What does "Rare Diseases" mean?
Table of Contents
Rare diseases are health conditions that affect a small number of people, usually fewer than 200,000 in the United States. Although each condition is uncommon, there are about 7,000 different rare diseases, collectively impacting approximately 300 million people worldwide.
Challenges in Diagnosis
Diagnosing rare diseases can be very difficult. Many doctors may not have experience with these conditions, leading to long waits for a correct diagnosis. Some patients may see multiple doctors before getting the right answer, and this can result in delays in receiving treatment.
Importance of Research
To help those with rare diseases, researchers are studying how to improve diagnosis and treatment. They are using advanced methods like large language models that can sort through vast amounts of medical information. This technology can help identify diseases based on symptoms described in patient records.
Real-World Evidence
Because rare diseases occur in small groups, traditional clinical trials may not work well. Researchers are now looking at real-world evidence gathered from patients' experiences to understand how effective treatments are. This approach considers what happens when patients receive drugs in everyday settings.
New Tools and Support
Scientists are developing new tools, such as the Medical Action Ontology, which organizes information about medical treatments. This helps healthcare providers find the best options for managing rare diseases. There are also databases being created to gather information on undiagnosed patients, which can help in identifying and treating more people.
Conclusion
While rare diseases can pose significant challenges, ongoing research and new technologies are paving the way for better understanding, diagnosis, and treatment. The goal is to ensure that every person with a rare disease has access to the care they need.