
- What names are used to refer to these genes?
- What are the proteins coded by these genes?
- What are the functions of the gene product?
- What is the 3D structure for these proteins?
- What are the enzymes associated to these proteins?
- G. Dias, J. L. Oliveira, F. Vicente, and F. Martín-Sanchez, “Integrating Medical and Genomic Data: a Sucessful Example for Rare Diseases”, in The XX International Congress of the European Federation for Medical Informatics (MIE’2006), Maastricht, Netherlands, 2006.
- G. Dias, J. L. Oliveira, F. Vicente, and F. Martin-Sanchez, “Integration of Genetic and Medical Information Through a Web Crawler System”, in Biological and Medical Data Analysis (ISBMDA’ 2005), Lecture Notes in Computer Science – Volume 3745, Aveiro, Portugal, 2005.