- Fragile X-associated Disorders
- Treatment & Intervention
- Support the NFXF
In addition to supporting research since 1984 through our international conference series, our Rosen Research Funding of Summer Student Fellowships, our Conquer Fragile X Young Investigator events and our public policy efforts in Washington, DC, (advocating on behalf of Federal investments in Fragile X research at the NIH, CDC and the Dept. of Defense) the NFXF has been providing direct grants to researchers since 2003. All funding is approved by our Scientific & Clinical Advisory Committee. Many NFXF grants have been used as seed money to collect preliminary data needed for applications to government funding sources. Most of the research that the NFXF has funded has resulted in publication by peer-reviewed journals – an important standard and objective for all researchers.
Following are descriptions of our previously funded research. Whenever available, links to publications resulting from NFXF-funded research are noted.
Longitudinal Outcomes and Neuroimaging of Fragile X Syndrome + Neurodevelopmental Profiles of Infants and Preschool Age Children with Fragile X Syndrome By Aubrey Rho, Stanford University School of Medicine Mentors: Amy Lightbody, PhD and Allan Reiss, MD Last summer I worked as an undergraduate student research assistant in the Center for Interdisciplinary Brain Sciences Research (CIBSR) at Stanford University. I worked on two ongoing projects focused on improving our understanding of fragile X syndrome (FXS). The first was a longitudinal study tracking the cognitive, behavioral, and neurophysiological development of individuals with FXS. The study is currently in its third period of data... » FULL ARTICLE
Analysis of Ovaries from FMR1 CGG Repeat Mice Research Summary: National Fragile X Foundation – Translational Research Grant Renate Hukema PhD - $50,000 Erasmus MC, The Netherlands SPECIFIC AIMS: The CGG repeat sequence located in the 5’ untranslated region (UTR) of the Fmr1 gene leads to three major clinical phenotypes: 1) Fragile X syndrome (FXS), 2) ovarian insufficiency (FXPOI), and 3) fragile X-associated tremor/ataxia syndrome (FXTAS). The expression of each phenotype depends on the size of the repeat expansions and the consequent molecular outcome. In this project, we will focus on premutation associated ovarian insufficiency. Using the molecular mechanism established for FXTAS... » FULL ARTICLE
Research Summary: National Fragile X Foundation – Translational Research Grant Len Abbeduto PhD - $75,000 University of Wisconsin – UC Davis M.I.N.D. Institute SPECIFIC AIMS: The proposed project is designed to gather preliminary data on the efficacy of a parent-mediated language intervention for young, minimally verbal children diagnosed with fragile X syndrome (FXS). These preliminary data will serve as the basis for an application for a larger evaluation study to be submitted to the NIH. The intervention will entail teaching mothers to use responsive verbal interaction strategies with their affected children during everyday routines and play activities. Maternal verbal responsiveness in naturally... » FULL ARTICLE
Research Summary: National Fragile X Foundation – Translational Research Grant Randi Hagerman MD - $100,000 UC Davis MIND Institute This project will study the efficacy of the antibiotic drug minocycline for children ages 4 to 16 years who have fragile X syndrome (FXS). Dr. Hagerman believes the study will provide sufficient data to submit a large multi-center controlled trial of minocycline that could involve many of the centers associated with the Fragile X Clinical & Research Consortium. Advances in understanding the molecular biology of FXS have led to new targeted treatments that have the potential to reverse the central nervous system abnormalities in the... » FULL ARTICLE
Research Summary: National Fragile X Foundation – Conquer Fragile X Basic Science Grant Christina Gross PhD - $30,000 Emory University School of Medicine Signal transmission in the brains of FXS patients is severely impaired. This can lead to neuronal and mental dysfunctions as well as epilepsy and autistic-like behavior. During my previous two years of research funded by the NFXF, I discovered, in experiments with mice (the “mouse model for FXS”), that activity of a key component in the transmission of nerve signals is “dysregulated” (deficient). My results suggest that the Fragile X Mental Retardation Protein (FMRP) regulates the synthesis and the activity... » FULL ARTICLE