Newborn screening found that Greigh had spinal muscular atrophy. He was sent to Children’s Hospital Los Angeles, where gene therapy saved him from paralysis.

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Under the Microscope: Unlocking the Mystery of Down Syndrome Regression Disorder

August 7, 2023

Jonathan Santoro, MD, is pioneering a novel treatment—and the first clinical trial— for Down syndrome regression disorder, a devastating condition in young people with Down syndrome.

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Children’s Hospital Los Angeles Leads First Precision Health Trial for Dup15q Syndrome

Gene Therapy Saves Greigh From a Paralyzing Muscle Disease

Under the Microscope: Unlocking the Mystery of Down Syndrome Regression Disorder

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