UCI Awarded $5.8 Million in Grants to Study Autism
When two doctors diagnosed her 2-year-old son Trevor’s condition as autism, Jean Mertz of Yorba Linda could have reacted with despair or determination.
“When you first get the news, that’s when you have to decide: ‘Am I going to be depressed and in denial? Or am I going to get up on my high horse and go and advocate for my child?’ ”
In the 16 months since the diagnosis, Mertz and her husband have chosen the latter course, reading everything they could about the disorder, forming a parents network and becoming experts at procuring state and local services for their son.
Now they have enrolled Trevor in a landmark autism research project at UC Irvine that hopes to crack the genetic codes that have mystified scientists for decades.
Researchers at UCI College of Medicine and the School of Social Ecology have been awarded two grants totaling $5.8 million that will allow them to spend the next five years searching for brain abnormalities in participants and studying the genetic components of autism.
Autism, a neurological disorder that manifests itself before children are 3 years old, impairs social development and verbal and nonverbal communication skills. Autistic children also may engage in repetitive activities that appear to be an obsessive-compulsive disorder but are not.
Once thought to affect three or four people per 10,000, now it is believed that one in 500 to 1,000 people are autistic.
The disorder is hereditary. The Mertzes say family medical records indicate that an uncle may have been autistic. They hope that their participation in the study will uncover more information.
“My husband has an uncle who died in 1963, and in the medical records the diagnosis was that he had paranoia schizophrenia. But it also said he had autistic-like qualities and we want to know more,” Mertz said.
According to researchers, autism is probably a combination of disorders. One of the project’s goals is to pinpoint them, said project director Dr. Anne Spence, a geneticist and professor in UCI’s pediatrics department.
“When you look at kids who behave in autistic fashion, it’s got to be more than one disorder. I think we can find that out because we’re bringing the right study tools to bear,” she said.
The award money will fund two parallel studies. A $1.5-million grant from the National Institute of Neurological Diseases and Stroke will go to Dr. Pauline Filipek, a pediatric neurologist, to expand her existing magnetic resonance imaging studies of the brains of autistic people.
A $4.3-million grant from National Institutes of Child Health and Human Development will fund three related projects.
In the first, Filipek will analyze the MRI results of pre-adolescent children with autism.
In the second, Dr. Wendy Goldberg, associate professor of psychology and social behavior, will examine autistic regression. Such regression occurs when children lose verbal or social skills after showing signs of a normal early development.
In the third, Spence and Dr. Moyra Smith, a molecular geneticist, will search for the chromosomes that contribute to the development of autism.
Genetically mapping autism is an endeavor made possible by the Human Genome Project, Spence said.
The project has allowed scientists to pinpoint the genes triggering some disorders: Huntington’s disease has been mapped, as has cystic fibrosis and Marfan’s syndrome, a genetic defect that affects the body’s connective tissue.
“But those are inherited in a simple fashion, so a reasonably simple map was all that was needed,” Spence said. “Something like autism is very complex.”
