Institution: University of California, San Diego (UCSD)

Principal Investigator: Joseph Gleeson, M.D.

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Project: ​Blood-Based Biomarkers for PACS1 Syndrome

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The Gleeson Lab at UC San Diego is working to identify blood-based biomarkers that could help monitor PACS1 syndrome and evaluate responses to future treatments. Using two advanced proteomics technologies, researchers analyzed thousands of proteins in blood samples from individuals with PACS1 syndrome and unaffected family members. An initial study identified nine promising protein candidates that showed consistent differences across both technologies. The research team is now expanding the study to include additional families to validate these findings and determine whether these proteins could serve as reliable biomarkers for PACS1 syndrome.

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