Cystic fibrosis lung cells were restored to 50 percent of healthy function in work that provides the first evidence that novel therapeutic strategies for human patients can be identified based on yeast studies.
Customized deep-coverage, next-generation sequencing will replace the current state-of-the-art approach.
Open-access videos from the chair of UAB's Department of Genetics focus on the latest treatment approaches for critically ill children in all settings.
Chen, who joins UAB on April 1, has spent more than 20 years advancing the use of bioinformatics in academic, industrial and entrepreneurial efforts.
One major goal is the discovery of new genotype/phenotype correlations — how a particular mutation indicates that some symptoms in patients are unlikely to develop with age.
A 24-year journey leads one family to the UAB Undiagnosed Diseases Program for the answers they sought.
The UAB Undiagnosed Diseases Program, designed to help find answers for rare medical conditions, now has a clinic in Children’s of Alabama.
A multisite study led by UAB has found the first biomarker for the onset of seizures in infants with tuberous sclerosis.
The UAB-HudsonAlpha Center for Genomic Medicine has awarded its first pilot grants to teams of researchers from the two institutions to pursue projects in cancer and cardiac disease.