SNAPSHOTS: In addition to being a prolific scientist, Victor McKusick was an avid photographer. “He documented everything with his camera,” Francomano says. “His collection of photographs is unparalleled.” This was a bit of an issue among the Amish, she adds, because taking pictures ran counter to their community’s beliefs. However, they often agreed to have snapshots taken for medical purposes. Here McKusick photographs the hands of an Amish child with Ellis–van Creveld syndrome. THE ALAN MASON CHESNEY MEDICAL ARCHIVES OF THE JOHNS HOPKINS MEDICAL INSTITUTIONSIn the early 1960s, Victor McKusick, an American clinician and scientist, was in the early stages of his pioneering work in the field of medical genetics. He had recently left cardiology, and, after amassing over more than a decade’s worth of data on inherited connective tissue disorders, had established Johns Hopkins University’s first medical genetics program and clinic in 1957.
Around this time, a forthcoming book and an article drew McKusick’s interest to Amish communities. The book, Amish Society by sociologist John Hostetler, which McKusick reviewed for Johns Hopkins University Press before publication, made him realize that the Amish—who reside in groups founded by a small number of couples, stay isolated from the rest of society, and carefully document their genealogy—would be a perfect community in which to examine recessive phenotypes. Recessive disorders are more common in groups of genetically similar individuals because parents with shared ancestry tend to bear children with large homozygous regions in their genomes.
The other publication that captured McKusick’s attention was a magazine article by a physician, David Krusen, that noted high rates of achondroplasia, a common form of dwarfism, ...
