RENEW system utilizes machine learning for rare disease diagnosis

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Rare Disease News

Technology,Genetic,Genetics

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.

Mayo ClinicJun 25 2024

In a new study published in Human Genetics, researchers describe how RENEW led to a probable diagnosis for 63 patients out of 1,066 undiagnosed cases. Considering that the majority of patients with rare diseases who undergo genomic sequencing remain without a diagnosis, this is no small accomplishment. Each successful diagnosis facilitated by RENEW signifies a profound breakthrough in providing answers and hope to people navigating the complexities of rare diseases.

 

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