AI Article Synopsis

  • The Undiagnosed Disease Network (UDN) is a collaborative effort funded by the NIH, focused on diagnosing rare diseases through 12 clinical sites, including Vanderbilt University Medical Center (VUMC).
  • At VUMC, experts in fields like bioinformatics, structural biology, and genetics worked together to identify a rare genetic variant in a 5-year-old girl with various neurological issues.
  • The team diagnosed her with Primary Aldosteronism, Seizures, and Neurologic abnormalities (PASNA), showcasing the value of a multidisciplinary approach in addressing complex, rare diseases.

Article Abstract

The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National Institutes of Health and includes 12 different clinical sites (About Us, 2022). Here we highlight the success of collaborative efforts within the UDN Clinical Site at Vanderbilt University Medical Center (VUMC) in utilizing a cohort of experts in bioinformatics, structural biology, and genetics specialists in diagnosing rare disease. Our UDN team identified a de novo mosaic CACNA1D variant c.2299T>C in a 5-year-old female with a history of global developmental delay, dystonia, dyskinesis, and seizures. Using a collaborative multidisciplinary approach, our VUMC UDN team diagnosed the participant with Primary Aldosteronism, Seizures, and Neurologic abnormalities (PASNA) OMIM: 615474 due to a rare mosaic CACNA1D variant (O'Neill, 2013). Interestingly, this patient was mosaic, a phenotypic trait previously unreported in PASNA cases. This report highlights the importance of a multidisciplinary approach in diagnosing rare disease.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11161305PMC
http://dx.doi.org/10.1002/ajmg.a.63597DOI Listing

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