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New genetic disorders discovered all the time

aorticcentretrust
Mar 19, 2014
1 min read

Updated: 20 hours ago

In the last twenty years or so, the mapping of the human genome has enabled the identification of the genes responsible for some hereditary forms of aortic disease.

Some of these conditions, such as Marfan's syndrome, Turner's syndrome & Ehlers-Danlos syndrome have been known of for decades but it has only recently been possible to identify the specific gene responsible for the condition. In other cases, such as Loeys-Dietz syndrome, the condition has only been identified for the first time in the last couple of decades.

New candidate genes and syndromes are being identified all the time. This exciting area of research raises the possibility of being able to prevent these disabling conditions altogether as opposed to treating the frequently devastating complications as and when they arise.

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