Research Assistant Intern

Position PurposeThe 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 WorkResearch assistance, coordination and participants recruitmentConduct 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 supportAssist 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 RequirementsBachelor’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 QualificationsExperience 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.