Human Genetics Center

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The mission of the Human Genetics Center is to understand the genetic etiology of the common chronic diseases including: cardiovascular disease, diabetes and various vision disorders. This objective is pursued and accomplished in multiple human populations.

boerwinkle | Human Genetics Center

Center Director Eric Boerwinkle

Understanding the genetics of these diseases involves:

  • locating and characterizing genes underlying the common chronic diseases,
  • characterizing the extent and utility of DNA variation within and among populations and determining how these patterns of variation evolved in both time and space,
  • establishing the impact of gene variation on the health of individuals, families and populations.

At each step, the role of computational and bioinformation approaches and resources are preeminent. It is the vision of the Human Genetics Center to be the world’s preeminent research unit focusing on the genetics of common chronic disease. The faculty, students and staff exceed 100 scientists and support staff.

Many of the HGC faculty have cross-appointments to The UT Graduate School of Biomedical Sciences (GSBS) and are eligible to sponsor and advise GSBS students admitted for the MS (Human Molecular Genetics and Genetic Counseling), PhD and MD/PhD programs. These cross-appointed faculty are all members of the Program in Human and Molecular Genetics at GSBS.

Most Human Genetics Center (HGC) faculty have primary appointments in the Division of Epidemiology and Disease Control. Through the division they sponsor and advise MS, MPH and PhD students.

About the Center

History of the Center

The Human Genetics Center was established as a unit within the School of Public Health on September 1, 1994. It represents the consolidation of two long-standing research Centers that had been joint enterprises of the Graduate School of Biomedical Sciences and the School of Public Health. These two Centers, known as the Center for Demographic and Population Genetics and the Medical Genetics Center, were established in 1971. The consolidated Center has been designated by the World Health Organization as a collaborating center for the investigation of the genetics of common disease.

At present, funded research projects focus on common diseases such as cardiovascular disease, diabetes, hypertension, obesity and eye disorders. All have been shown to have a strong genetic component, but the number of genes involved their locations, risk-producing mutations and interactions are yet to be resolved.

Center faculty are actively involved in research ranging from completely scanning the human genome for diabetes and hypertension genes to characterizing specific mutations for eye disorders to establishing the evolutionary dynamics of genetic variation in disease genes. The Center is also involved in the assessment of the forensic utility of DNA testing, the establishment of a national DNA testing database for use in research, and the conduct in association with the Department of Ophthalmology, of a laboratory for the molecular diagnosis of inherited eye diseases. In addition to national and international efforts, the Center has maintained a field station in Rio Grande City, Texas since February 1981 to facilitate investigation of common disease problems among the Mexican-American population of Texas.

Funding of the Center’s research comes almost exclusively from external sources including the National Institutes of Health, the National Institute of Justice, the Foundation for Fighting Blindness and the American Diabetes Association.

Objectives

  • Train genetic investigators in molecular and cellular biology and the management, use and analysis of familial and population-oriented data.
  • Provide educational and research opportunities for doctoral students and post-doctoral fellows through employment on externally derived research funds.
  • Understand the contributions of genetic factors to those common diseases that account for most of the mortality in the public health context.
  • Understand the forces that influence the patterns of naturally occurring variation in the human genome, and how those patterns can be exploited to understand human disease.
  • Continue to expand our base of research through closer interdisciplinary collaboration with other research groups in the Texas Medical Center, in particular those located in the Health Science Center s School of Public Health and School of Medicine.
  • Seek external support to maintain the state-of-the-art laboratory and computing equipment which is essential to our research.

Research

Research Areas

  • Genetics of cardiovascular disease
  • Genome variation
  • Bioinformatics
  • Genetic epidemiology
  • Computational biology
  • Molecular evolution
  • Computational genomics
  • Genome-wide linkage and association analyses
  • Population genetics theory
  • Statistical methods for DNA sequence analyses
  • Statistical and computational methods in human disease
  • Genes and mutations causing retinal diseases
  • Diabetes
  • Genotyping and DNA sequencing
  • Retinal pathophysiology
  • Quantitative genetics
  • Chronic diseases in Mexican-Americans