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Healthcare: About 1.2 million Romanians suffer from a rare disease, screening needs to be strengthened

April 2, 2025

 Approximately 1.2 million Romanians suffer from a rare disease, rector of the "Carol Davila" University of Medicine and Pharmacy Viorel Jinga said on Friday, stressing the need to "strengthen" screening programmes, especially pediatric ones, to detect these diseases early."In our country, the number of people suffering from a rare disease is about 1.2 million, in a general European context where the total reaches 36 million people affected by a rare disease. It is necessary to focus more on screening programmes, especially pediatric ones, to detect other diseases early. (...) In 80% of cases, the genetic factor triggers a rare disease, but we need to intervene faster with medical solutions, even though today many cases still lack treatment," explained Jinga at a conference held on Rare Disease Day.He pointed out that many rare diseases are severe, chronic, disabling and represent "a heavy burden" for patients, their families, and also economically for the healthcare system."I believe that with rare diseases, we are dealing with a complex equation that has many unknowns, as demonstrated by the large number of cases where the diagnosis is not precise. Most of the time, it takes a long period, sometimes even years, to reach a definite conclusion and precisely define the type of disease for a single patient. Moreover, statistics show that there are up to 8,000 diseases in this category, affecting over 300 million people worldwide, and nine out of ten patients are either undiagnosed or misdiagnosed," Jinga explained.In his opinion, innovative solutions for rare diseases will be discovered in the near future through the development of precision medicine "in tandem" with the advancement of gene therapies.  

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