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Genetic Counselor I - Chromatin Disorders Translational Program

Boston Children's Hospital

Boston, MA

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JOB DETAILS
SKILLS
Biology, Clinical Medicine, Clinical Trial, Data Analysis, Disease, Documentation, Genetic Diseases, Genetics, Genomics, Hospital, Medical Genetics, Mentoring, Operations Research, Organizational Skills, Patient Assessment, Patient Care, Patient Education, Pediatrics, Project/Program Management, Publications, Regulations, Regulatory Submissions, Research Skills, Risk Analysis, Scientific Publications, Specimen Collection, Training/Teaching, Translational Research
LOCATION
Boston, MA
POSTED
8 days ago
Position Summary
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 would include project management and data curation for research studies and coordination of clinical operations, in addition to providing genetic counseling to individuals and their families. The candidate would also serve 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 disruption in Epigenetic and Chromatin regulation for which there are no specific therapies available. These clinics serve patients from across the country with counseling and care, and provide access to research studies being 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
Education: 
  • 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
  • Be able to learn quickly and navigate complex systems in the hospital and research settings
  • Have a specific interest in pediatric rare disease and understanding of basic biology underlying these diseases
  • Possess strong clinical writing skills and have 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

About the Company

B

Boston Children's Hospital

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