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 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 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 Medicine Module also supports collaborative research initiatives:
Alabama Genome Health Initiative
The Alabama Genome Health Initiative (AGHI) is a state-funded effort, launched in 2016, to enroll several thousand participants from across the state to: sequence large numbers of samples, return medically actionable genomic data, and create a major resource to enable cutting-edge clinical and translational research. Planning retreats to date have focused on: 1) genome sequencing/analysis; 2) community, participant, and physician engagement; 3) bioethics; 4) database and biobanking.
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.