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Mayo Clinic Boosts Patient Care with Genomic Testing for Rare Diseases

Mayo Clinic uses genomic testing broadly for

A Mayo Clinic study published in Journal of Translational Medicine evaluated the use of genomic testing broadly for rare diseases.

Research team uses genomic testing broadly for rare diseases, improves patient care

Insights & Outcomes: Gene variants and quantum competitions

May 13, 2021 Share this with FacebookShare this with TwitterShare this with LinkedInShare this with EmailPrint this Yale researchers studying the case of a young girl with a rare genetic disorder known as ANE Syndrome found that a small deletion (red) in the RBM28 protein, which is critical for assembly of ribosomes, was enough to avert fatal effects but prevented proper brain development. This month, Insights & Outcomes investigates the molecular foundations of a rare disorder, kvells over a quantum hackathon, explores the buoyant nature of the childhood immune system, and forges new frontiers in the world of artificial spin ice. As always, you can find more science and medicine research news on YaleNews’ Science & Technology and Health & Medicine pages.