An oft-cited, seminal study led by Engage in collaboration with Global Genes of rare disease patients/families, and their healthcare providers of physician training. This study is the source of the unfortunate finding that the average rare disease patient sees 7.3 physicians before diagnosis, meaning lack of understanding of where to refer patients is as much to blame for delayed diagnosis as a lack of rare disease knowledge, and highlights the need for more robust physician education regarding targeted referrals.

Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need for Stronger Educational Initiatives for Physicians

Enhancing Awareness and Understanding of Gene Therapy among Rare Disease Communities: A Research-Driven Roadmap (Smith C., Burns K., Engel P., Steinberg P.; 2015)