Rare Diseases

Future of Rare Diseases Research

Research on rare diseases has reached a turning point. Diagnoses for the diseases were possible, new therapies were successfully developed and approved, and gains in life expectancy and quality of life were made. Patients with uncommon diseases may still expect to wait a lengthy period in the medical system before receiving a precise diagnosis. As many patients still lack a good diagnosis and are without effective treatments, research into rare infectious diseases is essential. Expertise in this field is particularly scarce. Furthermore, study in this field is extremely important from a scientific perspective because uncommon diseases serve as models for more widespread ailments and are major propellants of diagnostic innovation.

• Diagnostics
• Therapeutic discovery challenges