Biomedical research is a broad field of study that aims to find new ways to prevent and treat diseases that cause illness and death in humans and animals. This broad field of study encompasses a wide range of biological and physical disciplines. Biomedical researchers examine biological processes and disorders using technological techniques in the hopes of generating viable therapies and cures. In the past, there has been a focus on rare diseases, including research investigations, finding information on rare diseases, and the requirements and limitations of conducting clinical trials with small patient groups. The research community continues to acknowledge the growing role of patient advocacy organizations and patient engagement in all stages of clinical research. In the future, a better understanding and interpretation of accessible data from a variety of sources, including electronic health records and big data sources, will be required. Because of advancements in clinical trial design and data analysis, the pipeline of potential orphan products continues to increase dramatically and holds considerable promise for innovative interventions. The diagnosis of rare diseases will be sped up by expanding diagnostic procedures and improving sequencing technologies.