Richard Spritz, MD


Posted on August 13th, 2019

Dr. Richard Spritz is founder and Director of the Human Medical Genetics and Genomics Program at the
University of Colorado School of Medicine. He received his B.S. degree from the University of Wisconsin-
Madison and his M.D. from Pennsylvania State University. After a pediatric residency at Children’s
Hospital of Philadelphia and a human genetics fellowship and postdoctoral work at Yale University, he
held a faculty position at the University of Wisconsin-Madison for 18 years, moving to Colorado in 1998.

Starting from medical school, Dr. Spritz has worked on defining the genetic, biochemical, cell biological,
and molecular basis of human disease. His lab characterized the genetic and biological underpinnings of
many Mendelian (single-gene) disorders, including thalassemia, various pigmentary diseases such as
albinism and piebaldism, disorders of organelle biogenesis such as Hermansky-Pudlak syndrome and
Chediak-Higashi syndrome, types of cleft lip and palate, and many others. For more than two decades,
his work has focused principally on the genetic and biological basis of complex human disorders, such as
autoimmune diseases and cleft lip/palate, as well as normal human traits such as facial shape and
pigmentation. Most recently, his efforts have focused on the genetic architecture of complex disease,
and the relationship between genetic architecture and environmental triggers of disease.

Richard Spritz, MD
Director, Human Medical Genetics and Genomics Program
Professor, Department of Pediatrics, University of Colorado School of Medicine