Programs

  • FOXP1 Family Support and Research Conference

    RESEARCH AND FAMILY SUPPORT:THE INTERNATIONAL FOXP1 FOUNDATION HOSTED A FAMILY GATHERING AND CONFERENCE IN WHICH APPROXIMATLEY 150 PEOPLE ATTENDED TO MEET RESEARCHERS AND FAMILIES IMPACTED BY FOXP1 SYNDROME.
    Geographies
    Not indicated
    Dates
    Jan 1, 2023 – Dec 31, 2023
    Source
    990
    No causes provided
    No populations provided
    –
    $36.4K

  • Program 1 [2024]

    THREE-DIMENSIONAL ORGANOID MODEL OF FOXP1 SYNDROME-THE ULTIMATE GOAL OF THIS PROJECT IS TO DEVELOP AN IN VITRO MEDIUM-TO-HIGH THROUGHPUT ASSAY FOR SCREENING OF COMPOUND LIBRARIES. THE "HITS" FROM SUCH A SCREEN WILL BE DEFINED AS COMPOUNDS THAT "NORMALIZE" THE FOXP1 ORGANOID PHENOTYPE IN A DOSE-DEPENDENT MANNER. WHILE THERE IS NO OBVIOUS MECHANISTIC OR FUNCTIONAL LINK BETWEEN THE ORGANOID PHENOTYPE AND THE CLINICAL PRESENTATIONS, IT IS REASONABLE TO ASSUME THAT CHANGES IN ORGANOID DEVELOPMENT REFLECT CHANGES IN BRAIN DEVELOPMENT AND THAT UTILIZING ORGANOID PHENOTYPES VALIDATED IN PATIENT-DERIVED CELL LINES CARRYING CLINICALLY-RELEVANT MUTATIONS WILL ENSURE IDENTIFICATION OF POTENTIAL DRUG CANDIDATES. THIS APPROACH IS IN LINE WITH THE CURRENT INDUSTRY STANDARDS FOR DEVELOPMENT OF THE HIGH-THROUGHPUT SCREENING ASSAYS. THESE DRUG CANDIDATES (HITS) WILL BE FURTHER VALIDATED IN A NUMBER OF IN VITRO AND IN VIVO ASSAYS TO VALIDATE PRECLINICAL EFFICACY AND PROVIDE MORE MECHANISTIC INSIGHT.
    Geographies
    Not indicated
    Dates
    Jan 1, 2024 – Dec 31, 2024
    Source
    990
    No causes provided
    No populations provided
    –
    $50K

  • Program 2 [2024]

    FUNCTIONAL RESTORATION OF FOXP1 HAPLOINSUFFICIENCY USING AAV-MEDIATED GENE RESCUE IN THE BRAIN-UNDERSTANDING FOXP1 FUNCTION IN THE MOUSE BRAIN IS CRUCIAL TO DEVELOP EFFECTIVE THERAPEUTICS FOR FOXP1 SYNDROME IN HUMANS. IN THIS PROJECT, WE WILL USE A MOUSE MODEL THAT MIMICS THE GENETIC BASIS OF MANY FORMS OF FOXP1 SYNDROME, WHERE ONLY ONE OUT OF THE TWO FUNCTIONAL COPIES OF FOXP1 GENE IS PRESENT. WE WILL PERFORM INTRACEREBROVENTRICULAR (ICV) INJECTIONS OF A UNIQUE ADENO ASSOCIATED VIRUS (AAV) CALLED AAV9 AND/OR ITS MODIFIED AND IMPROVISED VERSION (AAV-PHP.EB) AT AN EARLY DEVELOPMENTAL STAGE TO RESTORE FOXP1 EXPRESSION IN THE BRAINS OF THESE MICE. IN THIS STRATEGY, FOXP1 WILL BE RE-EXPRESSED UNDER THE CONTROL OF THE HUMAN SYNAPSIN 1 PROMOTER, ENSURING NEURON SPECIFIC EXPRESSION. WE WILL THEN EXAMINE WHETHER FOXP1 GENE REPLACEMENT CAN CORRECT BEHAVIORAL DEFICITS IN THE MICE. IF SUCCESSFUL, WE WILL EXTEND THE GENE RESTORATION TO LATER DEVELOPMENTAL TIME POINTS TO DETERMINE A POTENTIAL CRITICAL WINDOW OF GENE REPLACEMENT THERAPY IN THIS MOUSE MODEL. RESULTS FROM THIS PROJECT SHOULD PROVIDE FUNDAMENTAL KNOWLEDGE ABOUT THE FEASIBILITY OF FOXP1 GENE THERAPY IN HUMANS AND FORM THE BASIS FOR FUTURE CLINICAL TRIALS.
    Geographies
    Not indicated
    Dates
    Jan 1, 2024 – Dec 31, 2024
    Source
    990
    No causes provided
    No populations provided
    –
    $73.3K