International FOXG1 Foundation was formed on October 4, 2012 by six families who have children afflicted with a FOXG1 mutation. FOXG1, previously called Brain Factor 1, is one of the first and most critical genes formed during human development. FOXG1 is a transcoder gene – so it literally codes information and tells our brains how to develop. Thus, a mutation in the FOXG1 gene creates a severe neurological condition characterized by: seizures; major sleep disturbances; small head size; inability to control body movements; mild to significant developmental delay; lack of speech; partial or complete agenesis of the corpus callosum and inconsolable crying during the first year of life. Since our inception, the foundation and its Board have successfully applied for and been approved for 501(c)(3) non-profit tax exempt status. Our family support group has grown from a handful of families to approximately 255 worldwide. Currently we have over 15 world renown Neurogeneticists working to understand, develop treatments and cure FOXG1 Syndrome. Currently, Dr Paciorkowski is conducting the first ever Natural History Study on FOXG1 out of the University of Rochester Medical School in New York state, initiated in conjunction with the Foundation. In October of 2014 the National Institute of Health awarded a $29 million five-year grant to study FOXG1 Syndrome, MECP2 Duplication Syndrome, CDKL5 Syndrome and Rett Syndrome. The goals of this grant are to understand the core clinical features of each disorder, identify if there are any treatments that can improve quality of life, and to understand the link between symptoms and brain imaging/eeg variations. In 2015 we introduced the Beatrice Fortier Memorial Family Fund, developed to provide funding for medical needs not otherwise covered by insurance. We were also awarded a $5,000 grant from Global Genes to start an equipment lending library within our FOXG1 families! We are very excited to be able to fill these gaps and others for our foxes.
Last year, our family membership doubled, and our growth continues this year, not only with our families but also with our foundation. We hired an Executive Director, and have assembled a respected and cutting edge Scientific Awareness Board, consisting of;
Dr. Heather Olson, MD, MS, Children’s Hospital Boston, Assistant in Neurology, Instructor of Neurology, Harvard Medical School. Dr. Olson comes to us from the #1 Pediatric hospital in the world. When bringing her son, Jacob, to his initial evaluation for the NIH RETT, CDKL5, MECP2 and FOXG1 Natural History Study, our Executive Director, Heather Norwood, was very impressed by her knowledge and dedication to rare diseases. Dr Olson has recently opened a FOXG1 clinic at Children’s Hospital Boston.
Dr. Walter Kaufmann, Ravenel Boykin Curry Chair in Genetic Therapeutics, Professor of Neurology, Greenwood Genetic Center. Dr Kaufmann is a clinician and researcher with a focus on developing new and innovative therapies for genetic disorders associated with intellectual disability and autism. Dr Kaufmann has met not only our Executive Director and her son, but also our President, Ileana Giordani and her daughter, Bella.
Dr. Katheryn Elibri Frame, CDKL5 Research Collaborative, is a board-certified diplomat of the American Board of Emergency Medicine, and board prepared in Internal Medicine. In 2008, Dr. Elibri’s daughter, Kiera, was diagnosed with the ultra-rare condition CDKL5 Deficiency Disorder, and she subsequently co-founded the International Foundation for CDKL5 Research, where she served as president from 2009 to 2017. She has been an integral part in guiding the IFF through our initial formation.
Steven Gray, Ph.D. Molecular Biology, UNC School of Medicine, Gray Lab, Assistant Professor, Department of Ophthalmology. Dr. Gray is a leading expert in gene therapy for brain related diseases, working on the first human trial with AveXis Biotech to cure the MECP2 mutation (RETT’s Syndrome).
Dr. Alex Paciorkowski is Senior Instructor of Neurology, Pediatrics, and Biomedical Genetics at the University of Rochester Medical Center. The Paciorkowski Lab research program is focused on the discovery of genes involved in childhood neurodevelopmental disorders, and understanding how those genes affect brain development. Dr. Paciorkowski initiated, in conjunction with IFF, a study that determined FOXG1 is not under the Rett umbrella, but rather a sister syndrome.
Dr Jeffrey Neul, Annette Schaffer Eskind Chair; Director, Vanderbilt Kennedy Center; Professor of Pediatrics, Division of Neurology Dr. Neul is an internationally recognized expert in genetic neurodevelopmental disorders, conducting clinical research and trials on Rett syndrome, genetic research to identify other genetic causes of neurodevelopmental disorders, and translational research using disorder models to identify and test novel treatment modalities for these disorders. Dr. Neul has begin to study the genetic aspects of FOXG1 by using mouse models to further understand the various mutations.
The International FOXG1 Foundation was the recipient of the Eastside High School’s Spirit Week in September, 2017. This week-long extravaganza was filled with 30+ events, cumulating in a spectacular check reveal- the total raised was $106,706!! These funds will be going to the Boston Children’s Hospital Translational Neuroscience Center in Boston, Massachusetts. The goal of this research project is to take tissue and blood samples from FOXG1 affected individuals, turn them into stem cells, and “push” those cells into neurons, called inducible pluripotent stem cells, or iPSCs. These cells will allow for drug testing in a dish, and the researchers will be able to see what medications may be able to interact directly with the brain cells. We are also expecting proposals from researchers around the world regarding gene therapies with AAV9 (adeno associated virus), where a virus with gene editing is introduced to the body, and also CRiSPR/Cas9 (which is sometimes called the cut and paste method), where the unhealthy gene is cut out and replaced with a healthy copy. This study is just the beginning; just to get to gene therapy trials in animals, we need $5 million dollars -believe it or not, that is only the tip of the foxtail- to get to human trails, we are looking at $15-20 million and at least 5-10 years of research. These totals don’t include funding for family support, conferences, salaries and general expenses. Long term, we are hoping to plan a FOXG1 Conference where medical staff can provide clinics, host seminars and provide a place for our families to meet. We are investigating the most effective methods to disseminate information to the general public and the medical community to inform them of not only the Foundation, but also to educate physicians on the signs and symptoms of FOXG1 for earlier diagnosis, all while raising awareness and funds for research. We are committed to following this path, wherever it may lead, and make our dreams reality! We started this foundation so that no one would ever have to feel as alone as we did, with the wish that someday, we will find a cure.