Leon Rosenberg’s journey as a human geneticist began in 1959, when he was about to complete his first year of medical residency. Originally intent on becoming a physician, Rosenberg noticed other house officers taking research positions at the National Institutes of Health. Enticed by the idea of doing medical research, Rosenberg soon accepted a position at NIH. His experience there was initially disappointing, but with the support of Nathaniel Berlin, who became one of his mentors, Rosenberg was able to discover his passion at NIH. By studying real patients with puzzling disorders, Rosenberg quickly became a pioneer in human genetics. The first event that kindled Rosenberg’s interest in human genetics was his study of a young boy named Steven Busby. Steven was quite healthy until age three, but suddenly began to lose muscle everywhere in his body. Curious as to what caused Steven’s condition, Rosenberg examined Steven’s laboratory tests and noticed that Steven’s urine had unusually high levels of amino acids. Rosenberg then learned from Steven’s mother that his older siblings also suffered and died from the same symptoms. He determined that Steven’s disorder must be genetic, and performed tests on Steven’s family accordingly. The results indicated autosomal recessive inheritance. …show more content…
He learned that studying families is paramount in human genetics, that scientists must be cautious about the assumptions they make, and that asking questions about his patients could be likened unto detective work. As Rosenberg completed the remainder of his residency, he not only inquired about the patient’s diagnosis and treatment, but also asked why the patient had the illness and inquired about the genetics behind it. He was one of the first physicians to discuss the idea that genes were involved in human