Research Associate | Temporary ; FTE | CHEO Research Institute

Position: Research Associate | Temporary Full Time (1.0 FTE) | CHEO Research Institute
* Lead and contribute to research projects in rare inherited neuromuscular disease genetics, including gene discovery, variant interpretation, and genotype–phenotype correlation studies
* Integrate genetic data with clinical, phenotypic, and registry data using standardized vocabularies and ontologies (e.g. HPO, ORDO, MAxO)
* Interpret and evaluate genetic variants using current best practices, including population databases, in silico prediction tools, and literature evidence
* Design, implement, and oversee bioinformatic and analytical approaches for the analysis of genomic, transcriptomic, and other omics datasets
* Contribute to the development of FAIR-compliant data resources and support responsible data sharing in national and international research platforms
* Collaborate closely with clinicians, laboratory scientists, and external partners to support translational research and clinical interpretation of findings
* Lead or contribute to the preparation of grant applications to national and international funding bodies (e.g. CIHR, EU programmes)
* Prepare manuscripts, reports, and presentations for scientific publication and dissemination at conferences and workshops
* Represent the research team at national and international conferences and academic meetings on neuromuscular disease
* Supervise and mentor trainees, students, and postdoctoral fellows involved in genetics and bioinformatics projects
* Contribute to the strategic planning and coordination of collaborative research initiatives and consortia in neuromuscular disease research
* Perform other duties as assigned or directed to meet the goals and objectives of the Lochmüller Research Group
* PhD in genetics, genomics, bioinformatics, or a closely related discipline (Essential)
* Minimum 3 years of postdoctoral experience in neuromuscular disease research, particularly in the analysis and interpretation of genomic data and phenotypic data integration (Essential)
* Proven ability to design research projects, develop scientific hypotheses, and analyze data (Essential)
* Strong expertise in bioinformatic analysis of next-generation sequencing data (e.g. WES/WGS, RNA-seq) (Essential)
* Experience working with phenotypic and clinical data, including the use of standardized ontologies (Essential)
* Knowledge of FAIR data principles and experience contributing to or managing shared research data resources or platforms (Essential)
* Familiarity with variant interpretation frameworks and relevant databases (e.g. population frequency databases, disease variant repositories, in silico variant interpretation tools) (Essential)
* Strong scientific writing skills, with experience preparing manuscripts for submission to high-impact journals (Essential)
* Strong grant-writing skills, with experience submitting applications to national (CIHR, charitable foundations) and international (EU, charitable foundations) funding bodies (Essential)
* Ability to work independently with minimal supervision and collaboratively in a multidisciplinary and international research environment (Essential)
* Excellent computer skills, including MS Office, Adobe, and SharePoint (Essential)
* Outstanding organizational, accountability and time-management skills, with the ability to manage multiple research activities simultaneously (Preferred)
* Demonstrated collegiality, professionalism and team skills (Preferred)
* Excellent written and verbal communication skills (Preferred)
* Bilingualism (English/French) is an asset (Preferred)
* Research Lab setting; exposure to students and technical support staff.
* Able to be flexible with working hours in order to meet deadlines and communicate with collaborators in different timezones.
* Able to work in a dynamic and often hectic environment and be able to multi-task.
* Able to work under tight deadlines.
* Able to share information in an effective and collaborative manner.
* Able to be creative, challenge, and demonstrate initiative to generate improvements.
* Able to work on site full time.
* Able to travel internationally.
* Diriger des projets de recherche sur la génétique des maladies neuromusculaires héréditaires rares, notamment la découverte de…