Position Summary
The Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center (TNC) is committed to improving the lives of families affected with rare neurodevelopmental disorders (NDDs) by bringing transformative therapies from the bench to the bedside. This is an opportunity to contribute to this mission within the Translational Genomic Medicine (TGM) Core of the TNC.

The focus of the TGM Core is to provide expertise in leading and/or contributing to translational projects centered on rare Mendelian NDDs. Such projects include natural history studies to delineate new and emerging neurodevelopmental syndromes and move toward clinical trial readiness, the evaluation gene-disease pairs for suitability for gene-based therapeutic approaches, and contribute to gene discovery through analysis of NDD cohorts. The TGM, and the TNC broadly, are highly collaborative groups, and this role will provide opportunities for collaboration and interaction with neuroscientists, geneticists, psychologists, patient advocacy groups, bioinformatics experts, and other internal and external collaborators.

We are searching for a candidate with a strong background in variant interpretation, Mendelian human disease genetics, working with individuals with NDDs, and project management. This is an opportunity to work at the interface of genomic medicine, informatics, human disease genetics, neuroscience, and translational medicine and to have an impact on the lives of hundreds of families!

Key Responsibilities

• Working closely with the TGM team to oversee and coordinate daily operations of rare disease research studies. Acts as liaison between principal investigator, study staff, and project collaborators. Contributes to the development of research protocols and/or consent forms as required for review by the Institutional Review Board. Assists in preparing applications for research funding.
• Responds to inquiries related to research eligibility and procedures, diagnostic evaluations, hereditary risks, and genetic testing within scope of research project.
• Identifies, contacts, and screens potential participants/families for eligibility of participation in research studies. Obtains informed consent for study participation from eligible individuals/families.
• Collects and interprets family/medical history, clinical, and genetic findings for research studies, including through direct in-person and virtual interfacing with families.
• Monitors and reviews data/sample collection, computer entry, and related activities to ensure compliance and consistency of application.
• Proficiently analyzes exome and genome data for identification of disease-causing variants, using existing analysis tools through in-house software for cohorts of individuals with rare neurodevelopmental disorders with minimal supervision.
• Performs clinical correlation of gene/variant with patient phenotype, scientific literature review, and variant classification using ACMG criteria.
• Evaluate genes for suitability for gene-based therapies using a standardized framework developed by the RSZ TNC.
• Collaborates in developing written documents and web-based materials for a variety of purposes including journal publications and conference presentations.

Minimum Qualifications
Education:

• Master’s Degree in Genetic Counseling

Licensure/ Certifications:

• MA Genetic Counselor License
• Genetic Counselor certification from the American Board of Genetic Counseling or from the American Board of Medical Genetics and Genomics
• Excellent organizational, analytical, and problem-solving skills in order to collect information/samples from a wide variety of sources.
• Knowledgeable in human genetics and next-generation DNA sequencing.
• Proficient with genomic data, tools and databases.