Neurology, Genetics
Rady Children's Specialists of San Diego
CPMG/RCHN/RCSSD
Weill Cornell Medicine
Weill Cornell Medicine
UC San Diego
Neurology, Clinical Genetics
F
Dr. Kristen Barbour is a pediatric neurologist and medical geneticist at Rady Children's Health. She completed her pediatric neurology residency at Weill Cornell Medicine and medical genetics fellowship at UC San Diego.
In her child neurology practice, Dr. Barbour sees a variety of patients, including seeing children with seizures, hypotonia, motor delay, developmental delay, learning difficulties, abnormal movements, macrocephaly or microcephaly, and other neurologic conditions. In her clinical genetics practice, Dr. Barbour sees children with neurologic conditions, as well as those with short stature, difficulty gaining weight, unique facial features, congenital anomalies, and abnormalities involving other body systems: vision, hearing, heart, bones, limbs, teeth, skin, hormones, etc.
Dr. Barbour strives to provide the best diagnostic and treatment plan tailored to each patient. Diagnostic evaluations involve taking a careful history and exam to identify symptoms that could be related to neurologic or genetic conditions. She works to connect families to available resources, and is available to help with interpreting research and considering clinical trials.
In her research, Dr. Barbour works with people who have rare neurogenetic conditions to study the off-label use of medications for these conditions, including for STXBP1, SLC6A1, SYNGAP, and PURA syndrome. Dr. Barbour has an additional research interest in using data stored in our electronic health records (EHRs) to learn from previous clinical experiences. Within this area, she developed automated tools to analyze text of physician notes to study rare occurrences in medicine. For example, she used natural language processing to identify epilepsy risk factors in EHRs, study patient counseling practices, and identify individuals with rare diseases for epidemiologic research.
In her spare time, she enjoys reading fiction from amazon's top 20 list, listening to podcasts, visiting with other moms, and organizing her home and office.
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