neural stem cells Archives • Fragile X Research

Three-Dimensional Model for Identifying Fragile X Treatments

FRAXA Research Foundation 2018 Grants • Current Research Grants • Emory University • Jin, Peng • Kang, Yunhee • Resources • Treatment Targets • Wen, Zhexing May 16, 2018June 5, 2018iPS, neural stem cells, organoid

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers

FRAXA Research Foundation 2012 Grants • 2013 Grants • 2015 Grants • 2016 Grants • Briault, Sylvain • Completed Research Grant • Pichon, Jacques • Treatment Targets • University of Orleans, France September 12, 2016August 6, 2018autism, BK channel, neural stem cells

With $366,100 in grants from FRAXA Research Foundation, these investigators at the University of Orleans studied sensory abnormalities in Fragile X mice and test the ability of a class of drugs, BK channel openers, to rescue these abnormalities.

Scientists Uncover Trigger for Fragile X Syndrome

FRAXA Research Foundation Cornell University • Jaffrey, Samie • Research Updates February 27, 2014August 3, 2018autism, mRNAs, neural stem cells

Finding May Explain Many Brain Disorders, Lead to Prevention and Treatment adapted from Weill Cornell Medical College press release A new study led by Weill Cornell Medical College scientists shows that Fragile X syndrome occurs because of a mechanism that shuts off the gene associated with the disease. The findings, published today in Science, also show that a compound that blocks this silencing mechanism can prevent Fragile X syndrome – suggesting a similar therapy may be possible for 20 other diseases that range from mental retardation to multisystem failure. While researchers have known for more than two decades that the culprit behind Fragile X is an unusual mutation characterized by the excess repetition of a particular segment of the genetic code, they weren’t sure why the presence of a large number of these repetitions – 200 or more – sets the disease process in motion. Using stem cells from donated human embryos thatRead more

Test-Bed for Screening Drugs which Can Reactivate the FMR1 Gene

FRAXA Research Foundation 2012 Grants • 2013 Grants • Bhattacharyya, Anita • Genetic Rescue • Has Results • Resources • University of Wisconsin • Zhao, Xinyu March 20, 2013October 29, 2019iPS, neural stem cells

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.

Small Molecule Screen Using Fragile X Neural Stem Cells

FRAXA Research Foundation 2006-2010 Grants • Completed Research Grant • Emory University • Jin, Peng • Li, Xuekun • Treatment Targets February 1, 2010January 16, 2019neural stem cells

With a $90,000 grant from FRAXA Research Foundation, Dr. Peng Jin’s team from Emory University School of Medicine found that Fragile X causes an increase production of new cells, so they tested large numbers of drugs to find those that can correct this. This high throughput drug screen uses neural stem cells from Fragile X knockout mice to identify small molecules which may be therapeutic in Fragile X.

Altered Cyclic AMP Signaling in Fragile X

FRAXA Research Foundation 2006-2010 Grants • Bhattacharyya, Anita • Disease Mechanisms • Has Results • University of Wisconsin March 20, 2008October 10, 2019autism, cyclic AMP, neural stem cells

With $125,000 grant from FRAXA Research Foundation over 2006-2008, Dr. Anita Bhattacharyya at the University of Wisconsin Waisman Center investigated abnormalities in cyclic AMP signaling in Fragile X syndrome. Results published.

Splicing Variations of the Fragile X Gene

FRAXA Research Foundation 2001-2005 Grants • 2006-2010 Grants • Completed Research Grant • Disease Mechanisms • Morris, David • University of Washington February 13, 2006December 12, 2019mRNAs, neural stem cells

With an $80,000 grant from FRAXA Research Foundation from 2005-2006, Dr. David Morris and his team at the University of Washington aimed to understand the variation in distribution and function of FMRP isoforms, sought to identify isoforms of FMRP in mouse brain, and define the expression pattern of these versions of the protein.

Generating Human Neurons Carrying the Fragile X Mutation

FRAXA Research Foundation 2001-2005 Grants • Bhattacharyya, Anita • Completed Research Grant • Disease Mechanisms • Svendsen, Clive • Treatment Targets • University of Wisconsin February 26, 2004April 25, 2018neural stem cells

With a $50,000 grant from FRAXA Research Foundation, Dr. Clive Svendsen and his team at the University of Wisconsin grew neural stem cells that expressed the Fragile X mutation to help scientists better understand the gene characteristics.