Metabolic Disease Specialist

3 days ago


Philadelphia, Pennsylvania, United States Children's Hospital of Philadelphia (CHOP) Full time

Job Summary

Children's Hospital of Philadelphia (CHOP) is seeking a skilled professional to join our team as an Advanced Practice Provider for the Section of Metabolism, Lysosomal Storage Disorders Program. The ideal candidate will have experience in clinical care, research, and teaching, with a focus on lysosomal storage disorders and inborn errors of metabolism.

Responsibilities

  • Prepare for clinic visits by reviewing recent information for new and follow-up patients from CHOP electronic medical records.
  • Obtain updated history from patients, order/coordinate laboratory and imaging studies, and discuss updated plans of care with patients/families in collaboration with attending physicians.
  • Communicate results of biochemical testing and imaging studies, and make changes to the medical plan as needed.
  • Order and manage initiation of, and changes to, enzyme replacement therapies for patients in CHOP Day Medicine, external infusion centers, and home infusion settings.
  • Collaborate with genetics counselors to coordinate genetic and biochemical testing, as well as extended familial testing as appropriate.
  • Manage patient lists in Excel, including demographic data, genotype, treatment, date of last visit, and dates for future tests.
  • Organize local meetings with patient support groups regarding lysosomal storage disorders.
  • Participate in clinical trials, research studies, and patient registries alongside research coordinators and other clinical staff.

Requirements

  • Master's degree in Nursing (or equivalent) required; Doctorate in Nursing preferred.
  • Required licenses and certifications include Registered Nurse and Certified Registered Nurse Practitioner (CRNP) in Pennsylvania, and Registered Nurse and Advanced Practice Nurse (APN) in New Jersey.
  • Specialty certification as a Nurse Practitioner in the area of education/subspecialty is also required.


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