International Foxg1 Foundation

Objective 1: To provide our families with needed equipment not covered by insurance through the Special Needs Equipment Lending Library

Objective 2: To award funds from the Beatrice Fortier Memorial Family Fund, which families may apply to for medical costs that are above and beyond their capability to pay

Objective 3: To fund one FOXG1 Treatment Clinic

Objective 4: To develop and maintain a Clinical Registry for public use

Objective 5: To fund ongoing research into treatment to improve quality of life and research towards a cure

Objective 1: To notify our families that funds are available via email, newsletter, Facebook and Twitter, and take requests for needed equipment. Requests will be evaluated based on their adaptability to multiple individuals. Equipment will be purchased and sent directly to consumer (who will have to sign our Equipment Lending Library Contract), to avoid multiple shipping costs.

Objective 2: To notify our families that funds are available via email, newsletter, Facebook and Twitter that funds are available, and they may fill out the application and submit any supporting documentation. Applications will be reviewed and receive determination at the next Board Meeting, and the Executive Director will notify the families. Individuals in the household will be screened through the Office of Foreign Assets Control, and grants will be awarded directly to the billing entity.

Objective 3: By working closely with Dr. Walter Kaufmann and Dr. Paciorkowski , a budget ($50,000/year for three years), staff and clinic program will be developed and implemented by following the successful Rett Syndrome clinic model, which Dr Kaufmann was a part of during his time at Children's Hospital Boston in Massachusetts.

Objective 4: To develop an international Clinical Registry from pre-approved registry models that conform to HIPPA & European guidelines.

Objective 5: Per our SAB, the next step towards treatments and a cure is developing iPSC lines, which are about to begin with Children's Hospital Boston, and the characterization of the Taconic mouse, which we have a proposal for, as mentioned above, and are seeking funding for. A fully characterized mouse provides documentation of the behavioral and structural symptoms of FOXG1 Syndrome. FOXG1 is one of the first genes triggered en utero to develop the brain structure; once characterization is completed, Dr Nuel will be able to attempt to “turn on" the deleted gene to see what other genes that are triggered after FOXG1. This will give us a better grasp of how we may treat the symptoms of FOXG1 Syndrome patients.

The international FOXG1 Foundation hired an Executive Director in 2017; the role is dedicated to pursuing funding sources, initiating relationships with potential sponsorships and donors, as well as building the volunteer base and developing and implementing annual fundraisers and events.

The Treasurer will provide quarterly reports to the board regarding use of funds and how they relate to all objectives to confirm they are being used correctly. This will allow the board to make sure the IFF is meeting objective targets, and strategize if not meeting goals.

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 355 worldwide. 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.

In 2017, our family membership doubled, and we hired an Executive Director. Our growth continues this year, not only with our families but also with our foundation; IFF has assembled a respected and cutting edge Scientific Advisory Board.

The International FOXG1 Foundation was the recipient of the Eastside High School's Spirit Week in September, 2017. This week-long extravaganza 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.