UDN Grand Rounds

UDN investigators from the Stanford Center for Undiagnosed Diseases will present three cases. The first case involves the characterization of a novel UNC93B1-related disorder involving early-onset autoimmune disease. The second case demonstrates the use of a multi-omics approach to identify a non-genetic candidate diagnosis in an individual with renal magnesium wasting, neutropenia, and post-exertional hypoglycemia. The third case highlights the use of case matching to characterize clinical features of FAM177A1-related neurodevelopmental disorder.

The Undiagnosed Diseases Network (UDN) is a consortium of sites across the US aimed at diagnosing patients through a personalized, multidisciplinary approach. Each UDN Grand Rounds session typically features a description of the clinical phenotype and diagnostic evaluation of one or more UDN patients. All are welcome to attend, ask questions, and offer insights on cases. One hour of CME credit is available at no charge for attendees.

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