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Child's illness fuels lab team's search for early-life epilepsy diagnostics

When Ramon Birnbaum, PhD, came to UCSF three years ago to do his postdoctoral work on the role of genetic regulation in human disease in the lab of School of Pharmacy faculty member Nadav Ahituv, PhD, epilepsy was barely on his radar.
Once, while serving in the Israeli military, he saw a fellow soldier suffer a seizure. Upon arriving on campus, just out of curiosity, he attended a presentation by Daniel Lowenstein, MD, director of the UCSF Epilepsy Center. That was the sum total of Birnbaum’s experience with this spectrum of seizure disorders, which affect an estimated 50 million people worldwide.
Then, in 2010, his daughter Ruth was born, and everything changed.

Morehttp://pharmacy.ucsf.edu/news/2012/07/23/1/

Tags: 
epilepsy
UCSF Epilepsy Center
UCSF Pediatric Epilepsy Center
infantile spasms
genetic diagnosis
National Institutes of Health
NIH
genetics
EUREKA
Exceptional Unconventional Research Enabling Knowledge Acceleration
genetic mutations
limb malformations
UCSF Brain Development Research Program
Epilepsy Phenome/Genome Project
Epi4K
pharmacogenomics
enhancers
promoter
silencers
insulators
reporter gene
genome-based diagnosis
EEG
MRI
Key people: 
Naddav Ahituv
Ramon Birnbaum
Daniel Lowenstein
Ruth Birnbaum
Joseph Sullivan

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