Thalassemia is an inherited blood disorder, which main consequence is a reduced production of hemoglobin leading to mild to severe anemia. Since the diagnosis of

We often think of Next-generation sequencing (NGS) as a powerful technology that can analyse millions of DNA variants simultaneously, making it widely used for genetic

Hereditary cardiomyopathies (CMPs) are diseases related to impaired structure and function of the heart muscles and cavities, which greatly contribute to cardiovascular mortality. These conditions

Rare diseases collectively affect 3.5–5.9% of the global population, thus emphasising their public health significance. Diagnosing rare diseases in adults remains more challenging than in