The Pacific Northwest Undiagnosed Diseases Network (PNW UDN) is part of Phase 2 of an NIH-funded effort to provide answers for patients and families affected by previously undiagnosed diseases. On 1/23/2020, the first participant enrolled at the PNW UDN clinical site came to UWMC for her UDN evaluation. The participant has a complex medical condition. Her custom evaluation involved multiple specialists, including her UDN Lead Clinician, Fuki Hisama, and her UDN Genetic Counselor, Katie Golden-Grant, in addition to consultations with Drs. Virginia Sybert, James Bennett, Sirisak Chanprasert, and Peter Neligan. The PNW UDN Team developed a diagnostic plan for the patient, including multiple imaging and laboratory tests, and are awaiting the outcomes.
Meanwhile, the team prepares for the site’s second participant to visit UWMC for evaluation in February. Study funding supports evaluation for a total of 15 adult participants at UWMC within the year, in addition to 15 pediatric participants at Seattle Children’s Hospital. We are excited to provide this study as a resource to the Pacific Northwest community, and to collaborate with colleagues across the country in an effort to better understand causes of rare disease.