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Rare diseases


Rare diseases, or uncommon diagnoses, is a generic term for a range of diseases that affect very few people. The European criteria for a disease or diagnosis to be designated as uncommon is that it is present in a maximum of 1 in 2,000 people and leads to disability. In total there are more than 6,000 uncommon diseases and even though each diagnosis is rare, overall there is a large number of people living with a rare disease.


Care in connection with rare diseases

These diseases create special needs due to the fact that they are rare, serious, chronic and sometimes progressive. It can be difficult and take a long time to obtain the right diagnosis, to find correct information or obtain a referral to the right specialist doctor. It is not always that effective treatment, or access to it, is available and it can also be problematic and take a long time to obtain social and medicinal care for the disease. For many people, it is difficult to retain their independence and participation in working life, to be able to participate in social contexts and be active in society.  

There is a major need for improved care, diagnostics and treatment in relation to uncommon diseases. Chiesi has focused on increasing knowledge within several rare disease areas.In februari 2020 Chiesi Group annonced the formation of Global Rare Diseases unit, that will harness the full resources of the Chiesi Group to advance research and new product development for rare and ultra-rare diseases. The unit will be headquartered in Boston, Massachusetts and have an initial focus on research and product development in lysosomal storage disorders, rare haematology and ophthalmology disorders.