Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/40285
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. |
URI: | https://www.um.edu.mt/library/oar//handle/123456789/40285 |
Appears in Collections: | The Synapse, Volume 17, Issue 2 The Synapse, Volume 17, Issue 2 |
Files in This Item:
File | Description | Size | Format | |
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The_Synapse,_17(2)_-_A2.pdf | 9.49 MB | Adobe PDF | View/Open |
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