Stanford Publication Showcases New Intervention for Timothy Syndrome, a known cause of Autism

(New York: April 24, 2024) The Autism Science Foundation is excited to announce the publication of a groundbreaking new discovery from Dr. Sergiu Pasca’s laboratory at Stanford University, showcasing the transformative potential of utilizing human stem cell models, such as neural organoids and assembloids, in elucidating severe neurodevelopmental disorders. Over the course of 15 years, Dr. Pasca and his team have meticulously identified the fundamental molecular and cellular abnormalities underlying Timothy syndrome—a rare genetic disorder characterized by defects in a calcium channel, which significantly increases the risk of autism spectrum disorder, epilepsy, and developmental delay.

These investigations have yielded invaluable biological insights, culminating in the development of a therapeutic approach capable of effectively reversing these abnormalities both in vitro and in vivo, through the development of a gene therapy that more specifically targets the cause of Timothy Syndrome in model systems and cells obtained from patients. While Timothy syndrome remains a rare condition, the lessons learned from studying it have far-reaching implications. By unraveling its intricacies, we gain a deeper understanding of the broader mechanisms underlying psychiatric disorders.

Autism Science Foundation Chief Science Officer, Dr. Alycia Halladay, is the founder and program officer of the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism, also known as AGENDA, which ASF oversees. AGENDA brings together over 40 patient advocacy groups in an effort to improve outcomes for people with monogenic forms of autism by fostering a genetics-first approach to research and by strengthening collaborations among organizations representing genetically-defined disorders associated with autism.  “Patients with rare variants associated with autism, including Timothy Syndrome, are already pursuing and utilizing gene therapies,” said Dr. Halladay.  “This new approach led by Dr. Pasca’s lab improves the precision of that therapy as well as expands ways to validate them in each individual. This is an enormous breakthrough for a community that struggles with finding therapies that are effective and helpful.

The Autism Science Foundation champions the exploration of rare disorders, as they serve as gateways to uncovering insights into more prevalent causes of autism spectrum disorder. By doing so, we pave the way for the identification of novel intervention pathways, ultimately advancing our ability to treat these conditions effectively.


About the Autism Science Foundation

The Autism Science Foundation (ASF) is a 501(c) (3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. To learn more about the Autism Science Foundation, or to make a donation, visit