Despite the inherent challenges in developing treatments for rare diseases, there have been significant advancements in therapeutic innovations. From small molecule drugs to gene and cellbased therapies, researchers are exploring diverse modalities to address the unmet medical needs of individuals with rare diseases. Collaborative initiatives, regulatory incentives, and patientcentered trial designs are accelerating the translation of scientific discoveries into clinically meaningful interventions. AI is also being utilized from drug target discovery to the clinical pipeline, and beyond, to speed pharmaceutical progress and development. The sharing of data and resources through collaborative platforms and consortia has emerged as a cornerstone of rare disease research. Initiatives such as the Global Alliance for Genomics and Health (GA4GH) and the Undiagnosed Diseases Network (UDN) 453 facilitate data exchange, harmonize standards, and foster interdisciplinary collaborations, thereby maximizing the impact of research efforts and empowering patients and families with rare diseases. Table summarizes specifically the outlook and perspectives on amyotrophic lateral sclerosis, Huntington's disease, and myasthenia gravis.