NSGC 2023 poster: Development and implementation of an automated predictive scoring system utilizing AI to identify patients at possible increased risk for aromatic L-amino acid decarboxylase deficiency from electronic health record data

This poster, presented at NSGC 2023, provides an overview of the utilization of artificial intelligence in analyzing Electronic Health Record (EHR) data to identify patients who may be at increased risk of aromatic L-amino acid decarboxylase (AADC) deficiency, with the aim of decreasing diagnostic delay for patients

  • Discover the criteria for an automated prediction scoring system (APSS) developed for determining people at risk of AADC deficiency
  • Explore how the use of APSS has identified patients for further genetic counseling, and the outcomes of this
  • Understand the importance of the APSS in identifying rare genetic conditions and preventing misdiagnosis and diagnostic delay

This poster was developed and funded by PTC Therapeutics for NSGC 2023.

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MED-ALL-AADC-2300236 | November 2023
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