In 1969, Victor McKusick, widely acknowledged as the father of medical genetics, spent his career studying the genetic basis of diseases and disorders with the belief that such an understanding could lead to new methods of diagnosis and treatment.

He studied, identified, and mapped genes responsible for inherited conditions such as Marfan syndrome and dwarfism (specifically in Amish communities). In 1969, he proposed the idea of mapping the human genome, over 30 years before the Human Genome Project was established.