Rare diseases

Have a frequency of 1 in  2000.

More than 10,000 rare diseases.

A rare disease affects more than 200,000 people living in the US.

Affects about 4-6% of the population in Western societies.

Rare cancers are associated with incidence of less than five or six per hundred thousand person-years. making almost all pediatric cancers rare.

Approximately 30 million people are affected by a rare disease.

More than half of the 30 million people affected by a rare disease or children.

More than 80% of rare diseases have a genetic component.

Most rare diseases are serious and can involve chronic illness, disability and death.

1/3 of children with a rare disease die before their fifth birthday.

Next generation sequencing has improved rates of diagnosis.

Systematic genome sequencing helps understand the phenotypic heterogeneity of common diseases, and improves the diagnosis of rare diseases.

Diagnosing rare diseases is a lengthy process that can take up to seven years and involves up to eight physicians and two or three misdiagnoses.

Heterogeneity of clinical symptoms is arguably the primary reason why many patients with rare diseases remain without a diagnosis or have a misdiagnosis for years.

Treatments exist for fewer than 5% of individuals with rare conditions.

One in 10 Americans is affected by a rare disease.