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Title: Rare diseases : why bother?
Authors: Agius, Francis
Keywords: Rare diseases -- Diagnosis
Rare diseases -- Malta
Rare diseases -- Patients
Physician and patient -- Malta
Medicine -- Information technology
Issue Date: 2018
Publisher: Medical Portals Ltd.
Citation: Agius, F. (2018). Rare diseases : why bother? The Synapse : the Medical Professionals' Network, 17(2), 9-11.
Abstract: Rare diseases are those diseases that affect a small number of people when compared to the general population. In 2009 the EU adopted the definition that a rare disease has a prevalence of less than five persons being affected out of 10 000 persons.1 An important estimation is that 8% of the population is born with, or develops, a rare disorder over their lifetime. Thus, it is estimated that around 30 million Europeans suffer from a rare disease. Based on the same assumption, the Maltese rare disease population should be around 25,000 patients. The EU definition further states that rare diseases are life-threatening or chronically debilitating conditions. About 80% of rare diseases have a genetic origin, being either monogenic or polygenic.
Appears in Collections:The Synapse, Volume 17, Issue 2
The Synapse, Volume 17, Issue 2

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