Conducts study start-up activities and prepares and maintains all regulatory documents required by sponsor and/or regulatory agencies • Prepares protocols, informed consent documents, modifications, renewals, and other necessary documents for review by the IRB and/or sponsor • Coordinates study activities with other research departments to effectively implement clinical research projects • This includes: • Obtaining required letters of support and/or approvals as needed (i.e., IBC, SRC, etc.) • Monitoring protocols are followed • Obtains high level of knowledge regarding specific condition(s) which is(are) the subject of the research study to provide education on the natural history, management, genetics, and inheritance of genetic disorders with language tailored to study participants and families • Identifies, verifies, and recruits eligible study participants and conducts the informed consent/assent process • Communicating with appropriate clinical team members to identify eligible patients • Attending meetings and patient gatherings to spread awareness of research being conducted at our organization • Performs study participant research visits • Scheduling necessary study assessments and procedures per study protocol • Preparing laboratory/specimen collection kits and ensuring samples are processed and sent out appropriately • Communicating with research partners such as CRU, research pharmacy, research laboratory, and other applicable departments regarding study visit • Communicating with study participants regarding their study visit so participants understand scheduled study procedures • Facilitating travel and reimbursement for study participants if applicable • Conducts site qualification, study initiation, monitoring and/or close-out visits • Communicates with study sponsor and study vendors and responds to queries/requests promptly • Records, submits, and maintains study data and documents as outlined in study protocols • Abstracting data from medical records and enters medical information/data onto protocol specific case report forms, study flow sheets, and other required study forms • Preparing abstracted/coded data for processing/analysis • Recording data on source documents and CRF's and/or electronic web-based systems • Creating and/or updating case report forms and/or source document templates • Maintaining all study documents such as regulatory binders, source documents, correspondence, etc. • Communicates test results to patients/families, referring physicians, primary care physicians and other appropriate clinicians • Coordinates and communicate all aspects of post evaluation patient follow up • Writes proper documentation of patient visit and visit letters • Generate other letters for patient case as needed • Helps coordinate general and specialty genetics clinics as assigned • Serves as the liaison between specialty services involved in the care of children with genetic disorders and assist with case management of medically complex patients • Coordinates genetic testing of patient and appropriate family members, including obtaining insurance authorization • Provides education on the natural history, management, genetics, and inheritance of genetic disorders with language tailored to patients and families • Performs psychosocial assessment and provides appropriate support and resources to patients and families in the coping of their genetic diagnosis or medical condition • Participates in inpatient consultations • Participates in genetic counseling on-call rotation and performs duties such as fielding telephone calls from clinicians and patients requesting genetics information, assessing referrals to Genetics and determining appropriate scheduling of patient, triaging urgent patient calls, etc.