Genetic studies in isolated populations: Victor McKusick's contributions to population genetics

Abstract

Shortly after my arrival at Johns Hopkins in September 2000, as the Director of the McKusick-Nathans Institute of Genetic Medicine, Victor McKusick presented me with a copy of his book Medical Genetic Studies of the Amish: Selected Papers [1]. This collection of previously published papers, many authored by McKusick, his collaborators, and his trainees, was assembled with commentary and published by McKusick in 1978. The total body of research represents a broad view of the contributions of the Old Order Amish communities to human medical genetics. McKusick was keenly aware of my prior work in population genetics and complex disease, including among the Old Order Mennonites of Pennsylvania and Ohio, and presented me the book wanting me to be more educated on the genesis and history of these genetic studies. I surmised that he also wanted me to continue these types of studies through the newly founded Institute but now with greater molecular depth in the age of the human genome sequence [2, 3].