Patient Advocacy and Education Partners
The Rare Epilepsy Network, or REN for short, is a collaboration between the Epilepsy Foundation, RTI International, Columbia University and many different organizations that represent patients with a rare syndrome or disorder that is associated with epilepsy or seizures. The REN will establish a registry of these patients which includes patient or caregiver-reported data in order to conduct patient-centered research. Learn how you can help with this important research. REN includes these organizations:
The My Special Needs Lifestyle Blog shares resources and insights from the personal journey of Danielle Boyce, the founder of Neurology Parent Professionals and mother of a child with infantile spasms. Danielle has a Master's in Public Health with a concentration in epidemiology, travels the country speaking to the healthcare community about the importance of including the caregiver perspective in every aspect of healthcare, including research. She has developed a huge social media network of parents with kids with severe epilepsies, some with known genes and some still looking for a cause for their child's seizures.
The Personalized Therapy In Rare Pediatric Epilepsies-Study Group (PTIRPE-SG) was initiated by clinical epileptologists 10 years ago to facilitate the international exchange of experiences (retrospective, anonymized) concerning the epilepsies of the more than 100 rare epilepsies with a genetic cause. The PTIRPE-SG has more than 350 members from 12 countries and 130 rare diseases. Current studies of “personalized” therapies include quinidine in KCNT1-mutations, memantine in GRIN2A/2D-mutations, and 4-aminopyridin in KCNA2-mutations.
The KCNT1 Registry, directed by Dr. David Bearden at the Children’s Hospital of Philadelphia, iscurrently enrolling families with KCNT1. They have enrolled more than 40 subjects.
The International KCNQ2 Encephalopathy Patient Registry is being established as a collaborative effort between medical researchers and the KCNQ2 Cure Alliance. The database will have a worldwide reach in collecting information from families on their child’s specific genetic and clinical presentation and that data (in a de-identified format) will be accessible to all professionals aiding in our mission to find a cure for KCNQ2 EOEE.
The Epilepsy Foundation’s Epilepsy.com has volumes of information for families with epilepsy and clinicians. Epilepsy.com provides connections to other families with epilepsy--both via online and in your local community--and information--about new treatments, seizure management, patient rights, new research, and more.
Citizens United for Research in Epilepsy (CURE), was founded by Susan Axelrod and a group of parents of children with epilepsy who wanted to protect their children from seizures and the side effects of medications. CURE's mission is to cure epilepsy, transforming and saving millions of lives. Since its inception in 1998, CURE has been at the forefront of epilepsy research, raising more than $40 million to fund research and other initiatives that will lead the way to a cure for epilepsy.
The mission of Finding a Cure for Epilepsy and Seizures (FACES) is to improve the quality of life for all those affected by epilepsy and seizures. FACES is affiliated with NYU Langone Medical Center and its Comprehensive Epilepsy Center and funds research to improve epilepsy care, advances new therapies, and fosters a supportive community for children, families and caregivers who live with the challenges of epilepsy.
The Epilepsy Genetics Initiative (EGI) is a new initiative created by the Citizens United for Research in Epilepsy (CURE), National Institute of Neurological Disorders and Stroke (NINDS), and Vogelstein Foundation to advance precision medicine in epilepsy. EGI has created a centralized database to hold the genetic data of people with epilepsy to attempt to identify the cause of the person’s epilepsy. If you are having genetic testing done, you could have your exome data contributed and studied at EGI.
The Epilepsy Phenome/Genome Project (EPGP) was an international research project from 2007-2014 that enrolled more than 4,000 people with epilepsy--1435 families with generalized or focal epilepsy, and 826 families with rare epilepsies. These families are being genotyped within the Epi4K project.
The EPICURE Project (2007-2009) mobilized the synergies of the European research community to identify the genes that cause epilepsy and pharmacoresistance. The collective studied the molecular, cellular, and network levels of mutations in ion channel genes as well as antiepileptic medication.
Ann Poduri, MD at the Epilepsy Genetics Program at Boston Children’s Hospital studies epilepsy genetic disorders, particularly in infantile spasms, Ohtahara Syndrome, Dravet Syndrome, and malformations of cortical development. Contact the program for more information: (617) 355-8656
Elliott Sherr, MD at the Brain Development Research Program at the University of California, San Francisco has ongoing research is looking at the epileptic encephalopathies (infantile spasms and Lennox-Gastaut Sydrome), autism spectrum disorders, agenesis of the Corpus Callosum, and Aicardi Syndrome. Contact the Research Coordinator directly for more information: (415) 502-8039
The goal of the Patient-Centered Outcomes Research Institute (PCORI) is to determine which of the many healthcare options available to patients and those who care for them work best in particular circumstances. PCORI supports Patient-Centered Outcomes Research, or PCOR, research that addresses the questions and concerns most relevant to patients, and we involve patients, caregivers, clinicians, and other healthcare stakeholders, along with researchers, throughout the process.
