Rare Genetic Diseases: Challenges in Diagnosis and Treatment
Rare genetic diseases present a unique set of challenges in both diagnosis and treatment. These conditions, often referred to as orphan diseases, are characterized by their low prevalence in the population. Although individual rare diseases may be uncommon, collectively, they affect a significant number of people worldwide. Here are some of the key challenges associated with rare genetic diseases in the context of diagnosis and treatment:
Limited Knowledge and Research:
Rare diseases are often poorly understood due to limited research and knowledge about their underlying genetic and molecular mechanisms. This lack of understanding makes it difficult to develop effective treatments.
Delayed or Missed Diagnosis:
Many rare genetic diseases manifest with nonspecific symptoms that ...