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:
- In 1994-95, Ferrell and David N. Finegold established the Lymphedema Family Study to identify new genes that predispose to primary, or inherited, lymphedema, which is the swelling of extremities due to the accumulation of lymph. By 2012, they would identify four of the seven genes that cause primary lymphedema. They hypothesized that mutations in those genes may also increase susceptibility to secondary lymphedema, a condition occurring commonly as a result of the treatment of breast and other cancers. In 2011, they identified Connexin 47 as a susceptibility gene for secondary lymphedema.
- In 1994, Kamboh established a study to understand the genetic basis of Alzheimer’s disease and amassed the largest collection of Alzheimer’s cases and normal controls from a single geographical location in Western Pennsylvania. It would eventually contribute, in 2011, to the identification of six new genes for this devastating neurodegenerative disease.
- In 1997, Kamboh initiated a study of the genetics of lupus, a prevalent autoimmune disease in which the body’s immune system attacks its own tissues instead of foreign substances such as bacteria and viruses. By 2008, his research group would play a major role in the discovery of three new genes for systemic lupus erythematosus.
- In 2011, Susanne M. Gollin discovered a new biomarker for a pair of genetic defects seen in tumor cell cultures that are resistant to radiation and chemotherapy. These studies have led to breakthroughs not only for oral cancer but other cancers including lung, breast, and ovarian, and are predicted to apply to prostate cancer and brain tumors.