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Content related to Under the Microscope: Unlocking the Mystery of Down Syndrome Regression Disorder

A man in a lab coat leans on a research bench, smiling at the camera
Research and Breakthroughs

Breakthrough Study Led by CHLA Neurologists Links Blood-Brain Barrier Dysfunction and Inflammation With Down Syndrome Regression Disorder

March 7, 2025
Investigators led by CHLA’s Jonathan D. Santoro, MD, published a new research study that links Down syndrome Regression Disorder (DSRD) with neuroinflammation and dysfunction of the blood-brain
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Our Patients

New Treatment for Down Syndrome Regression Disorder Helps Bring Darci Back to Herself

June 27, 2024
When athlete Darci suddenly became catatonic, her mom learned of a new Down syndrome regression disorder treatment at CHLA that is bringing her back to herself.
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A young boy with blonde hair climbs a large tree on a blue-sky day at the park.
Our Patients

“Meaningful Hope:” Elevidys Gene Therapy Helps Eliot Move With Ease

February 3, 2025
At 4 years old, Eliot was the first patient at CHLA to receive Elevidys, a groundbreaking new gene therapy for Duchenne muscular dystrophy. The treatment has been a game changer for his health.
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Care Innovation

How an ICD-10 Code Is Improving Care for Children With MOGAD

July 28, 2023
A neuroimmunologist at Children’s Hospital Los Angeles led an effort to create an ICD-10 code for MOGAD—helping to speed access to critical medications.
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CHLA In the News

CHLA Neuroimmunology Expert Jonathan Santoro Featured in Washington Post Article About Breakthrough Discovery in Down Syndrome Regression Disorder

May 22, 2024
New immunotherapy treatment is bringing hope to families devastated by DSRD.
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Our Patients

‘I Can See! I Can See!’

July 11, 2019
You will have to grant a parental pardon to Heather for her momentary excessive permissiveness, allowing her 5-year-old daughter to race down the block after dark, free from her mother’s hand. It wasn
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Smiling young boy with medium skin tone, dark hair and a feed tube sits in the passenger seat of a car wearing a blue bucket hat and blue t-shirt
Our Patients

Lifesaving Brain Surgery Rescues Buddy From a Rare Encephalitis

January 23, 2024
Rasmussen’s encephalitis imperiled Buddy’s life. Doctors performed a hemispherectomy, disarming his epileptic seizures by separating the two sides of his brain.
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A young boy with a medium skin tone sitting in a wheelchair and smiling while an adult woman with a medium skin tone steps out of a car and smiles at him, holding his hand.
Research and Breakthroughs

As FDA Expands Approval of a New Gene Therapy to Treat Duchenne Muscular Dystrophy, a CHLA Expert Weighs in

July 1, 2024
The new approval opens the gene therapy to a wider range of children with Duchenne muscular dystrophy, a rare genetic disorder that worsens over time.
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Our Patients

Ali’s 13,000-Mile Journey of Hope

August 2, 2018
First, he wiggled his fingers. Then he wiggled his toes. Now, he moves his head side to side, and he furrows his eyebrows when he doesn’t agree with you. For 3-year-old Ali Al-Mutawa—and for his
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