I am a neurologist who treats patients with conditions such as tuberous sclerosis complex, neurofibromatosis and RASopathies. Many rare genetic diseases affecting the nervous system are first identified in children, but they don't stop in childhood. As a result, I care for patients of all ages, including adults affected by these conditions.
Pediatric neurology continues to be a medical specialty where discoveries and new treatments are exploding. This is particularly true for many rare genetic diseases, which I focus on in my clinical practice and research.
Personalized medicine, a multifaceted approach to patient care, is rapidly becoming a reality. Clinicians, researchers and parents form a team in which each stakeholder has equal importance and value. Parents are the expert in their child, clinicians are expert in medical tests and treatments, and researchers advance scientific understanding and treatment options. Proper care depends on the coordination and communication among all three stakeholders.
Pediatric neurological conditions caused by genetic mutations frequently start to impact the brain very early in life, even before birth. My research focuses on identifying the molecular consequences that negatively impact the brain's development so that we can develop treatments and introduce them early to preserve normal brain development and function.
I was honored to receive the 2019 Manuel R. Gomez Award from the Tuberous Sclerosis Alliance. This annual award goes to the clinician or researcher making significant contributions to research or treatment of patients affected by tuberous sclerosis complex.
In my spare time, I enjoy travel, music and technology. I also dabble in woodworking when time permits.
MD: Saint Louis University School of Medicine, St. Louis, MO, 1995-1997; 2000-2002.
PhD: Saint Louis University Graduate School Biochemistry and Molecular Biology, St. Louis, MO, 1997-2000.
Tuberous sclerosis; general neurology
Neurology, Tuberous Sclerosis, Rasopathy, Neurofibromatosis
Tuberous sclerosis; clinical use of mTOR inhibitors; role of mTOR pathway in neurological disease
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Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. Epilepsy and Behavior. 2020; 103:106844.
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019; 60:2428-2436.
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. European Journal of Paediatric Neurology. 2018; 22:1066-1073.
Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. Pediatric Neurology. 2017; 75:80-86.
Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor. The Journal of Pediatrics. 2017; 187:318-322.e2.
The genomic landscape of tuberous sclerosis complex. Nature Communications. 2017; 8:15816.
Influence of seizures on early development in tuberous sclerosis complex. Epilepsy and Behavior. 2017; 70:245-252.
Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology. 2016; 87:2408-2415.
Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. Annals of Neurology. 2015; 78:929-938.
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genetics. 2015; 11:e1005637.