While our department was officially established in 1989—the first human genetics department in an American school of public health—its origin traces to 1951 and the hiring of Ching Chun “C.C.” Li.
One of the founders of the field of population genetics and the author of several classic textbooks in the field, Li studied genetic associations of chronic diseases long before most researchers were aware of such connections. He promoted the understanding of the medical importance of genetics—a first step toward genetic testing and counseling—and gene therapy, and he and his colleague J. Howard Turner were the first to propose that six percent of newborns might develop a hereditary disease during their lives. He would serve as chair of the Department of Biostatistics from 1969 to 1975 and lay the foundation for human genetics to become its own department.
In 1971, Turner founded the Genetic Counseling Program at Pitt, one of the nation’s oldest. The two-year master’s-level program has produced hundreds of genetic counselors that serve all across North America. Robert E. Ferrell took over leadership of the human genetics program in 1984 and expanded its focus from statistical genetics to molecular and experimental genetics. He established a human molecular genetics laboratory and recruited a number of molecular geneticists, including M. Ilyas Kamboh, who would later become the department chair.
As the genetics program grew through the research of Li, Ferrell, Aravinda Chakravarti, and others, it was upgraded to the Department of Human Genetics in 1989. That same year, Chakravarti and colleagues played a key role in the identification and characterization of the cystic fibrosis gene.
Additional research highlights include the following:
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