Stem Cell Research

CHOC Children’s researcher, Dr. Phil Schwartz, explains how stem cell research may lead to diagnosing autism with a simple blood test.

Stem cells have unique properties. First, researchers can grow lots of them in the lab, making them easily available. Second, because they are immature, they can mature into many different cell types in the body opening up a world of possibilities for the treatment of diseases.

Scientists at the CHOC Children’s Research Institute are leading the way for research focusing on using immune-matched stem cells to treat pediatric brain disorders.

Autism and Stem Cell Research

Scientists and researchers at the CHOC Research Institute continue to study autism spectrum disorders (ASDs) in an effort to find the causes and develop effective treatments for these perplexing and mysterious disorders.

In one of the labs, Dr. Philip Schwartz and his team use stem cells made from the skin of patients with autism or ASD and turn them into brain cells to better understand the conditions.

Two scientists in a lab

Using Stem Cells to Treat Pediatric Brain Disorders

Happy little girl profilePhilip H. Schwartz, PhD, a senior scientist at CHOC Children’s and research biologist at UC Irvine, has been involved in pediatric brain research for 25 years. Dr. Schwartz and his team use stem cell research not only to treat disease, but also to gain a better understanding of disease processes– working to unlock mysteries that will eventually become treatments and one day, cures.

Dr. Schwartz’s starting point for treatment is Hurler’s Syndrome, a rare, inherited disease of metabolism called a lysosomal storage disorder. Children with this disease generally die before their 10th birthday.

Individuals with this disease do not make an enzyme that helps break down long chains of sugar molecules called glycosaminoglycans. Without this enzyme, glycosaminoglycans build up and damage organs, including the brain. CHOC Children’s is the only hospital in the country with a focus on using immune-matched stem cells to treat enzyme deficiencies of the brain.

Through research, Dr. Schwartz seeks to gain a better understanding of other brain diseases including autism. Dr. Schwartz uses Induced Pluripotent Stem Cell (iPSC) technology to transform skin stem cells to brain stem cells, allowing him to study brain disease without ever touching the brain. Dr. Schwartz and his team built a cell production facility at CHOC Children’s and his next step is to convert it into a FDA-compliant cell manufacturing operation, where one day the stem cells can be transplanted into children, providing them, for the first time, a comprehensive treatment that has the possibility of curing them.

First Stem Cell Production Facility to Focus on Immune-Matching Therapies Opens at CHOC

A new stem cell production facility at Children’s Hospital of Orange County (CHOC) will allow researchers to produce patient-specific cells for future immune-matching therapies that could positively impact fatal neurological diseases in children.

The state-of-the-art softwall clean room is one of less than a dozen of its kind in the nation, and the only one focused on immune matching rather than immune suppression.

Built at the fraction of the cost of a larger, more complex laboratory, the facility will allow CHOC researchers to study a stem cell-based therapy for the treatment of mucopolysaccharidosis (MPS-1), a rare and progressive neurodegenerative disease that typically claims patients before age 10.

“Based on the results of animal trials we’ve conducted so far, we have a high degree of confidence that stem cell-based therapy will work to treat MPS-1,” said Philip Schwartz, Ph.D., senior scientist at the CHOC Children’s Research Institute and managing director of the National Human Neural Stem Cell Resource.

“If our research is successful, the approach could be used to treat a number of other immune-based diseases that damage the nervous system, like multiple sclerosis,” Dr. Schwartz said.

The approach involves using umbilical cord blood to replace a patient’s immune system, then implanting neural cells derived from the same blood into the brain to repair and prevent brain damage.

While implanting cells directly into the brain isn’t new, current treatment protocols require that patients take immunosuppressant drugs to reduce the risk of rejection, which leaves them vulnerable to a host of infections.

Standard procedures for replacing the immune system, like bone marrow transplants, aren’t effective for patients with brain disorders caused by their underlying disease because the transplanted cells don’t cross the blood-brain barrier and therefore don’t slow the progression of brain disease.

Dr. Schwartz estimated that about five years of work would be required to establish a program before approaching the U.S. Food and Drug Administration for approval to begin Phase I clinical trials. The current research project is supported by a $4.27 million grant from the California Institute for Regenerative Medicine.