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The European Union (EU) defines a disease as rare if it affects no more than 5 in 10,000 people1 in the EU. Up to 8,0001 rare diseases exist worldwide.  In most cases, rare diseases present a highly complex clinical picture. One thing that they have in common is a typically chronic progression. Sufferers are frequently affected by disabilities and/or have a limited life expectancy. Around 80%1 of rare diseases have genetic origins or are in part due to genetic damage, and they are seldom curable.


Chiesi are currently undertaking research to develop new technologies designed for rare diseases. These include gene therapy, stem cell therapy and enzyme replacement therapy.


Gene therapy is a treatment that involves altering the genes inside the body's cells to stop disease. Genes contain DNA, i.e. the code that controls much of the body's form and function and regulates the body's systems. Genes that don't work properly can cause disease. Gene therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve the body's ability to fight disease. Gene therapy holds promise for treating a wide range of diseases.


Stem cell therapy, also known as regenerative medicine, promotes the body's own repair response to regenerate diseased, dysfunctional or injured tissue. This technique involves collecting cells from a patient in the form of a small biopsy and then processing these cells in a specialised laboratory to develop a product that can be put back into the same patient to repair the affected tissue.


Enzyme replacement therapy refers to the treatment of enzyme deficiencies using manufactured enzyme preparations to replace the body's own naturally-occurring enzyme that is missing or defective. These therapies are usually given by regular intravenous infusion. The diseases treated are generally rare genetic disorders that affect children and young adults.



1.  http://www.raredisease.org.uk/about-rare-diseases.htm [Accessed November 2016]