New technology helps solve the unsolvable in rare disease diagnoses

At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers. This commitment has led researchers at the Mayo Clinic Center for Individualized Medicine to develop a semi-automated system, known as RENEW, to rapidly reanalyze unresolved rare disease cases. In a new study published in Human Genetics, researchers describe how RENEW (REanalysis of NEgative Whole-exome/genome data) led to a probable diagnosis for 63 patients out of 1,066 undiagnosed cases. Read More

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