Genetic Counselor I - Chromatin Disorders Translational Program

We are seeking a Genetic Counselor to lead the clinical and translational operations of the Roya Kabuki Syndrome Program. This is a wide‐ranging, non‑traditional role that will include project management and data curation for research studies, coordination of clinical operations, and the provision of genetic counseling to individuals and their families. The candidate will also play a key role in the operations of the EpiChroma Clinic. Both the Kabuki Program and EpiChroma clinic are specialized clinics for people with rare genetic disorders caused by disruptions in epigenetic and chromatin regulation for which no specific therapies are available. These clinics serve patients from across the country, offering counseling, care, and access to research studies conducted at Boston Children’s Hospital and international collaborators. Key Responsibilities Serve as Registry Curation Lead for Kabuki INSIGHTS, overseeing the development and management of a global patient registry run by the Kabuki Syndrome Foundation supporting natural history studies and clinical trial readiness. Coordinate operations for the Roya Kabuki Program and EpiChroma Clinics, including patient care coordination, research enrollment, and project management. Provide genetic counseling and clinical care for patients with Kabuki Syndrome and related disorders while supporting advanced diagnostic evaluation and rare disease research. Clinical Genetic Counselor Provides genetic counseling, risk assessment, and patient education. Interprets medical, developmental, and family histories to support diagnostic evaluations. Develops educational initiatives and mentors genetic counseling trainees. Clinical and Translational Operations Coordinator Coordinates patient scheduling, research participation, and study‑related communications. Oversees research operations, participant recruitment, consent, and sample collection. Supports protocol development, regulatory submissions, and research documentation. Develops materials for grants, publications, presentations, and educational initiatives. Curates and maintains genetic data to support research quality and integrity. Contributes to data analysis, reports, presentations, and scientific publications. Minimum Qualifications Master's Degree in Genetic Counseling Experience

1. 2 years of experience as a practicing Genetic Counselor preferred
2. 3 years of experience in clinical or translational research preferred

Excellent organizational and project management skills Outstanding communicator and care provider Ability to learn quickly and navigate complex systems in hospital and research settings Specific interest in pediatric rare disease and understanding of basic biology underlying these diseases Strong clinical writing skills and a record of co‑authoring scientific publications Licensure / Certifications Current Massachusetts license as a Genetic Counselor Current Genetic Counselor certification from the American Board of Genetic Counseling or from the American Board of Medical Genetics and Genomics The posted pay range reflects Boston Children’s reasonable and good‑faith expectations for this position at the time of posting. Any base pay offer provided depends on skills, experience, education, certifications, and other job‑related factors. Base pay is one part of a comprehensive benefits package that includes flexible schedules, affordable health, vision and dental insurance, child care and student loan subsidies, generous levels of time off, 403(b) retirement savings plan, pension, tuition and certain license and certification reimbursement, cell phone plan discounts, and discounted rates on T‑passes. Experience the benefits of passion and teamwork. #J-18808-Ljbffr Boston Children's Hospital