The Focus of Our Efforts

Currently there are about 7,000 rare diseases identified globally. It is thought more than 400 million people are living worldwide with a rare disease. Many of these rare diseases are also referred to as orphan diseases, meaning there is very little understanding of their causes and symptoms. For this reason, a rare disease can be tough to identify and diagnose, leaving patients without a diagnosis and crucial support for years at a time. Greater awareness of a rare disease is the key to improving those living with genetic syndromes.