With a $90,000 grant from FRAXA Research Foundation over two years, Drs. Olivier Manzoni and Daniela Neuhofer researched the relationship between Fragile X syndrome and the areas of the brain that are involved in reward processing, regulation of emotional behavior and emotional memory as well as attention, planning and working memory.
Read moreFRAXA Research Grants
As the pace of Fragile X research accelerates, FRAXA research teams are leading the way.
The research we fund spans the spectrum of basic science, pre-clinical, and clinical research — all coordinated to make the most of each dollar. We develop many treatment strategies in parallel, since success is never certain when developing a drug. We continue to fund research to define the precise defect in the Fragile X brain, because these studies may yield additional important treatment targets.
Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors
FRAXA Awards $50,000 in 2011 and $50,000 in 2010 to Patricia Cogram, PhD for treatment of Fragile X syndrome via Dopamine Enhancers and Glutamate Inhibitors. This project aims to follow up our and others observations that the dopamine receptor is under expressed in the Fragile X syndrome and thus determine the effectiveness of targeted pharmacological treatments in Fragile X syndrome.
Read moreEffects of minocycline on vocal production and auditory processing in a mouse model of Fragile X
With $135,000 in grants from FRAXA Research Foundation over several years, Dr. Khaleel Razak and Dr. Iryna Ethell explored robust biomarkers relevant to the FXS and the efficacy of minocycline treatment.
Read moreDeveloping IPS cells to Screen Drugs which can Reactivate the FMR1 Gene
With $146,000 grant from FRAXA Research Foundation over 2012-2013, Drs. Anita Bhattacharyya and Xinyu Zhao at the University of Wisconsin developed a new mouse model of Fragile X syndrome which will enable testing of gene reactivation and gene therapy approaches to treatment. They transplanted human Fragile X neural cells differentiated from induced pluripotent stem cells into brains of neonatal mice and then testing for FMR1 reactivation. In 2015, The John Merck Fund assumed support for this work with a generous grant of $750,000 to the scientists. Results published.
Read moreTargeting mGluR-LTD to Treat Fragile X Syndrome
With grants from FRAXA Research Foundation from 2000-2010, Dr. Kimberly Huber and her team at the University of Texas conducted several studies on the relationship between mGluR5 and Fragile X syndrome. Dr. Huber made the original discovery of the mGluR Theory of Fragile X when she was a postdoctoral fellow in the lab of Dr. Mark Bear, with her first FRAXA grant in 2000.
Read morePreclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome
With a $66,000 grant from FRAXA Research Foundation in 2013, Dr. Lucia Ciranna and her team from the Universita di Catania tested if specific serotonins could reverse abnormal phentotypes found in Fragile X syndrome.
Read moreSmall Rho GTPases, a Potential Therapeutic Target for Fragile X Syndrome
With $384,345 in grants from FRAXA Research Foundation, Dr. MariVi Tejada from the University of Houston focused on a particularly promising point of intervention in pathways of brain receptors, and tested several potential therapeutic compounds in an attempt to rescue function in the mouse model of Fragile X.
Read moreEvaluation of CamKII Dependent Regulation of mGluR5-Homer Scaffolds as a Potential Therapeutic for Fragile X Syndrome
With a $90,000 grant from FRAXA Research Foundation, Dr. Kimberly Huber and Dr. Weirui Guo at the University of Texas at Southwestern investigated the roles of Homer and CaMKII in Fragile X syndrome.
Read moreA Developmental Switch Exists in the Effects of FMRP
With a $90,00 grant from FRAXA Research Foundation for 2010-2011, Dr. Kimberly Huber and her team at the University of Texas at Southwestern found that there is a developmental switch of postsynaptic FMRP on synaptic function. This switch is controlled by MEF2 transcriptional activity. Proper synapse maturation and elimination is crucial for the establishment of appropriate neural circuits that underlie sensory processing and cognition. Neuron of Fragile X patients as well as in the mouse model of Fragile X, Fmr1 KO mice, display more dendritic spines, the point of contact for excitatory synapses, as well as long and thin filopodia resembling immature spines. This suggests Fragile X mental retardation protein (FMRP) has a role in promoting synapse maturation and elimination.
Read moreAb-Mediated Translation in Fragile X Syndrome
With a $120,000 grant from FRAXA Research Foundation during 2011-2012, Dr. Cara Westmark at the University of Wisconsin explored the role of AbPP as a potential treatment option for fragile X. AbPP produces b-amyloid which is over-expressed in Alzheimer’s disease (AD) and Down syndrome.
Read moreSynaptic Actin Signaling Pathways in Fragile X
With a $163,356 grant from FRAXA Research Foundation in 2010-12, Dr. Scott Soderling and Dr. Hwan Kim at Duke University bred the standard mouse model of Fragile X syndrome to their lines of mice that express reduced levels of several key proteins that modulate synaptic actin. These compound mutant mice were compared to FXS mice to determine if genetically impairing pathways to the actin cytoskeleton can rescue deficits in the FXS mice.
