The Clinical Translational Core, which consists of physician-scientists, laboratory geneticists, and a genetic counselor. The core coordinates variant nominations, reviews phenotype information, collects and reviews medical records (if needed), and facilitates the review of nominations to the center. The core works closely with physicians, genetic counselors, and researchers to formulate the clinical questions requiring precision modeling of the nominated 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 nominating 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 nominating 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.
- 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.