FLASH
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About 1 in 2,000 people in Albania are affected by a rare genetic disease, and diagnosing them remains a challenge for the healthcare system. As a result, some patients fail to receive appropriate treatment due to the lack of accurate identification of the pathology.
According to data, there are an estimated 150,000 individuals in the country affected by rare genetic diseases, while a significant number of them are unaware of their health condition.
Among the most common pathologies is cystic fibrosis, which mainly affects the lungs and digestive system. Blood diseases such as hemophilia, thalassemia, and muscular atrophy are also encountered.
In Albania, molecular diagnostics are currently performed mainly for the most common pathologies, while for many other diseases, advanced testing remains limited.
During a conference with the participation of Albanian and foreign geneticists, new approaches in the development of molecular tests for the early diagnosis of rare diseases were discussed. Specialists emphasized the importance of expanding laboratory capacities and international cooperation in this field.
Foreign scientific studies, referenced during the discussions, have also shown that genetic factors may have influenced how some patients experienced more severe Covid-19 infection, highlighting the importance of molecular analyses in predicting health risk./TCH
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