The Penelope Program leverages U of U Health’s strengths in medical genetics, many subspecialties, and state-of-the-art DNA analysis. Patients take part in a thorough evaluation that includes:
- a complete clinical history review
- medical examinations with detailed phenotyping by multiple specialists
- diagnostic testing including exome or genome sequencing
With this information, our experts collaborate to arrive at an in-depth understanding of each patient’s condition with the goal of finding an underlying cause and improving care.
This medical evaluation is just the beginning. A core mission of the program is an enduring commitment to patients and their families. While not all patients receive a definitive answer immediately, sometimes a diagnosis becomes possible as science advances. With this in mind, patient cases are re-reviewed periodically. Our staff further assist families by connecting them with social, community and support services.
The Penelope program will soon expand to adults, as it has recently become one of a dozen clinical sites in the National Institutes of Health-supported Undiagnosed Diseases Network (UDN). The UDN is a national consortium of medical and research centers working together to improve diagnosis and care of patients with undiagnosed diseases.