Research Assistant Intern

Position Purpose

The Research Assistant Intern will support ongoing research projects in human genetics, genomics, rare-disease discovery, gene-disease curation, genomic data interpretation, and scientific communication. The role is intended for a highly experienced candidate who can contribute with supervision and consistently produce accurate, well-documented, publication-quality outputs.

Scope of Work

• Research assistance, coordination and participants recruitment
• Conduct structured and comprehensive literature reviews on disease genes, gene function, molecular mechanisms, inheritance, and genotype-phenotype relationships.
• Support recruitment and enrollment activities for genetics and genomics research studies.
• Assist with identification and tracking of eligible participants based on study-specific inclusion and exclusion criteria.
• Coordinate with clinicians, researchers, and collaborating institutions to facilitate participant recruitment and data collection.
• Prepare and maintain recruitment logs, study trackers, and participant status reports.
• Follow up with collaborators, physicians, and participants to obtain required clinical information, consent forms, biospecimens, and study-related documentation.
• Ensure recruitment activities are conducted in accordance with approved protocols, informed consent requirements, and applicable ethical and regulatory guidelines.
• Contribute to manuscripts, abstracts, presentations, reports, supplementary tables, and grant-related materials.
• Participate in research meetings, journal clubs, and project follow-up activities while maintaining clear action logs.

• Genomic and bioinformatics support
• Assist with annotation, prioritization, and classifications of variants identified through exome, genome, transcriptome, or other omics analyses.
• Evaluate genes and variants in the context of phenotype, inheritance, population frequency, predicted consequence, and published evidence.
• Use relevant resources such as OMIM, ClinVar, GenCC, gnomAD, Ensembl, UCSC Genome Browser, GTEx, and other approved resources.
• Perform basic bioinformatics, database queries or data-analysis tasks where required.

Mandatory Job Requirements

• Bachelor's or master's degree in genetics, genomics, bioinformatics, molecular biology, biotechnology, biomedical sciences, medicine, or a closely related discipline.
• Minimum of three year-hands-on research experience in human genetics and genomics, including rare or Mendelian disease research.
• Previous work in a clinical genomics laboratory, accredited diagnostic environment, or rare-disease research program.
• Authorship on peer-reviewed publications in genetics, genomics, molecular medicine, or a directly relevant field.
• Practical experience using major human genetics and genomics databases, including OMIM, ClinVar, gnomAD, Ensembl, ClinGen, HGMD and UCSC Genome Browser.
• Ability to independently conduct systematic literature searches, critically appraise primary research, and prepare referenced scientific summaries in English.
• Experience supporting participant recruitment, enrollment, and follow-up activities in clinical or genomics research studies.
• Familiarity with informed consent processes, research ethics, and Institutional Review Board (IRB) requirements.
• Experience coordinating with clinicians, patients, families, and external collaborators for collection of clinical data, biospecimens, or study documentation.
• Strong organizational skills with the ability to manage multiple recruitment workflows, trackers, and stakeholder communications.
• Advanced written and spoken English, with demonstrated experience preparing manuscripts, scientific reports, or conference materials.
• Availability for the full internship duration and ability to comply with organizational confidentiality, research ethics, information security, and genomic-data governance requirements.

Preferred Qualifications

• Experience in genomic data analysis and variant classification using ACMG/AMP criteria, supported by prior projects, reports, publications, or formal training.
• Experience with segregation analysis, phenotype-driven prioritization, and Human Phenotype Ontology (HPO) terminology extraction.
• Experience preparing evidence tables, supplementary datasets, or responses to peer review for scientific manuscripts.