Carriers of autosomal recessive conditions: are they really ‘unaffected?’

It is currently accepted that certain genetic diseases require the inheritance of two “disease-causing” genetic variants to result in symptoms of a disease. However, some early studies suggest that the inheritance of only one of these “disease-causing” variants may result in less severe disease symptoms. People who have only one “disease-causing” variant are called carriers.  This article provides some examples of such conditions where carriers present with some level of disease symptoms, but to a lesser extent than those diagnosed with the condition. Understanding how carriers may be affected in terms of symptoms and bodily function is important in order to provide appropriate healthcare in these cases. More research in carriers of these conditions is needed. (By Drs. Justine Keathley and Amber Hames, )

From left to right: Clara Gilliland, Kevin Magda, Amber Hames, Hillary Lo, Dr. Justine Keathley, Sophia Khan and Lucy Goldman.

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