PURPOSE: Rare diseases (RDs), which are often chronic, degenerative, and life-threatening conditions, pose significant challenges due to their complexity and limited awareness among healthcare professionals. This study assessed the knowledge, awareness, and educational needs related to RDs among 5th- and 6th-year medical students at Atatürk University, Başkent University, and Istanbul University, as well as pediatric and non-pediatric specialists in Türkiye, with a focus on differences between these groups. MATERIALS AND METHODS: A total of 258 physicians and 132 medical students participated. Data were collected through surveys examining demographics, self-assessed knowledge, awareness, and perceptions of RD-related education. Statistical analyses evaluated differences in knowledge and awareness across the groups. RESULTS: Pediatric specialists reported significantly higher self-assessed RD knowledge than non-pediatric specialists. However, both groups showed notable gaps in awareness, particularly concerning RD prevalence and diagnostic timelines in Türkiye. Most participants expressed interst in further education but were unaware of available resources. Among students, 65.9% rated their RD knowledge as 'Poor' or 'Very Poor,' with no significant differences observed across institutions despite curriculum variations. CONCLUSION: The findings highlight a critical lack of competence in RD-related knowledge among healthcare professionals, especially non-pediatric specialists. To address this gap, we recommend integrating integrating RD-specific into medical curricula, promoting continuous professional development through specialized training events, and enhancing the visibility of reliable RD information sources. These measures are crucial for improving early diagnosis and management of RDs, ultimately enhancing patient care and outcomes in Türkiye.