Diagnosing rare diseases is difficult and time-consuming, and there is often no cure. AI improves diagnosis and treatment for patients.
Rare diseases are defined as diseases that affect fewer than 200,000 people in the United States. There are an estimated 7,000 rare diseases, and each one can be very different from the others. Rare diseases can be caused by genetic mutations, environmental factors, or a combination of both. The symptoms of rare diseases can vary widely, and they can range from mild to life-threatening. Diagnosing rare diseases can be difficult and time-consuming, and there is often no cure (1).
Some examples of rare diseases include cystic fibrosis, muscular dystrophy, and Huntington's disease. These diseases can cause a wide range of symptoms, including physical disabilities, cognitive impairments, and emotional problems. Rare diseases can have a significant impact on a person's life, and they can be very expensive to treat. Despite the challenges, there is a growing effort to raise awareness of rare diseases and to find new treatments. There are also a number of organizations that provide support to people with rare diseases and their families. With continued research and advocacy, it is possible to improve the lives of people with rare diseases (1).
Rare diseases pose unique challenges due to their limited prevalence and the often complex nature of their diagnosis, treatment, and management. These conditions, also known as orphan diseases, typically affect a small number of individuals, making it difficult to gather sufficient data, conduct research, and develop effective treatments. The rarity of these diseases often leads to delayed or misdiagnosis, as healthcare professionals may be unfamiliar with their symptoms and characteristics. This can result in prolonged suffering and a lack of appropriate medical interventions for patients (1).
Additionally, the scarcity of patients with rare diseases can make it challenging to attract investment and funding for research and development. Pharmaceutical companies and healthcare providers may be hesitant to invest resources into developing treatments for a small patient population, as the potential return on investment may be limited. Consequently, many rare diseases remain poorly understood, with limited treatment options available. Patients and their families often face significant physical, emotional, and financial burdens as they navigate a healthcare system ill-equipped to address their specific needs. The lack of awareness, limited research, and insufficient support networks further compound the difficulties faced by individuals living with rare diseases, highlighting the urgent need for increased attention and resources in this field (2).