As a graduate student, I studied the genetics of Hirschsprung disease, a congenital disorder of the nervous system in the gut (and, as I describe in my book, a disease that would affect my own family many years later). Among the things I found to be most gratifying (and yes, occasionally frustrating) in my doctoral studies were the interactions with Hirschsprung patients and families. We students had pledged our fealty to Science writ large, yes, but we weren’t studying roundworms or fruit flies. Our “subjects” (a descriptor of research participants that, in my opinion, is condescending and should be retired ASAP) were thinking feeling human beings. If we found a highly penetrant mutation in their DNA, it had the potential to alter their reproductive decisions and their lives. It meant something to them.
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