Postdoctoral Researcher - hEDS*Omics Study

McGill Faculty of Medicine and Health Sciences; Ottawa; On-site; CAD 43,000 - 53,000; Full time

Benefits offered by this job

Benefits

Mitacs funding

Job summary

The Canada Excellence Research Chair (CERC) in Genomic Medicine at McGill University seeks a Postdoctoral Researcher to advance AI-based detection of undiagnosed or misdiagnosed hEDS/HSD cases. You will work with clinical notes, ICD codes, HPO terms, and omics data to develop robust diagnostic pipelines.

Applicants should have a PhD in a related field, strong Python/R skills, and experience with clinical data and NLP. The role features international collaboration and funding through Mitacs.

Qualifications

• PhD in a relevant field required.
• Experience with clinical/biomedical data preferred.
• Experience with NLP/AI in healthcare desirable.
• Strong programming in Python and/or R.
• Familiarity with medical terminology, ICD codes, HPO.
• Excellent scientific writing and manuscript/grant support skills.
• Strong organization and ability to work independently and collaboratively.

Responsibilities

• Develop and evaluate AI-based pipelines to identify undiagnosed or misdiagnosed hEDS/HSD cases.
• Use clinical text, notes, ICD codes, structured symptoms, HPO terms, and omics data.
• Design phenotypes extraction from unstructured records for the study.

Skills

Python/R programming

Clinical AI & NLP

Medical terminology & ICD codes

HPO/phenotype extraction

Strong writing & collaboration

English or French communication

Education

PhD in computational biology / bioinformatics / CS / data science / ML

Tools

Hugging Face

LangChain

LlamaIndex

spaCy

Job description

AI-Assisted Identification of Undiagnosed and Misdiagnosed hEDS\*Omics Cases Position summary The Canada Excellence Research Chair (CERC) in Genomic Medicine at McGill University is seeking a highly motivated Postdoctoral Researcher to join the hEDS\*Omics 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.

Main 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 hEDS\*Omics 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.

Required qualifications

• 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.

Preferred qualifications

• Experience with any of the following would be considered an asset:
• 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.

The position will be funded by the Canada Excellence Research Chair (CERC) in Genomic Medicine and Mitacs.

Annual salary Postdoc Researcher unionized (Category C): $48000 CAD (+benefits) Note that this position is conditional upon approval of Mitacs funding. If the funding is not approved, the appointment may not proceed.

Before applying, please note that to work at McGill University, you must be both authorized to work in Canada and willing to work in the province of Quebec at the campus where the position is based / located.

McGill University is an English-language university where most teaching and research activities are conducted in the English language, thereby requiring English communication both verbally and in writing.

Annual Salary: $48,000.00

Hours per Week: 35 (Full time)

Location: Penfield 740

Supervisor: Professor

Position Start Date: 2026-09-01

Position End Date: 2027-08-31

Deadline to Apply: McGill University hires on the basis of merit and is strongly committed to equity and diversity within its community. We welcome applications from racialized persons/visible minorities, women, Indigenous persons, persons with disabilities, ethnic minorities, and persons of minority sexual orientations and gender identities, as well as from all qualified candidates with the skills and knowledge to productively engage with diverse communities.

McGill implements an employment equity program and encourages members of designated groups to self-identify.

Persons with disabilities who anticipate needing accommodations for any part of the application process may contact, in confidence, [e-mail].

Located in one of the world’s great multicultural and multilingual cities, McGill University is internationally recognized for its excellence as a leading institution of higher education and research. For nearly 200 years, through the work of dedicated people, McGill has been breaking ground in diverse fields and contributing solutions to some of the world’s most significant issues. McGillians are proud to be part of a community that is both global and local, inspired by challenge and committed to shaping a better future. McGill received a Platinum STARS rating in sustainability, is among Canada’s greenest employers, and is a top Montreal Employer.