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.
Tuberous sclerosis; general neurology
Tuberous sclerosis; clinical use of mTOR inhibitors; role of mTOR pathway in neurological disease
Associate Professor, UC Department of Pediatrics
Neurology, Tuberous Sclerosis, Rasopathy, Neurofibromatosis