Research & Practice

Research and Practice in Human Genetics

Ever since the completion of the Human Genome Project, the role of genetics in medicine has increased exponentially. The identification of genetic factors for different diseases has helped researchers to understand the underlying biological mechanisms that may one day lead to therapeutic treatment and prevention of disease. As a leader in human genetics research, Pitt Public Health is growing the world's understanding of the role of genetics in treating and preventing many diseases.

Research Highlights

  • establishment of the Lymphedema Family Study to identify new genes that predispose to primary, or inherited, lymphedema. By 2012, researchers had identified four of the seven genes that cause it. They also hypothesized that mutations in those genes may increase susceptibility to secondary lymphedema, a condition commonly occurring as a result of the treatment of breast and other cancers. In 2011, they identified Connexin 47 as a susceptibility gene for secondary lymphedema.
  • establishment of a study to understand the genetic basis of Alzheimer's disease, which amassed the largest collection of Alzheimer's cases and normal controls from a single geographical location in Western Pennsylvania. In 2011, the study contributed to the identification of six new genes for this devastating neurodegenerative disease.
  • establishment of a study on 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. The research group played a major role in the discovery of three new genes for systemic lupus erythematosus.
  • discovery of a new biomarker for a pair of genetic defects seen in tumor cell cultures that are resistant to radiation and chemotherapy. The biomarker can be used to identify patients with tumors resistant to standard therapy. Those patients can be given targeted therapy to first effectively kill the tumor cells, followed by standard therapy. 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.
  • Our large statistical genetics group is actively involved in developing new statistical and bioinformatic methods for genetics research.

Collaborating Partners

  • Pitt Public Health Departments
  • Pitt Schools of Medicine, Dental Medicine, and Nursing
  • Children's Hospital of Pittsburgh of UPMC
  • Magee-Womens Hospital of UPMC
  • University of Pittsburgh Cancer Institute Cancer Genetics Program

Research areas

  • cardiovascular disease
  • cancer
  • diabetes
  • osteoporosis
  • pancreatitis
  • inflammatory bowel disease
  • age-related macular degeneration
  • obesity
  • otitis media
  • Down syndrome
  • disorders of elastic fibers
  • demyelination disorders
  • lupus
  • Alzheimer's disease
  • Lymphedema
  • Cutislaxa
  • aging
  • primary (inherited) lymphedema