Nurse Practitioner, Outpatient Human Genetics

Job description

Division: - Human Genetics Description of APP role: As a Nurse Practitioner with the Rare Disease Lysosomal Storage Disease team, you will play a critical role in the longitudinal care of medically complex patients with lysosomal storage diseases. This position focuses on providing comprehensive follow-up care to patients across the lifespan from newborn to geriatric patients. You will work within a collaborative, multidisciplinary team dedicated to optimizing developmental outcomes, growth, and family support. Role responsibilities: - Conduct comprehensive assessments with a focus on growth and developmental progress and symptoms related to their disease process - Coordinate care, including follow-up on labs, diagnostics, referral, and specialist recommendations - Manage in-basket responsibilities (patient messages, medication refills, care coordination) - Assist with clinical trial for investigational medications for lysosomal storage diseases - Conduct periodic assessments - Be available for study team questions and concerns - Infusion coverage - Manage enzyme replacement infusion therapy plans; clarify and adjust orders as needed - Respond for infusion reactions/ concerns in th...