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Rare Diseases

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BrainIAC AI Trained on 49,000 MRIs Outperforms Rivals Across Dementia and Cancer Tasks

Self-supervised training on nearly 49,000 MRIs enabled broad, data-efficient gains, with clinical deployment contingent on further validation.

Nature Study Flags ABHD18 Inhibition as a Preclinical Path to Treating Barth Syndrome

Science Advances Study Identifies Pentose Phosphate Pathway Vulnerability in MPNST

Small-Molecule Precursors Restore CoQ10 and Reverse Neurological Decline in HPDL Deficiency

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days