Choroby rzadkie - problemy nie tylko systemowe

The conference will address the systemic solutions needed for rare diseases, including the role of screening, using mucoviscidosis as an example. It will cover genetic diagnostics, the challenges of rare diseases in adults, and shortening the patient's diagnostic path, as illustrated by Stilla's disease. The event will also explore the patient's perspective within the healthcare system, standards of care for myasthenia gravis, and a systemic plan for rare diseases. A panel will discuss experiences and challenges in treating adult SMA patients within the ERN network. Further sessions will focus on Poland's presidency and the place of rare diseases in the healthcare system, as well as how patients with rare diseases navigate the system. The conference will also feature a debate on the pharmacology of rare disease treatment, including amendments to the refund law and new criteria for assessing dedicated drugs, specifically Multi-Criteria Decision Analysis (MCDA).