With a $90,000 grant from FRAXA Research Foundation funded during 2014-2015, Dr. Frank Kooy and colleagues at the University of Antwerp are conducting a double blind crossover trial of ganaxolone in patients with fragile X syndrome. Results of this study were mixed (see Marinus: Results from Phase 2 Exploratory Clinical Study Support Continued Development of Ganaxolone in 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. Dr. Huber has received $474,300 in grants from FRAXA Research Foundation since then, researching molecular mechanisms and developmental switches in fragile X syndrome. She has worked with 4 FRAXA Postdoctoral Fellows (Elena Nosyreva, PhD in 2006; Jennifer Roseni, PhD in 2007; Tong Zang, PhD in 2010-2011; and Weirui Guo, PhD in 2012-2013) and has received supporting funds from The Meadows Foundation of/for Texas.
With a $304,000 grant from FRAXA Research Foundation over several years, Drs. Oostra and deVrij from Erasmus University studied miRNA and fragile X. miRNAs are RNAs that can repress the translation of target mRNAs – therefore they can play a role in protein synthesis within the neuron. Preliminary results showed large differences in miRNA expression in the fragile X mouse brain compared to the wild type. This lab investigated the effect of mGluR5 antagonists on the levels of these specific miRNAs.
With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of fragile X. The Warren lab made the original discovery of the fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from fragile X patients, and determination of other forms of mutation in the fragile X gene, other than the most common trinucleotide repeat expansion.
With more than $1,000,000 from FRAXA Research Foundation over 13 years, Drs. William Greenough and Ivan-Jeanne Weiler at the University of Illinois uncovered the role of FMRP at synapses, leading to much of the subsequent research on fragile X syndrome.
With a $178,500 grant from FRAXA Research Foundation from 1998-2008, Dr. Robert Denman and his team at the New York State Institute for Basic Research studied protein splicing, specifically looking at exon 15-encoded residues of of FMPR.
With a $229,000 grant from FRAXA Research Foundation in 2006, Drs. Richard Paylor, David Albeck, and Francis Brennan at the Baylor College of Medicine found that, in mice as in humans, the level of fragile X protein in brain cells plays a prominent role in determining levels of activity and anxiety.
With $736,000 in grants from FRAXA Research Foundation over 2000-2007, Dr. Robert Bauchwitz at Columbia University developed 15 transgenic mouse models of fragile X syndrome, using them to evaluate a range of experimental treatments. Results published.