The Clinical Translational Core, which consists of physician-scientists, laboratory geneticists, and a genetic counselor. The core coordinates variant submissions, reviews phenotype information, collects and reviews medical records (if needed), and facilitates the review of submissions to the center. The core works closely with physicians, genetic counselors, and researchers to formulate the clinical questions requiring precision modeling of the submitted variants. The core prioritizes variants that will have an impact on the genetic counseling, management plans, long-term surveillance, or treatment for individual patients.
As models are developed and tested, the core facilitates the bidirectional translation of findings between the center and the submitting team. This bidirectional translation helps to optimize the models and is necessary to translate the center’s findings back to clinicians. Moreover, the core has expertise in exome, genome and transcriptomics analysis, if needed, to complement the modeling work. A major focus of the core is to work with the submitting team to facilitate the integration of the findings from our center’s models into clinical diagnostics, clinical care, or even clinical trials so that our models have a clear impact on patients.
Core Members
- Lindsay Burrage, M.D., Ph.D. (Lead)
- Jill Mokry, M.S., C.G.C. (Co-Lead)
- Sandesh Nagamani, M.D.
- Jennifer Posey, M.D., Ph.D.
