Unprecedented Opportunity

The sequencing of the human genome has created an unprecedented opportunity to apply new knowledge and technology to improve human health. The goal of the CCTS Genomic & Precision Medicine Special Module is to connect clinical and translational researchers to expertise and capacity to undertake genetic and genomic investigation. In this way, the Network will accelerate discoveries in genomics and genomic medicine and will propel those discoveries into clinical application. 

Building on the state-of-the-art technologic capacities and expertise at the Hub, HudsonAlpha Institute for Biotechnology (HudsonAlpha), and other CCTS Partners, the Genomic & Precision Medicine Module catalyzes rigorous genomic research and innovation through consultation with CCTS investigators in the design and implementation of studies, including advice regarding scientific strategy, appropriate use of technologies as well as data analysis. These experts also spearhead cutting-edge assay development, including single-cell genomics and advanced next-generation sequencing of nucleic acid species (e.g., miRNA), techniques that are made available to investigators throughout the Partner Network. 

The Genomic & Precision Medicine Module also supports collaborative research initiatives: 

Alabama Genome Health Initiative 

The Alabama Genomic Health Initiative (AGHI) is one of the nation's first statewide efforts to harness the power of genomic analysis in helping identify those who are at risk for diseases for genomic abnormalities. The AGHI is funded by the State of Alabama as a genomics research program intended to engage a varied group of citizens from all 67 counties of the state. In collaboration with the HudsonAlpha Institute for Biotechnology in Huntsville, UAB Medicine provides genotyping or whole genome sequencing to 10,000 residents of Alabama free of charge. The AGHI is one of the nation’s first statewide efforts to harness the power of genomic analysis to help identify those at risk for certain genetic disorders and to provide a basis for continuing research into genetic contributors to health and disease.

All of Us Research Program

UAB, CCTS Partner Network Hub, launched the Southern Network of the All of Us Research Program on May 6, 2018. Since then, the network has enrolled over 7,000 participants in this historic initiative. All of Us, spearheaded by the National Institutes of Health, is a national program to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. The overall aim nationally is to enroll 1 million or more volunteers and oversample communities that have been underrepresented in biomedical research to make the program the largest resource of its kind. UAB heads the Southern Network, comprising Alabama, Mississippi, and Louisiana, and is led by Bruce R. Korf, MD, PhD, the School of Medicine’s Chief Genomics Officer and CCTS Director of Genomic Medicine, and Cora E. Lewis, MD, Chair of the Department of Epidemiology in the School of Public Health.

South-Seq

South-Seq is a collaborative effort among CCTS Partner Network researchers and clinicians at the HudsonAlpha Institute for Biotechnology, the University of Alabama-Birmingham, and the University of Mississippi Medical Center. Newborns are enrolled that are suspected to have genetic disorders and are being cared for in nurseries in Alabama and Mississippi that are enriched for minority, rural, and underserved patients. Whole-genome sequencing is conducted to identify genetic variants that are contributing to the observed symptoms and which may provide diagnostic and prognostic information. South-Seq is exploring effective and ethical ways to communicate this information to parents. Major goals are to expand the reach of genomic testing to under-served communities in a safe, effective, and equitable manner. Learn more

Undiagnosed Diseases Program

Through our signature Undiagnosed Patient Program (UDP), the CCTS works with partners across the network to evaluate patients with chronic, undiagnosed diseases. By providing access to sophisticated DNA sequencing (whole genome and/or whole exome) and a multidisciplinary medical team, we help find answers for patients with rare or unusual conditions that have defied diagnosis. To date, 81 of the 201 patients evaluated by our UDP have been successfully diagnosed.