The mission of the Precision Medicine Clinic (PMC) is to partner with patients and families with suspected or diagnosed rare genetic disorders throughout their rare disease journey, beginning before a diagnosis and bridging the gap between diagnosis and treatment.
The PMC is a partnership of physicians and scientists who help families navigate the diagnostic and therapeutic odyssey of rare genetic disorders.
The PMC Clinic will:
- Use deep phenotyping and cutting-edge diagnostics, including whole-genome sequencing, to establish diagnoses for children with rare disorders.
- Work with families to develop individualized treatment plans.
- Establish a team, “Partners in Cures,” to leverage community expertise and philanthropic resources by building collaborations and accelerating the development of effective treatments for rare diseases.
PMC program elements include Precision Diagnosis and Precision Therapeutics.