History of Genetics and Metabolism

Medical historians list 1948 as the start of the scientific approach to human genetic studies, linking it to the founding of the American Society of Human Genetics. That was the same year Theodore Puck, MD, was recruited by the University of Colorado Medical School to launch and chair its Department of Biophysics. Puck’s work in somatic cell genetics and single-cell plating, an early form of genetic cloning, and that of other genetics pioneers would make possible the international Human Genome Project (1990 to 2003).

Several of Puck’s most-cited research studies list Arthur Robinson, MD, as a co-investigator. A community pediatrician and member of the Department of Pediatrics faculty, Robinson shared the story of Puck’s and his 40-year collaboration in a 1990 autobiographical article published in The American Journal of Medical Genetics (April 1990). “My interest and involvement in genetics grew as our friendship grew … and it was he who had the vision to take genetics out of the basic science laboratory to the practice of medicine.”

Puck, Robinson, and their team confirmed research completed in 1956 by Joe Hin Tijo, PhD, showing that the human chromosomal count is 46, not 48 as previously thought. In 1964, they described a method for identifying the X chromosome in human fetuses at birth.

Nearly 60 years later, research leading to early detection and improved management of genetic disorders and predispositions remains a priority. Concurrently, the Genetics and Inherited Metabolic Diseases Program at Children’s Hospital Colorado cared for more than 5,600 families from across the Rocky Mountain region.