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

  • Identified a novel gene influencing obesity with collaborators in Samoa
  • Contributed to the identification of genes that influence development, as well as response to treatment, of late-onset Alzheimer’s disease, a devastating neurodegenerative disorder
  • Identified novel genes influencing oral health and craniofacial traits
  • Identified genes and biological pathways influencing rare disease such hereditary hemorrhagic telangiectasia (HHT) and autosomal dominant leukodystrophy (ADLD)
  • Developed new statistical and bioinformatic methods for genetics research, including computational cancer models
  • Reported on the ethical issues involved in the return of genetic results obtained from clinical, research, and direct-to-consumer settings to patients, family members, and the public 
  • Developed new statistical and bioinformatic methods for genetics research.
  • Developed new paradigms for public health genetics 

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
  • Centers for Disease Control and Prevention, Office of Public Health Genomics
  • NYMAC Regional Genetics Network

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