HudsonAlpha Faculty Investigator Greg Cooper, PhD, and his lab are focused on understanding the genomic basis of human disease, with a particular interest in rare developmental disorders. By combining experimental and computational techniques, the group identifies pathogenic variants that cause disease, determines the mechanisms of action of these genes in disease pathogenesis, and applies the information in the clinic to help provide diagnoses to individuals with rare, undiagnosed diseases.

In addition to gene discovery, the Cooper lab is also involved in the development of methods to aid in the interpretation of genome sequence data. For example, Cooper’s lab along with colleagues at the University of Washington published a manuscript describing a new method for annotating and interpreting human genetic variation called Combined Annotation-Dependent Depletion (CADD). CADD scores are still widely used to evaluate the potential disease relevance of genetic variants in the human genome.

The Cooper lab currently focuses on the following research goals:

  • Identifying and characterizing genes involved in rare developmental disorders 
  • Developing computational tools to further advance genome sequencing analysis 
  • Translating findings to clinical applications and disease diagnosis

Recent News

December 30, 2022
Researchers at the HudsonAlpha Institute for Biotechnology recently published a paper in the American Journal of Human Genetics associating genetic variation in a gene called ZMYM3 with neurodevelopmental disorders. The kicker? Th...
September 21, 2022
Two HudsonAlpha Institute for Biotechnology faculty investigators were awarded a grant from the Muscular Dystrophy Association for their project, “Long-read sequencing to diagnose neuromuscular disorders.” 
December 20, 2021
The last thing the parent of a newborn baby expects to hear is that there is something wrong with their child that has no answer. Unfortunately, for the parents of 1 in 33 newborns, this is the harrowing reality. Many critically i...
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