A rare genetic disease arises from mutations in a person’s genes or chromosomes. In the United States, a disease is classified as rare if it affects fewer than 200,000 people at any given time. Globally, rare diseases impact an estimated 300 million individuals, with over 7,000 distinct conditions identified. Despite their widespread impact, rare disease research often faces significant barriers. Limited funding for research and the small size of affected populations make drug development and clinical trials particularly challenging.