What are Rare Diseases?
Rare diseases are commonly defined as those with a prevalence of less than 5 in 10,000 people. As of 2021, more than 7000 known rare diseases have been identified. Since the introduction of next-generation gene-mapping technologies, more than 100 novel disease-gene associations are currently being identified per year. For a quarter of patients with rare diseases, the time from first symptoms to diagnosis is 5 to 30 years, and during this interval, rates of initial misdiagnosis may be as high as 40%.
Rare Disease Facts
What role does Rare Genomics Institute play?
RG Helps design personalized research projects, provides expert analysis and recommendations, and connects patients to case-specific researchers for precision medicine development.
RareShare
RareShare is an online social hub that hosts over 7,000 rare disease communities and empowers patients through sharing of experiences, best practices and providing access to resources and Physicians.