Stanford Neurogenetics and Neurogenomics

Overview

The Stanford Neurogenetics and Neurogenomics Program is a collaborative effort amongst multiple clinics, research laboratories, and other medical professionals at Stanford who specialize in neurogenetic conditions that affect children and adults. In the Adult and Pediatric Neurogenetics and Neurogenomics clinics, we evaluate, diagnose, and provide comprehensive care including genetic counseling and testing for rare neurologic disorders. Our collaborators include basic science, translational, and clinical researchers who share the common goal of better understanding the disorders we diagnose and manage in efforts to develop novel treatments. We coordinate with other specialists to ensure optimal care for each patient and their families.  

What We Do

Our faculty and staff are committed to providing cutting-edge diagnostic and therapeutic strategies for those with complex neurologic disorders. The Stanford Neurogenetics and Neurogenomics program houses experts in: mitochondrial disease, leukodystrophies, neuromuscular disorders, and severe epilepsy syndromes, as well as undiagnosed neurologic conditions. By embracing a multidisciplinary and collaborative approach, and by facilitating participation in clinical trials, we are well-positioned to support the rare disease community in an era of rapid progress.

Adult

Jacinda Sampson, MD, PhD
Director, Stanford Neurogenetics, Stanford Healthcare, Associate Professor of Neurology and Neurological Sciences

Dr. Jacinda Sampson received her MD and a PhD in biochemistry from University of Alabama at Birmingham, and completed her neurology residency and neurogenetics fellowship at the University of Utah. She served at Columbia University Medical Center prior to joining Stanford University Medical Center in 2015. Her areas of interest include myotonic dystrophies, Duchenne muscular dystrophy, and neurogenetic disorders such as neurofibromatosis, hereditary spastic paraparesis, spinocerebellar ataxia, among others. She is interested in clinical trials for treatment of neurogenetic disorders, and is the clinical application of next-generation genomic sequencing to genetic testing.

Pediatrics

Maura RZ Ruzhnikov, MD
Director Stanford Neurogenomics, Stanford Children's Health, Clinical Assistant Professor of Neurology and Neurological Sciences

Dr. Maura Ruzhnikov is Clinical Assistant Professor of Neurology and Medical Genetics at Stanford. She obtained her MD at NYU School of Medicine, and completed her child neurology residency and fellowship at UCSF followed by a clinical medical genetics fellowship at Stanford. She focuses on the diagnosis and management of rare neurogenetic and neurometabolic disorders, with a particular interest in severe epilepsy syndromes, leukodystrophies, and neurotransmitter disorders. She directs the Stanford Neurogenomics program, and co-directs the Neurometabolic Disorders Clinic with Dr. Greg Enns in Medical and Biochemical Genetics.

Stanford Neuroscience Health Center

The Stanford Neuroscience Health Center brings together world-class specialists in neurology, neurosurgery, and interventional neuroradiology. Using the most advanced treatments, diagnostics and imaging technologies, we address your complex and unique needs all within the comfort and convenience of a single location.

Lucile Packard Children's Hospital Stanford

Our child neurology team specializes in treating the full range of neurological conditions in infants, children and adolescents, from head injury to genetic and neuromuscular disorders.