This article discusses the use of artificial intelligence (AI) and next-generation sequencing (NGS) to aid in the diagnosis of rare diseases. Rare diseases affect a significant portion of the population, and their diagnosis is important in both specialized medical centers and general practice. NGS has become more accessible and affordable in recent years, but the analysis process can still take several months. The article presents a case study where AI tool ChatGPT was used to generate potential genetic targets based on a patient's medical history, leading to the confirmation of a diagnosis of Alström syndrome within two business days. The combination of AI and NGS shows promise in accelerating the diagnostic process for patients with complex medical backgrounds. [Extracted from the article]