Read moreGenetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value
With a $90,000 grant from the FRAXA Research Foundation, Dr. Gary Bassell and his team at Emory University explored the PI3K/mTOR signaling complex in FXS via genetic and pharmacologic rescue approaches, to reduce the enzymatic function of specific components of this complex pathway in an FXS mouse model.
Read moreReward Function in Fragile X Syndrome
With a $82,500 grant from FRAXA Research Foundation in 2011-2012, Dr. Christopher Cowan and Dr. Laura Smith explored the role of specific signaling pathways in drug-related behavioral deficits, including determining the role, if any, of known impairments in the Fragile X brain.
Read moreA Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse
Dr. Davidovic has been examining changes in metabolism in various brain regions that are affected in Fragile X patients. She has defined a brain-specific metabolic signature of FXS and is testing treatment strategies to restore normal levels of these metabolites.
Read moreInherited Channelopathies in Cortical Circuits of Fmr1 KO Mice
With this two year award of $90,000, Dr. Zhang and Principal Investigator Dr. Andreas Frick at Neurocentre Magendie in France investigated channelopathies using Fragile X mice. Many other proteins are misregulated as a result of the absence of FMRP. It is known that many ion channels, the pores in the cell membrane which allow neurons to conduct electrical impulses, have altered levels in Fragile X. This state is sometime called a “channelopathy” in the pharma world. This group is studying the effect of specific alterations in ion channels, and potential therapeutic effects of drugs which open and close these channels.
Read moreIn Vitro Coherent Network Activity
With a $90,000 grant from FRAXA Research Foundation from 2011-2012, Dr. Juan Bacigalupo at the University of Chile studied the abnormal network dynamics of the brain in Fragile X mice to provide information for future therapeutic drug screening.
Read moreRole of JNK in FMRP Regulated Translation in Fragile X Syndrome
With a $90,000 grant from FRAXA Research Foundation over 2 years, Dr. Michael Wilhelm and his team at the University of Wisconsin studied a protein known as JNK, which is observed to be abnormally regulated in Fragile X. Like FMRP, it is involved in regulating dendritic protein synthesis, and so it may be a target for drug therapy in Fragile X.
Read moreSerotonergic Rescue of Synaptic Plasticity in FMR1 Knockout Mice
With $306,000 in grants from FRAXA Research Foundation, Dr. Julius Zhu from the University of Virginia examined the effects of several drugs such as Buspar and Abilify which manipulate specific serotonin receptors and the effect that has on synaptic plasticity (LTP and LTD).
Read moreEfficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila
With a $112,250 grant from FRAXA Research Foundation over 3 years, Dr. Efthimios Skoulakis and his team from the Institute of Cellular and Developmental Biology conducted the first FRAXA project in Greece, where they developed a speedy new test for learning problems in fruit flies, which allowed them to test a number of drugs that are potential Fragile X treatments.
Read moreChannelopathies: Altered Ion Channels in Fragile X Syndrome
With a $95,000 grant from FRAXA Research Foundation from 2010-2011, Dr. Daniel Johnston and Dr. Darrin Brager at the University of Texas at Austin investigated alterations in ion channels in Fragile X syndrome. They explored potential therapeutic effects of drugs which open and close these channels. Results published.
Read moreRole of Excessive Protein Synthesis in the Ontogeny of FXS
With a $90,000 grant from FRAXA Research Foundation in 2010-2011, Dr. Mark Bear and Dr. Miquel Bosch tested the simple hypothesis that the excessive rate of protein synthesis is not a consequence but the primary cause of the structural alterations occurring in Fragile X syndrome.
Read moreAltered Dendritic Synthesis of Postsynaptic Scaffold Protein Shank1 in Fragile X Syndrome
With a $106,800 grant from FRAXA Research Foundation over 2 years, Drs. Stephan Kindler and Hans-Jurgen Kreieinkamp studied a protein, Shank1, which is overabundant in Fragile X syndrome.
Read moreClinical Trials Outcome Measures
With $281,824 in funding from FRAXA Research Foundation from 2002-2011, Dr. Berry-Kravis at the Rush University Medical Center attempted to validate a new automated video tracking system for quantifying physical activity as an outcome measure for Fragile X clinical trials.
Read moreManipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice
With a $90,000 grant from FRAXA Research Foundation, Dr. Hongbing Wang’s team from Michigan State University looked at a treatment target “downstream” of the mGluR5 called cyclic AMP (cAMP). Levels of cAMP are lower in FXS patients and animal models, suggesting that it plays a role in FXS. Drugs that raise levels of cAMP may effectively treat Fragile X. We are very pleased to report that, in 2012, Dr. Wang received a 5-year, $250,000 per year R01 grant from NIH to continue this promising research.
Read moreGABAergic Inhibitory Function in Fragile X Syndrome
With a $100,000 grant from FRAXA Research Foundation, Drs. Joshua Corbin and Molly Huntsman from the Children’s National Medical Center examined the role of a particular class of brain cells (inhibitory interneurons) that dampen excessive activity in the “emotional center of the brain” (the amydala). This inhibition is deficient in Fragile X, and so they are looking for ways to remedy this. This is particularly interesting to parents of children who are overly anxious and emotional. They worked with Dr. Walter Kaufmann, a clinician at Kennedy Krieger Institute in Maryland.
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