The work
Dr. Jonathan Santoro is a pediatric neurologist and NIH-funded physician-scientist at Children’s Hospital Los Angeles (CHLA), with specialty training in neuroimmunology. He leads pioneering research into Down Syndrome Regression Disorder (DSRD), a condition in which people with Down syndrome lose skills they once had.
What we support
We began supporting Dr. Santoro in 2021, before his team received a $5.3 million grant from the National Institutes of Health in 2023. Our grants have paid for staff, equipment, clinical trial resources, and specialist training. Our first seed grant helped make possible the first clinical trial in DSRD, completed in May 2026.
In January 2026, we funded the first Down Syndrome Neurology Fellowship in the United States. Over 12 months at CHLA and the USC Alzheimer’s Therapeutic Research Institute, a new physician is training to care for people with Down syndrome across their whole lives.
Why it matters
There is still much we don’t understand about DSRD. Dr. Santoro’s team lets the evidence lead, including links to Alzheimer’s disease and other neurodegenerative conditions. What they learn could bring earlier detection, better diagnosis, and treatments insurance will cover, so research becomes care that families can actually get.
Milestones we’re proud of
- 2021Our first seed grant, which helped make possible the first clinical trial in DSRD (completed May 2026).
- StudyA completed prevention study using transcranial Doppler ultrasound to detect moyamoya vasculopathy and stroke.
- 17Research publications on Down syndrome topics, including liver inflammation and therapies.
- 2026The first Down Syndrome Neurology Fellowship in the United States.
Further reading
- A Comparative Effectiveness Study of Lorazepam or IVIg Versus No TreatmentMarch 2026
- Serum and Cerebral Folate Are Normal in Down Syndrome Regression DisorderJanuary 2026
- Unexplained Regression in Down SyndromeAugust 2022
- Evidence of Neuroinflammation and Immunotherapy Responsiveness in Individuals with Down Syndrome Regression DisorderJune 2022
- Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing ImportanceJune 2020