Rare diseases, a challenge in Albania / One in two thousand cases affected, difficult diagnosis leaves patients without treatment

1 in 2,000 people in Albania is affected by a rare genetic disease, and in our country diagnosing them is very difficult; as a result, some of these patients do not receive any treatment.

The most widespread is cystic fibrosis, which affects the lungs and digestive system, but blood disorders such as hemophilia, thalassemia, and muscular atrophy are no less common.

An estimated 150,000 individuals are affected by rare genetic diseases, many of whom are unaware that they have them. In Albania, molecular diagnoses are carried out only for the most common pathologies.

Foreign scientific studies explain why some individuals experienced more severe symptoms from the illness caused by Covid-19.

At a conference held with foreign and Albanian geneticists, new approaches to developing molecular tests for rare diseases were discussed.

“KORÇA BOOM”