The goal of this project is to convert skin cells from patients with autism into neurons and to study the properties of these neurons. To achieve this we will first convert cells from the skin into induced pluripotent progenitor (iPS) cells. A pluripotent cell can create all other kinds of cell types. iPS cells are a type of pluripotent stem cell that is derived in the lab by introducing specific genes into skin cells. We will grow these pluripotent stem cells into brain cells and then compare these brain cells from individuals with autism to cells from individuals without autism. We hope that these studies will help us identify what is different in the brain cells of autistic patients.

We are currently recruiting families with children who have been diagnosed with an autism spectrum disorder or with other developmental disorders that share features with autism. 

We are currently recruiting familes and individuals with:

Autism spectrum disorders due to known copy number changes at 16q11,15q11-q13

Autism spectrum disorders due to  point mutations in genes including

SHANK3, NLGN3 and NLGN4

Families with the following syndromes:

Timothy Syndrome: mutations in the CACNA1C gene

Phelan-McDermid Syndrome: deletion in 22q13

Velocardiofacial Syndrome:   deletion in 22q11

Deletion or duplication of the neuroligin or neurexin genes

Families with multiple siblings affected with ASDs

Autism spectrum disorders due to a known genetic cause not listed above

(please contact us to discuss eligibility)

We are not recruiting families with Rett Syndrome or Fragile X syndrome at this time

If you wish to participate please email

Dr. Ricardo Dolmetsch (ricardo.dolmetsch@stanford.edu) or Dr. Joachim Hallmayer (joachimh@stanford.edu) call 650 723 9812. 

Please read more about our study by following this link