Harvard Catalyst Profiles

Project 1: to create trial-readiness geared patient databases for specific genetic conditions (SCN1A, GRIN, DYNC1H1, Batten disease, KCNT1, etc). The student's role would be to determine the content of the database, review records to complete the database with the significant, clinical information needed. The additional expectation is to come up with a research question that can be answered through the database (e.g.: what are the determinants of/barriers to early genetic testing in a particular disorder? Are the treatments used in clinic compliant with the current guidelines? Project 2: Retrospective record and registry review for an epilepsy genetics condition, PCDH19, to assess approach to rescue seizure treatment, with the goal of proposing preliminary recommendations, then take them to the larger PCDH19 community to support guideline creation. The student will review the records and registry data, analyzing the results, proposing treatment recommendations based on literature and data review under supervision of mentor. Project 3: Retrospective record review on the practice of genetic testing in patients being considered for epilepsy surgery, as well as an outcome analysis. This will consist of reviewing past records, surgical discussions from a database, analyzing findings about the practice and the change over the past 5 years, and report on the surgical outcomes.