Decades-Long Medical Mystery Solved: New Rare Genetic Disorder Identified

Brain Scans of Patient With Genetic Disease Caused by CCT3 VariantsResearchers at Washington University have discovered a new genetic disorder affecting protein folding, offering potential new treatment avenues for rare brain conditions. When most people feeling unwell visit a doctor, they expect a clear diagnosis and treatment plan. However, for some 30 million Americans with rare diseases, their symptoms don’t match well-known disease patterns, and […]

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