University of Montreal geneticist Mark SamuelsCOURTESY OF MARK SAMUELS
A few years ago, University of Montreal geneticist Mark Samuels feared he had hit a dead end in his search for genetic mutations behind Meier-Gorlin Syndrome (MGS)—a rare autosomal recessive disorder characterized by small ears, a lack of kneecaps, and short stature.
Samuels was studying a group of MGS patients he had deemed ideal for the study because they belonged to a population that had remained relatively genetically isolated over the past few centuries. They were the descendents of Acadians—a group of early French colonists (distinct from the Quebeçois)—who settled along the coast in Eastern Canada in the 1600s and eventually seeded the Cajun community in Louisiana after being expelled by the British in the mid-18th century.
Samuels tracked down affected families in both Canada ...
