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Unraveling the Genetics of Disease
CHORI's Center for Genetics

The revolution of genetic sequencing provides
Prevention depends on prediction. If we are able to pinpoint the responsible genes, new prevention strategies and ‘designer’ interventions could follow. - Janelle Noble, PhD
the potential to profoundly impact our approach to the prevention and management of many diseases, from birth defects to diabetes. The Center for Genetics at CHORI, led by Center Chair and CHORI Deputy Director David Martin, MD, is at the forefront of that revolution, bringing together 13 different laboratory programs dedicated to unraveling the basis of human genetic variation and its affect on disease susceptibility and progression.

Disease can result from genetic alterations (changes in DNA) or epigenetic factors (alterations in gene expression not related to changes in DNA). Genetic, epigenetic and environmental factors may all interact together to create disease. Even single gene disorders have genetic modifiers that influence presentation, progression, severity or response to treatments. By working to identify the genes or epigenetic influences responsible for such debilitating conditions as autoimmune disorders, cancer, diabetes or spina bifida disease, CHORI researchers hope to dramatically improve the repertoire of tools for disease prevention and management.

Envision a world in which clinicians choose the most optimal treatment strategies based on an individual’s genetic information, while researchers utilize that same information to design preventative and therapeutic agents for specific groups of individuals. With CHORI’s powerful combination in the Center for Genetics of innovation, collaboration and dedicated research, that world could just be possible. Explore the links in the sidebar menu to discover all that CHORI's Center for Genetics has to offer.

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