Reference #: 1009825
SHIFT:Day (United States of America)A Brief OverviewThe Spinner 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) and 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. 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.Assume responsibility for an on-going, innovative research project as a Postdoctoral Fellow at CHOP. Our postdoc experience will broaden your skillset, scientific background, and research capabilities.CHOP's Commitment to Diversity, Equity, and Inclusion
CHOP is committed to building an inclusive culture where employees feel a sense of belonging, connection, and community within their workplace. We are a team dedicated to fostering an environment that allows for all to be their authentic selves. We are focused on attracting, cultivating, and retaining diverse talent who can help us deliver on our mission to be a world leader in the advancement of healthcare for children.We strongly encourage all candidates of diverse backgrounds and lived experiences to apply.ResponsibilitiesParticipate in project planning, recording, and evaluation of data.Conduct independent scholarly research, developing new methods and protocols under the guidance of a entor (principal investigator).Acquire technical, lab management, and grant writing skills.Participate in seminars, lectures, poster sessions, national presentations, and professional workshops.Supervise junior lab members.Assist with other research projects as needed.EducationRequired:DoctorateChildren's Hospital of Philadelphia is an equal opportunity employer. We do not discriminate on the basis of race, color, gender, gender identity, sexual orientation, age, religion, national or ethnic origin, disability or protected veteran status.