The Yu Lab at Boston Children’s Hospital focuses on developing innovative therapies for rare genetic diseases, with a particular emphasis on antisense oligonucleotides (AS - Os). Our team works at the intersection of research and patient care, collaborating closely with families and patient advocacy groups to advance personalized medicine. The Research Assistant will support the lab’s genetic counselor and broader research team in both patient-facing and research-related activities. This position will include overseeing the intake process for new referrals to the lab and data management across several research studies. The Research Assistant will also play a key role in a research partnership utilizing an AI-powered tool for therapeutic amenability assessments. Experience with bioinformatics or computer science is a plus. This position offers a unique opportunity to gain hands-on experience in rare disease research, patient engagement, and genetic data management. Key Responsibilities. Support the assessment of new cases for enrollment through bioinformatic analysis, literature review, and use of genomic tools. Assist the genetic counselor with organizing and managing incoming case inquiries and historic genetic data through the creation of a harmonized database and case reports. Facilitate the informed consent process and the collection of medical history data and biological samples from enrolled patients. Leverage existing data sets to advance therapeutic assessment strategies through a collaborative research program with an AI-driven platform. Engage in bioinformatics-related tasks depending on skill set and interest. Experience with Python, R, or other relevant languages is a plus. Minimum Qualifications. Education: Bachelor’s degree in genetics, neuroscience, bioinformatics, biology, psychology, or a related field. Experience:Interest in genetic counseling, rare disease research, and/or patient advocacy. Strong organizational skills and attention to detail, with the ability to work independently. Excellent written and verbal communication skills. Ability to work collaboratively within a multidisciplinary team. Familiarity with genetics/bioinformatics tools and/or antisense oligonucleotides preferred.