The lab's work on Rett organoids contributed to the development of Daybue (trofinetide) — the first FDA-approved treatment for Rett syndrome. A second clinical trial, based on antivirals tested on organoids, is currently underway.

On patient organoids, the lab demonstrated that gene therapy corrected neuronal alterations. The FDA approved the clinical trial launched by Mahzi Therapeutics in 2026 — the first gene therapy developed from organoids to enter clinical trial for a rare disease.

The lab studied on cortical organoids the neuronal dysfunctions linked to CDKL5 gene mutations, contributing to the identification of therapeutic targets for this rare syndrome associated with severe early-onset epilepsy.

Organoids created from autistic children's cells revealed that symptom severity is linked to a neuronal overproduction from the embryonic stage — overactive organoids producing too many poorly connected neurons. A discovery opening the way for early biomarkers and therapeutic targets.

In 2016, the lab provided the first direct experimental proof that the Zika virus causes microcephaly — published in Nature. The lab went further: antiviral drugs were tested directly on infected organoids and demonstrated protection against neurological damage. From causal proof to treatment testing — on the same model.

Williams syndrome is caused by a rare chromosomal deletion (7q11.23) leading to specific cognitive and neurological disorders. The Muotri Lab created a dedicated cellular model, enabling for the first time the study of the molecular and cellular bases of this chromosomal anomaly directly on human tissue.

8p syndrome is a rare chromosomal anomaly without treatment. The Muotri Lab created brain organoids from patient cells and identified specific neuronal alterations — invisible by any other means — directly on the mini-brains. A complex chromosomal anomaly, modeled, analyzed, and concrete biological leads emerging.

Organoids sent to the ISS undergo accelerated cellular aging, reproducing mechanisms previously inaccessible in the laboratory. The Muotri Lab leverages this phenomenon to model Alzheimer's and test treatments on organoids showing signs of neurodegeneration — a groundbreaking approach worldwide.

No organoid research exists yet for PKS — anywhere in the world. From Giulia's cells and two other affected children, the laboratory will create mini-brains carrying the real chromosomal anomaly. Goal: understand the biological mechanisms of PKS and test drugs and molecules likely to correct the observed alterations. This is the first step toward a treatment.