28 February, 2022

World Rare Disease Day

A rare condition is defined as one that affects less than 1 in 2,000 of the general population.

Rare diseases include rare cancers, such as childhood cancers, and some other known diseases such as cystic fibrosis and Huntington’s disease.

There are between 5,000 and 8,000 known rare diseases. 95% of them have no cure.

There are an estimated 300M people with rare diseases in the World. 50% of patients are children and 30% do not survive until 5 years.

Rare diseases currently affect 3.5% – 5.9% of the world’s population.

Most rare diseases have a genetic background, i.e. about 72% of rare diseases are due to mutations in our genes. This emphasizes the importance of early and valid diagnosis, because it ensures the best care of patients.

The diagnosis can be made with Whole Exome Sequencing (sequencing of all exons of the genome) by analyzing over 20,000 genes associated with hereditary diseases. In this way it helps in the diagnosis and provides valuable information to help the specialists to identify the rare diseases.

For more information on iGenome