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How AI is Helping Identify Rare Diseases: Joost Groen’s Research on Early Detection of GSD Ia

Joost Groen, a clinical biochemist at UMCG, has developed a machine learning model to identify Glycogen Storage Disease Ia (GSD Ia) early, improving diagnosis speed and accuracy. His research, published in the *Orphanet Journal of Rare Diseases*, shows AI’s potential in detecting rare diseases. Groen’s model uses biochemical patterns to spot GSD Ia, aiming to refine it further for neonatal heel prick screening. His work highlights AI’s promise in medicine, aligning with exquAIro’s mission to advance medical breakthroughs with AI.