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Daily Archives: May 24, 2020

Congenital diseases reveal a lot about human biology

MEDIA (TAMURT) - And some can be treated—even if there is only one patient. When a clinician showed Dr Nizar’s sons a pain chart, they asked her what the smiley face at one end of the scale meant. The boys do not know, Dr Nizar says, what it is like to live without pain. Not all the diseases caused by calamitously failed single genes are quite that awful. But unlike the more generalised genomic influences on health—those to which everyone is heir, but few know about—people with serious congenital diseases have no escape or respite; their symptoms are inescapable.
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