Under the direction/guidance of a mentor (principal investigator), assumes responsibility for a specific, on-going research project. The experience will serve to extend, refine and enhance skills necessary for professional and career development, and will enable the individual to broaden his/her scientific background by acquiring new research capabilities. It is expected that this individual will conduct independent scholarly research, and will contribute directly to the overall research goals of the project and the research group. This role will be expected to participate in project planning, recording and interpretation/evaluation of data, and communication of results. This position will also be expected to acquire technical, lab management, and manuscript/grant writing skills; and participate in seminars, lectures, poster sessions and presentations at national meetings. This role also may be required to supervise junior lab members, develop new methods and protocols for research, and assist with the development of other research projects in the lab. The Gilbert Lab is a translational human genetics laboratory in the Department of Pathology that is focused on improving genomic diagnostics through studying the functional effects of abnormal proteins. Specifically, we study a multi-systemic, autosomal dominant disease, Alagille syndrome, that is caused by mutations in one of two genes, Jagged1 (JAG1) or NOTCH2. Our research investigates how variants in these genes cause disease (pathomechanism). We are particularly interested in designing high-throughput functional assays (multiplexed assays of variant effects-MAVEs) to resolve the hundreds of variants of uncertain significance in these genes with plans to expand to additional rare disease genes outside of Alagille syndrome. We aim to expand these assays beyond Alagille syndrome to other disease genes that are important in pediatrics. We are also developing in vitro and iPSC systems to understand and resolve differences in the functional consequence of variants in both JAG1 and NOTCH2, including understanding cellular trafficking, glycosylation, and signaling. We have a long-standing, IRB-approved research study providing us with a repository of thousands of patient samples, and have begun new projects to understand tissue-specific and spatial expression of these genes in patient samples, in addition to follow-up studies to identify genetic modifiers of disease severity. We also use cutting edge sequencing technologies (genome sequencing, long-read sequencing, RNA sequencing) to identify novel variants that are missed through standard of care testing and interact consistently with the clinical diagnostic laboratory in the Division of Genomic Diagnostics). The successful applicant will become part of a highly interactive and collaborative team. The research lab sits within the Division of Genomic Diagnostics in the Department of Pathology and Laboratory Medicine and interacts routinely with the clinical team, resulting in a highly translational environment. Applicants must have a Doctoral degree in a related discipline with good skills in genetics, molecular biology, biochemistry, and cell biology, and with a strong motivation to learn new techniques and research topics. The individual will be expected to conduct independent scholarly research and contribute to the overall research goals of the project and the research group. The postdoc experience will serve to extend, refine, and enhance skills necessary for professional and career development, and will enable the individual to broaden his/her scientific background by acquiring new research capabilities. Postdocs will be expected to participate in project planning, recording and interpretation/evaluation of data, and communication of results. Postdocs will also be expected to acquire technical, lab management, manuscript/grant writing skills; and participate in seminars, lectures, poster sessions and presentations at national meetings. Postdoctoral fellows are also required to supervise junior lab members, develop new methods and protocols for research, and assist with the development of other research projects in the lab.
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Job Type
Full-time
Career Level
Entry Level
Education Level
Ph.D. or professional degree
Number of Employees
5,001-10,000 employees