Rare genetic diseases collectively impact a significant portion of our population, not only in Taiwan but also worldwide. There is limited information available for most of the diseases that makes clinicians and their colleagues in the medical care team face difficulties in making confirmatory diagnosis, having adequate management resources in correspondence to individual need, and maintaining a sustainable treatment. This leads to problems in precision management and long-term outcome of the patients.
The talk will try to explore the issue of “current status of clinical management for rare diseases in Taiwan”, also discuss about the diagnosis, treatment, genetic counseling and supportive systems.