Several of our research projects are currently enrolling research subjects:
Epilepsy Research Center for the University of Melbourne
Ingrid Scheffer, PhD, and Sam Berkovic, MD, at the Epilepsy Research Center for the University of Melbourne, have been studying the inheritance of epilepsy for over 20 years. Participants include twins and extended families with epilepsy. Individuals interested in participating in these research studies can learn more by visiting their website http://www.austinmedicine.unimelb.edu.au/research/epilepsy/clinical-genetics.html and can email the research team to see if they are eligible.
Brain Development Research Program at UCSF
Elliott Sherr, MD, at the Brain Development Research Program at the University of California, San Francisco, is enrolling patients in three studies:
Epileptic Encephalopathies: Lennox Gastaut Syndrome and Infantile Spasms is enrolling people who have an epileptic encephalopathy and both parents
Biomarker Discovery in Autism Spectrum Disorders is enrolling people with a diagnosis of autism spectrum disorder
Disorders of Cerebral Development is enrolling people with a range of cortical malformations and neurodevelopmental disorders, including Agenesis/Dysgenesis of the Corpus Callosum (A/DCC), Aicardi Syndrome, Polymicrogyria (PMG), Periventricular Nodular Heterotopias (PVNH), Subcortical Heterotopias (SCH), Dandy-Walker Malformation (DWM), and other malformations of cortical development.
Epilepsy Genetics Program, Boston Children’s Hospital
Annapurna Poduri, MD, MPH and her team at the Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children’s Hospital are performing gene discovery, genotype-phenotype correlation studies, and zebrafish modeling of epilepsy genes.
They are enrolling participants and their families in a study on the Genetics of Early Onset Epilepsy (including infantile spasms, Ohtahara syndrome, migrating partial seizures of infancy, neonatal epilepsy of unknown etiology, and other early onset epileptic encephalopathies) for DNA studies. Please contact [email protected] to discuss eligibility and participation.
Dr. Poduri’s group is also investigating the genetic causes of epilepsy caused by developmental brain malformations (including hemimegalencephaly, focal cortical dysplasia, polymicrogyria, and subcortical heterotopia) and inflammatory epilepsies (including Rasmussen encephalitis). In particular, we are trying to identify “somatic mutations” that cause focal brain malformations by studying DNA from patients with brain malformations, both from the blood (white blood cells) and the brain tissue when it is removed as part of clinical treatment of refractory epilepsy. Please contact [email protected] to discuss eligibility and participation in the Somatic Mutations in Epilepsy-related Brain Malformations study.
The Human Epilepsy Project
The Human Epilepsy Project (HEP) is currently enrolling people with newly diagnosed focal epilepsy. HEP is a five-year, prospective, observational study to identify clinical characteristics and biomarkers predictive of disease outcome, progression, and treatment response in participants with newly treated focal epilepsy. If you would like to learn more about this project, please contact the Director, Sabrina Cristofaro, RN at NYU Medical Center.