The Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) is committed to improving the lives of families affected with rare neurodevelopmental disorders 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) Unit of the RSZ TNC.
The focus of the TGM Unit is to provide expertise in leading and /or contributing to translational projects centered on rare Mendelian neurodevelopmental disorders. Such projects range from gene discovery with exome / genome analysis of NDD cohorts, delineation of the genotypic-phenotypic spectrum of new and emerging neurodevelopmental syndromes and the evaluation gene-disease pairs for suitability for gene-based therapeutic approaches. In this role, there will be the opportunity for collaboration and interaction with neuroscientists, clinicians, bioinformatics experts, industry partners and patient advocacy groups.
We are searching for a candidate with a strong background in analysis of exome /genome sequencing data, Mendelian human disease genetics and project management. to participate in translational research with a focus on rare monogenic neurodevelopmental disorders .
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!
Works closely with PI in the selection of bioinformatics pipeline and the analysis of genomic data.
Proficiently analyze 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. Identify rare variants of interest and correlate findings with patient phenotype. Perform scientific literature review, variant classification using ACMG criteria and case presentations to understand clinical relevance of candidate variants.
Manage interactions with research and clinical collaborators.
Project management of genotype-phenotype studies.
Evaluate genes for suitability for gene-based therapies using a standardized framework developed by the RSZ TNC.
Contribution to scientific papers
STEM field Bachelor's degree with 2-4 years experience in human genomics analysis. Graduate degree, particularly in Genetic Counselling, preferred.
Competence in rare Mendelian disease analysis and variant interpretation
Knowledgeable in human genetics and next-generation DNA sequencing
Proficient with genomic data, tools and databases
Project management experience preferred
Boston Children's Hospital offers competitive compensation and unmatched benefits.
Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Children's offers a complete range of health care services for children from birth through 21 years of age.