Duke Center for Human Genetics Duke University Medical CenterDuke University

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Core Research Programs

Molecular Genomics

Genetic Epidemiology and Statistical Genetics

Subject Ascertainment and Clinical

DNA Bank

Clinical and Laboratory Informatics

Education, Outreach, and Compliance

Shared Resources
Software Downloads

Core Programs

Established by Duke University Medical Center in 1996, the Center for Human Genetics pursues gene identification projects through partnerships with clinicians and basic scientists around the world. This collaborative approach accelerates the discovery of complex genes involved in ophthalmological, neurological, and cardiovascular diseases.

In support of our research concentrations, the CHG has established Core resources that enable genetic studies for Duke investigators and for collaborative groups. Thus, CHG activities are distributed across seven different cores:

  1. Molecular Genomics Core
  2. Genetic Epidemiology and Statistical Genetics Core
  3. Patient Ascertainment and Clinical Core
  4. DNA and Tissue Banking Core
  5. Clinical and Laboratory Informatics Core
  6. Education, Outreach, and Compliance Core

A CHG faculty member oversees each core. Core directors report regularly to the CHG Director on progress and milestones and provide annual needs assessments. Collaborators access these collaborative cores by contacting the CHG Director, Dr. Elizabeth Hauser, or one of the core directors. They are then introduced to the CHG integrative process and scheduled to meet with one or more CHG faculty members depending on their needs and areas of interest. CHG faculty members interact with DUMC researchers in all aspects of project development — from the initial study design to the preparation of a collaborative application. Funded studies are similarly assigned the appropriate faculty member, again matching project specific expertise. This approach has been highly successful in the development and successful funding of many collaborative efforts across DUMC.

Major Research Themes

There are three major research themes within the CHG that form the basis for our research activity and are integrated in numerous individual research projects:

Disease Gene Discovery
A main focus of the CHG continues to be the determination of genetic etiologies of human disease. Discoveries in this area could potentially lead to treatment and prevention strategies impacting patients and their families. This focus integrates sample and data management with molecular genetic and statistical genetic expertise. This unique element of the CHG  —  the close integration and interactions of molecular geneticists, clinicians, statistical geneticists, genetic epidemiologists, programmers, bioinformaticians, genomicists and biologists — leads to new approaches and solutions to the challenges of modern human genetics. Genomic convergence, the pedigree disequilibrium test, ordered subsets analysis and iterative association mapping are just some of the more recent new approaches that have originated in the CHG to help identify disease genes.

While we continue to work on Mendelian and single gene disorders, our unique interdisciplinary environment of statistical and molecular expertise coupled with state-of-the-art infrastructure has resulted in the CHG becoming a leader in identifying the genes that contribute to common, complex diseases. Historically, the CHG has been internationally recognized for work in neurogenetic diseases such as Alzheimer disease, Parkinson disease, neuropathies, autism, muscular dystrophies, and neural tube defects. Working closely with clinical experts in a variety of disciplines over the past several years we have expanded this expertise into other disciplines such as cardiovascular disease, ophthalmologic disorders, psychiatric disorders, lung disease, hematologic disease, cancer and infectious diseases.

We are expanding our current efforts in gene discovery, integrating new technology developed both within and outside of the CHG and applying it to human disease. Working together with our Duke colleagues as well as a host of international collaborators, we will continue to study complex diseases using our integrated and comprehensive approach.

Medical and Public Health Genetics
CHG researchers were among the first to develop model carrier and prenatal detection programs in the muscular dystrophies, establishing DUMC as a leader in translational genetics research. We are committed to using our established expertise to continue to facilitate the application of medical genetics breakthroughs from our gene discovery program into the standard care of patients, both at Duke and beyond.

One of the overriding goals of a leading medical center is to integrate new technology, information and advances into clinical activities. Medical genetics is becoming an increasingly important component of the next generation of health care. No longer will the few thousand genetic specialists alone be able to handle the public's genetic needs. Advances in human genetics, particularly those driven by the Human Genome Project, have greatly improved our ability to identify and generate clinically relevant genotypes in an increasingly time- and cost-efficient manner for common disorders. The CHG, as a leading human genetics research group at DUMC, works to advance the application of medical genetics throughout the DUMC system. This will lead DUMC to become a leader in the national effort to translate genetic information from the bench to the bedside. To do this, continuing education of health care professionals and the creation of a genetically literate community are necessary. Success in this effort will require an integrated and comprehensive approach, which fits well within the structure and mission of the CHG and DUMC's stated goal to move translational medicine to patient care.

Computational and Statistical Genetics
The CHG's research focus on computational and statistical genetics uses the latest approaches in computational biology, computer science, bioinformatics and statistics to develop and apply methods to sort through increasingly rich data sets to identify complex genetic patterns. To this end, the CHG has developed a research faculty with expertise in both theoretical and applied statistical genetics, genetic epidemiology, and with applied bioinformatics expertise. The CHG faculty is on the cutting-edge of development of new analytical methods as well as the innovative application of these methods to understanding the etiology of complex diseases. CHG statistical geneticists are internationally recognized for their development of association and linkage methods for disease gene discovery and for methods than enable the incorporation of clinical data. The PEDIGENE® information system and the related NautilusTM (ThermoLabSystems) Laboratory Information Management System (LIMS), used for data, sample and resource management, form the basis of this research focus. These unique resources enable the CHG to tackle the most difficult problems efficiently and are the cornerstone of the many successful endeavors of CHG researchers and their collaborators.

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