Research Assistant Intern – Human Genetics & Genomics

About the role

The Research Assistant Intern will support ongoing projects in human genetics, genomics, rare‑disease discovery, gene‑disease curation, and scientific communication. The role is designed for a highly experienced candidate who can work under supervision and deliver accurate, publication‑quality outputs.

Key responsibilities

• Conduct structured literature reviews on disease genes, molecular mechanisms, inheritance patterns and genotype‑phenotype relationships.
• Support recruitment and enrollment activities for genetics and genomics studies, maintain recruitment logs, study trackers and ensure compliance with ethical and regulatory guidelines.
• Assist with variant annotation, prioritization and classification using resources such as OMIM, ClinVar, gnomAD, Ensembl and the UCSC Genome Browser.
• Contribute to manuscripts, abstracts, presentations, grant‑related materials and participate in research meetings, journal clubs and project follow‑up activities.

Required profile

• Bachelor’s or master’s degree in genetics, genomics, bioinformatics, molecular biology or a related discipline.
• Minimum three years of hands‑on research experience in human genetics and genomics, including rare or Mendelian disease projects.
• Authorship on peer‑reviewed publications and experience in a clinical genomics or accredited diagnostic laboratory.
• Proven ability to conduct systematic literature searches, prepare scientific summaries in English and manage participant recruitment workflows.

Required skills

• Proficiency with major genetics databases: OMIM, ClinVar, gnomAD, Ensembl, ClinGen, HGMD and UCSC Genome Browser.
• Basic bioinformatics and data‑analysis tasks, including variant annotation and genotype‑phenotype interpretation.
• Familiarity with informed consent processes, IRB requirements and research ethics.
• Strong organizational skills for managing multiple recruitment trackers and stakeholder communications.