Medical experts have historically believed cerebral palsy occurs due to prematurity, an infection or a lack of oxygen to the developing brain.

Dr. Michael Kruer, an associate professor of neurology and child health at the UA College of Medicine – Phoenix, is turning that assumption upside down. With a $3 million National Institutes of Health grant, he hopes to prove a genetic link to the condition that affects 1 in 250 children.

It’s the first federally funded grant to study whether mutated genes can lead to cerebral palsy.

Kruer's project, "Genomic insights into the neurobiology of cerebral palsy," will focus on the one-third of people with cerebral palsy who do not have the most common risk factors. His research will study mutated genes that could lead to cerebral palsy with the hope of improving treatment for the neurodevelopmental disorder.

"Understanding how brain development goes awry using a combination of genetics and cell biology will help us develop better diagnostics and treatments for a disorder that hasn't seen new therapies in decades," Kruer said.

The grant includes a plan to enroll 500 individuals with cerebral palsy and their parents (1,500 individuals) with the help of the Cerebral Palsy Research Network, a nationwide collaborative that connects centers of excellence in cerebral palsy care. The funds will help Kruer develop and introduce an iphone app this summer that allows families wishing to participate in the research to electronically consent.

Kruer's lab will sequence families' genomes, hoping to discover genes that could lead to cerebral palsy, when mutated. Then, the lab plans to study effects of gene mutations in human cells, yeast and fly models.

"We hope to identify many new 'CP genes' and uncover ways that they converge to affect brain development," Kruer said. "We think in the near term, this will lead to new diagnostics and closure for families, while also affecting the trajectory of CP research."

Kruer, who is chair of the International Cerebral Palsy Genomics Consortium and director of the Cerebral Palsy and Pediatric Movement Disorders Program at Barrow Neurological Institute at Phoenix Children's Hospital, has been studying genetic causes of cerebral palsy for three years. His interest in the condition began 10 years ago with a single, "amazing" family he cared for with four children with cerebral palsy. He said that experience did not fit with what he had been taught about the disorder during his training, leading him to think about cerebral palsy in a different way.

This fall, he will host renowned physician-scientist Dr. Michael Fahey, a Fulbright Scholar and head of the Paediatric Neurology Unit at Monash Children’s Hospital in Melbourne, Australia. Fahey will spearhead application of advanced structural and functional brain MRI analyses to the study of genetic forms of cerebral palsy.

Cerebral palsy is the most common disability in childhood, collectively affecting more than one million Americans and Australians.

“There is far more work to be done than any single research group can do in isolation,” Kruer said. “International collaboration provides the opportunity to bring together expertise in clinical assessment, genomics, neuroimaging and model systems. This will allow us to begin to understand how CP develops at the molecular/cellular level during early neurodevelopment and follow the effects of disrupted brain development from single cell models all the way through living human beings in a bench-to-bedside-and-back manner.”

In April, Kruer was honored with the 2019 Laura Dozer Award by the United Cerebral Palsy of Central Arizona. He was commended for his extraordinary work to bring a “life without limits” to the many individuals with movement disorders and their families.

Kruer said he has dedicated his career to helping children with movement disorders because he wants to be “on the front lines searching for answers and better treatments for the kids I see in my office and in the hospital."

UA President Robert C. Robbins said the research “exemplifies the groundbreaking work our researchers are doing in genomics, and I am very excited to see what Dr. Kruer and his team discover. Studies like this will help UA Health Sciences become a global leader and further our impact in service to Arizona."

"We already know that major neurodevelopmental disorders such as autism, intellectual disability and epilepsy have a strong genetic basis," Kruer said. "Our findings indicate that identifying genetic causes of CP can serve as a window into the fundamental basis of the disorder, and are already telling us that in many cases, CP results from a 'wrong turn' during early brain development."

Research reported in this release was supported by National Institutes of Health R01 grant No.1R01 NS106298. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.

A version of this article originally appeared on the UA College of Medicine – Phoenix website: http://phoenixmed.arizona.edu/about/news/ua-researcher-awarded-3-million-study-genomics-cerebral-palsy