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Towards Therapeutics -The FIRE Team Series, Part IV

Anne at SummitDr. Anne Anderson is a pediatric neurologist at Texas Children’s Hospital at the Baylor College of Medicine, and is part of the Jan and Dan Duncan Neurological Research Institute. Dr. Anderson is the Medical Director of the Epilepsy Monitoring Unit at Texas Children’s Hospital and is a member of the FAST Integrative Research Environment Initiative (FIRE), a consortium of scientists, with precise expertise in Angelman Syndrome (AS), who work collaboratively to identify, characterize and implement new therapeutics for the treatment and ultimate cure of AS. This initiative was launched in 2013, includes five laboratories spanning four universities and is funded in full by donations made to FAST. To date, FAST’s investment in the FIRE Initiative stands at more than $3.4 million. The results of this collaboration have been remarkable and the FIRE team is now working with more than six pharmaceutical and biotechnology companies to prepare for and test potential therapeutics for human clinical trial. Dr. Anderson’s research focus is in epilepsy; she is an expert in EEG evaluation and epileptogenic seizures. At the last FAST Summit, Dr. Anderson discussed how her research is evaluating seizure and behavioral phenotypes (characteristics) in AS mice and how this information can be used in preclinical studies. EEG studies in AS mice demonstrate a typical AS tracing. AS mice have seizures and a lower threshold to seize, which can be seen on EEG tracings. Different strains of AS mice have different morphology seen on the EEG, which can be valuable in their respective evaluations. Candidate therapeutics for AS treatment can be evaluated using EEG tracings before and after a therapeutic is initiated. Monitoring the tracings when a seizure is induced, or attempted to be induced (e.g. auditory seizures), can show evidence of improved seizure control and brain wave activity from a specific therapeutic. A recently evaluated drug, NNZ-2566, an IGF-1 (insulin-like growth factor) analog, was found to be ineffective in rescuing the seizure and/or behavioral phenotype in AS mice. Future drugs to consider screening with this method are: Cannabidiol, Ketone Ester, OV101 (Gaboxadol), Zinc Fingers and AAV gene therapy. If Dr. Anderson can demonstrate improvements in EEG tracings, seizure control and/or behaviors, after drug initiation, this could be a very strong biomarker and outcome measure for future clinical trials.