International Marketing Portugal Logs On To Europe’s Largest Rare Disease Database

For a decade, Portugal has been quietly compiling the largest database relating to rare diseases in Europe. The project caters for around 600,000 patients, and comprises a wealth of information on everything relating to rare diseases, from orphan medicines to new projects and support groups. The Orphanet website (http://www.orpha.net) managed by Lusa News Agency, was launched in 2002. The website is currently run from Oporto’s Institute for Molecular and Cellular Biology. We spoke to a source from International Marketing Portugal, a Lisbon-based sales and marketing company, who said, “The website is an extremely useful resource for sufferers of rare diseases, and helps to improve treatments and diagnosis. Rare diseases are often misdiagnosed, and this can severely affect the lives of the sufferers. It’s great that a resource like this exists.”

Jorge Pinto Basto, coordinator of the project said, “The team gathers data on a national level and one of this website’s particularities is it’s target-public, because it is created to be accessible and have useful information both for professionals and for the general public, namely patients and their families.” According to the supervisors, the objective is that anyone who accesses the site can find an answer to their questions or as a last resort can contact the team directly. Pinto Basto added, “Generally these questions relate to information about a particular disease which affects a person or a member of their family. They also look for information about treatment or where they could find it.” Our International Marketing Portugal source added that the site “provides answers to questions patients might not be able to find elsewhere, and about which they might even have been misinformed, making it a useful tool.”

According to information from the Portuguese Federation for Rare Diseases (FEDRA), rare diseases are classified as such when they affect fewer than five in every 10,000 people. “It is estimated that there are between five thousand and eight thousand different rare diseases, altogether affecting up to six percent of the population, which means there are up to 600,000 people with these pathologies in Portugal”, information on the website explains. Information from FEDRA suggest that 25 percent of rare disease patients have to wait between five and thirty years for a diagnosis that confirms the disease, from the moment the first symptoms occur, and that 40 percent of patients are initially wrongly diagnosed.

“This resource could help to shorten the diagnosis times for people with rare diseases,” said our source at International Marketing Portugal, “This could ease a lot of suffering for both them and their families, and help them to get appropriate treatment too.”

“There is still a long way to go” in Portugal, with regards to rare diseases, said Orphanet’s management. They also added that the current economic circumstances “do not help.” Nonetheless, Jorge Pinto Basto sees Orphanet as a successful project, given that it has contributed towards a greater knowledge, both for medical professionals and for society as a whole, in relation to the problem of rare diseases, helping patients to quickly find a way to a quicker diagnosis.

Source: http://www.theportugalnews.com/cgi-bin/article.pl?id=1154-5

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