Postdoctoral Researcher - hEDSOmics Study

McGill University • Campbell River, BC

10d • CA$48,000 • Onsite

About The Position

The Canada Excellence Research Chair (CERC) in Genomic Medicine at McGill University is seeking a highly motivated Postdoctoral Researcher to join the hEDSOmics Study, a multi-centre research initiative focused on improving recognition of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD). This position will focus on developing and applying AI-based approaches to identify patients who may be undiagnosed, misdiagnosed, or delayed in diagnosis. The successful candidate will use clinical notes, structured phenotypes, medical terminology, ICD codes, and available omics and health-data resources to detect patients with clinical patterns suggestive of hEDS/HSD. The position is inspired by recent advances in AI-based platforms for rare disease diagnosis, including systems that process free-text clinical descriptions, Human Phenotype Ontology (HPO) terms, and genetic testing results to produce ranked diagnostic hypotheses with traceable reasoning and evidence support.

Requirements

• A PhD in computational biology, bioinformatics, computer science, data science, machine learning or a related field.
• Strong experience working with clinical, biomedical, genetic, electronic health record, or health administrative data.
• Experience with large language models, natural language processing, medical text mining, or clinical AI.
• Strong programming skills in Python and/or R.
• Familiarity with medical terminology, ICD codes, phenotype extraction, or HPO.
• Ability to work with sensitive health data in a secure and privacy-conscious research environment.
• Strong scientific writing skills and ability to contribute to manuscripts, grants, and technical documentation.
• Excellent organizational skills, attention to detail, and ability to work independently and collaboratively.
• Good communication skills in English or French.

Nice To Haves

• LLM-based clinical decision support, rare disease diagnosis, or diagnostic reasoning systems.
• Retrieval-augmented generation, agentic AI workflows, prompt engineering, or model evaluation.
• Clinical phenotype extraction from free text.
• Electronic health records, OMOP, FHIR, ICD-code-based phenotyping, or healthcare data models.
• Chart review, diagnostic validation, or clinician-in-the-loop AI evaluation.
• Python tools for NLP/LLMs, such as Hugging Face, LangChain, LlamaIndex, spaCy, or similar frameworks.

Responsibilities

• Develop and evaluate AI-based pipelines to identify potentially undiagnosed or misdiagnosed hEDS and HSD cases.
• Use clinical text, physician notes, ICD codes, structured symptoms, HPO terms, and available omics data to detect diagnostic patterns.
• Design approaches for extracting and normalizing clinical phenotypes from unstructured medical records from the hEDSOmics Study and international cohort studies.
• Compare AI-generated candidate cases against known diagnoses, clinical criteria, chart review, or expert assessment.
• Support validation studies to assess sensitivity, specificity, positive predictive value, and clinical usefulness of the AI-based case-finding approach.
• Prepare reproducible scripts, analysis documentation, technical reports, figures, manuscripts, and grant materials.
• Collaborate with clinicians, geneticists, data scientists, bioinformaticians, and international consortium partners.

Benefits

• Postdoc Researcher unionized (Category C): $48000 CAD (+benefits)

What This Job Offers

• Job Type: Full-time
• Career Level: Entry Level
• Education Level: Ph.D. or professional degree