An interdisciplinary team including faculty from the Center for Statistical Genetics and Genomics (StatGen) has been awarded funding from the Duke School of Medicine (SOM) to sponsor a colloquium series titled Identification of non-coding pathogenic variants for rare disease. This team is also comprised of faculty from the Center for Genomics and Computational Biology (GCB) and the Department of Pediatrics, Division of Medical Genetics.
There is strong evidence that an under-appreciated fraction of rare disease cases are caused by genetic mutations that alter gene regulation instead of gene function. Identifying regulatory mutations causing rare disease is exceptionally challenging, but Duke University is ideally positioned to do so. Over the past year, this team has focused on this problem and have identified specific case studies where near term impact is expected, along with a demonstration of proof of concept for larger studies.
The colloquium series will serve to expand the collaborative community and increase awareness at Duke. Additionally, the meetings will provide extended, dedicated, and structured time together to advance ongoing research, identify new directions and reinforce efforts to seek external funding. The first meeting of the series is scheduled for Friday, November 9th.
The SOM interdisciplinary colloquia initiative supports efforts to unite faculty members from basic, translational, clinical and data science research areas around a shared biomedical question.
For more information about the Identification of non-coding pathogenic variants for rare disease colloquium series, please visit the colloquium page.