University of Arizona Researcher Wins $3M Federal Grant to Study Genetic Causes of Cerebral Palsy

University of Arizona Researcher Wins $3M Federal Grant to Study Genetic Causes of Cerebral Palsy

A researcher from the University of Arizona (UA) College of Medicine at Phoenix won a $3 million grant from the National Institutes of Health (NIH) to identify and study the possible genetic causes behind cerebral palsy, the most common motor disability in childhood.

Michael Kruer, MD, a professor at the UA College of Medicine, will lead the project “Genomic insights into the neurobiology of cerebral palsy,” which will focus on the as many as one-third of children with cerebral palsy who were not exposed to well-known risk factors — prematurity, infection, or a lack of oxygen to the developing brain.

According to Kruer and his colleagues, for many of these children, a genetic basis underlying their condition is suspected.

“We already know that major neurodevelopmental disorders such as autism, intellectual disability and epilepsy have a strong genetic basis,” Kruer said in a press release written by Teresa Joseph. “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.”

Kruer has been studying genetic forms of cerebral palsy for three years, but his interest in the subject began 10 years ago. At that time, he was caring for an “amazing” family with four children with cerebral palsy, who challenged his view about the origins of the disorder.

With this new grant, Kruer and his team will try to find genetic variations that affect an infant’s brain development and lead to cerebral palsy, hoping these findings “will help us develop better diagnostics and treatments for a disorder that hasn’t seen new therapies in decades,” he said.

Researchers plan to enroll 500 individuals with cerebral palsy and their parents for a total of 1,500 individuals, in collaboration with the Cerebral Palsy Research Network, a nationwide network of doctors, therapists, and patient advocates.

The grant will also fund the creation of an iphone app, set to be ready this summer, to help recruit families wishing to participate in the research.

Families’ genomes will be sequenced to discover genes associated with cerebral palsy, and the effects of the identified variants will be tested in human cells, yeast, and fly models in the lab.

“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.”

In addition, Kruer will work with physician-researcher Michael Fahey, MD, a Fulbright scholar and head of the pediatric neurology unit at Monash Children’s Hospital in Melbourne, Australia. Fahey will employ advanced brain magnetic resonance imaging analyses to study the possible genetic forms of cerebral palsy.

This collaboration, Kruer said, “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.”

Kruer is also a 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.

Ana is a molecular biologist with a passion for discovery and communication. As a science writer she looks for connecting the public, in particular patient and healthcare communities, with clear and quality information about the latest medical advances. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in genetics, molecular biology, and infectious diseases.
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Ana is a molecular biologist with a passion for discovery and communication. As a science writer she looks for connecting the public, in particular patient and healthcare communities, with clear and quality information about the latest medical advances. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in genetics, molecular biology, and infectious diseases.
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