Pacific Northwest Undiagnosed Diseases Network is accepting applications
The Pacific Northwest Undiagnosed Diseases Network (PNW UDN) is currently open for applications for adult patients with medical conditions that have thus far eluded diagnosis. This National Institutes of Health (NIH)–funded study started in 2015 and has grown to a total of 12 clinical sites.
The PNW clinical site, led by principal investigators Dr. Katrina Dipple and Dr. Gail Jarvik, professor and head, Division of Medical Genetics, is a collaborative effort between dozens of clinicians and researchers at Seattle Children’s and the University of Washington Medical Center.
Who can join the study?
This study might be a good fit for adults and children with undiagnosed diseases who:
- Are at least 2 months of age and undiagnosed despite evaluation
- Have already undergone extensive testing
- Have a referral letter from a medical provider
This is an international study. Participants do not have to live in Seattle to apply.
Applications to the PNW UDN can be submitted online or by mail and may be initiated by a patient or provider. Each application must include a provider’s referral letter with a summary of the patient’s medical history and prior diagnostic workup. The referring provider receives ongoing updates through application review and participation.
What does the study entail?
Enrolled study participants undergo extensive clinical and research-based testing, often including genomic-scale sequencing, metabolomics, and transcriptome analysis, in addition to a one- to five-day evaluation at UW Medical Center and with local specialists with the goal of reaching a diagnosis.
Since opening in 2015, the national Undiagnosed Disease Network has solved more than 200 mysterious cases.
“Some of these patients had previously gone to about five or six different medical centers and had a lot of testing and imaging done without any conclusive results. When they finally get a diagnosis, it is so important to them,” Jarvik said.
The PNW clinical site collaborates with the broader UDN network of experts and researchers, employing a team science approach for each case. There are currently no costs to the participant or family for these investigations.