Skip to main content

COVID-19 Advisory: Only one primary caregiver may accompany a patient at all locations. Masks required for visitors and patients ages 2+. For more information, visit our COVID-19 Resource Center.

Neurogenetics Lab

Research Institute

Closely aligned with the mission of the Cerebral Palsy & Pediatric Movement Disorders Program at Phoenix Children's, the Phoenix Children's Neurogenetics Laboratory studies the molecular and cellular basis of cerebral palsy (CP) and related movement disorders. Our goal is to develop a personalized medicine approach to care by combining genomic insights with studies designed to develop new therapies.

Gene Discovery

Our team performs detailed clinical phenotyping (including video analysis of movement disorder phenomenology) and evaluation of laboratory, electrophysiologic and neuroimaging studies. We collect DNA and cell samples from patients, and their family members and perform whole exome or whole genome sequencing to identify the genetic basis of the disease. Two main projects are currently underway, the Genetic Basis of Cerebral Palsy and the Molecular Mechanisms of Movement Disorders.

Genetic Basis of Cerebral Palsy

The lab's largest ongoing project seeks to understand the genetic basis of CP, a cardinal neurodevelopmental disorder. Our group has established the Cerebral Palsy Genetic Research Network (CP GRN) in collaboration with physicians and researchers worldwide, in order to characterize the molecular basis of cerebral palsy.

Although it has long been known that lack of oxygen or extreme prematurity can lead to cerebral palsy, for up to 30% of children with CP the cause of their disorder has remained a mystery. In collaboration with an international team of researchers, the Phoenix Children's Neurogenetics Lab has identified mutations in novel genes that lead to cerebral palsy in a subset of patients. These mutations have highlighted a role for key pathways that regulate brain development and lead to cerebral palsy when they go awry. The lab is currently using diverse techniques, including yeast genetic screens, biochemical and molecular assays in human patient cells, iPSC-neurons, and drosophila models combined with video-based patient phenotyping, neuroimaging and neuropathology to characterize fundamental pathways that govern cerebral palsy neurobiology.

Molecular Mechanisms of Movement Disorders

Through partnerships with referring physicians and families, we enroll patients with chorea, dystonia, ataxia, juvenile parkinsonism, and other movement disorders in our studies in order to decipher the fundamental cause of what is often a rare, undiagnosed childhood neurological disease.

Validation Studies

Using patient-derived cells and mammalian cell lines, we can determine whether a suspected mutation affects cellular biology and/or biochemistry. We also use yeast as a powerful complementary genetic model system to evaluate the effects of mutations. These studies are crucial in order to confirm the role of a suspected mutation in disease.

Disease Gene Biology & Therapeutic Development

A key part of our work is to not only characterize the genetic basis of disease, but to use newfound genetic insights as a window into disease biology. We use a variety of systems in our laboratory, including yeast, mammalian cell culture, mouse models, and neuronally differentiated iPSCs.

Through our collaborative network, we evaluate the effects of gene loss of function in vivo using zebrafish and drosophila. Our studies to date have indicated an important role for cellular metabolism, mitochondrial biology and autophagy in the diseases we study, and current efforts focus on establishing key mechanisms leading to disease as well as novel compounds that might be useful therapeutically.

Meet Our Team

Share this page