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Pesquisar

Atualent Projetos

 

Centros de pesquisa em todo o mundo estãoiniciando projetospara entender melhor aspectos específicos do gene FOXP1 e como ogenético mutações afetam aquelescom Síndrome FOXP1. A pesquisa precisa da participação dos pais de crianças com a síndrome para contribuir com relatórios genéticos, histórico médico e marcos de desenvolvimento de seus filhos. Com contribuições de muitas famílias FOXP1, os pesquisadores poderão analisar os dados e publicar suas descobertas com o objetivo de identificando traços e características únicas do nosso chicrianças.  

Os seguintes projetos de pesquisa estão atualmente em andamento. Eles solicitam seu apoio e contribuição de informações. Muitos dos projetos procuram raposas mais velhas para construir sua base de conhecimento. A Fundação Internacional FOXP1 endossou esses projetos.

Se você quiser que a comunidade FOXP1 tparticiparem seu estudo de pesquisa, preencha o "Formulário de solicitação de participação" encontradoaqui.

~A pesquisa é como nósconstruiro conhecimento do FOXP1Síndrome ~

Joseph Buxbaum, Seaver Autism Institute, Mt. Sinai Hospital

Three-dimensional Organoid Model of FOXP1 Syndrome ($50,000)

 

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  n vitro and in vivo assays to validate preclinical efficacy and provide more mechanistic insight.

Genevieve Konopka and Jay Gibson

Functional restoration of FOXP1 haploinsufficiency using AAV-mediated gene rescue in the brain ($73,274)

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.

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