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%.

What role does Rare Genomics play?

RG Helps design personalized research projects, provides expert analysis and recommendations, and connects patients to case-specific researchers for precision medicine development.

Rare Disease Facts

80% of patients are affected by 350 of the 7000 documented rare disease while 20% are afflicted by the rest.

1 in 10 people in the U.S. suffer from a rare disease

50% affected by rare diseases are children.

30% will not live to see their 5th birthday.

300 million people worldwide are affected by rare disease

Rare diseases are responsible for 35% of deaths in the first year of life