An orphan / rare disease is defined as a disease whose percentage of patients is less than 1% of the general population. Today, about 6,000 diseases are defined as orphan or rare, with a small number of patients. Accordingly, the economic potential for developing drugs or treatments for these disease is low, and investments by industrial companies are low. However, about 6% of the world's population and about 60,000 patients in Israel suffer from an orphan disease.

The great importance of research on rare / orphan diseases is that it allows for the identification of mutations that cause disease, thus contributing to their early diagnosis. Moreover, these studies allow us to identify new biological pathways involved in the development and molecular activity of the human body, in healthy and diseased conditions, and contribute to identifying proteins that may be the target of new drugs.

In the past decade, genomic sequencing of human samples, whether exomes or whole genomes, has made an invaluable contribution to our ability to decipher the molecular basis of rare and orphan diseases.

In order to strengthen and advance the scientific research infrastructure in Israel in the field of rare / orphan diseases, the Ministry of Science and Technology established  the National Knowledge Center at Ben-Gurion University. The main purpose of this center is to provide the entire research community in Israel (academia and industry) with the unique infrastructure required for advanced research in this field.

The Knowledge Center will provide scientific-research services based on recent scientific discoveries and cutting-edge bioinformatics tools. The center is committed to providing a service, that includes infrastructure and knowledge, to every scientist and researcher in Israel, through unique professional knowledge and skills, a dedicated laboratory and advanced computer infrastructures.

The National Knowledge Center for Rare / Orphan Diseases will provide a comprehensive service to aid in the research of rare / orphan diseases, for researchers from around the country from academia, hospitals, government research institutions and industry.