Cornell University Archives • Fragile X Research

Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?

FRAXA Research Foundation 2016 Grants • Completed Research Grants • Cornell University • Disease Mechanisms • Gan, Wen-Biao • Jaffrey, Samie • Treatment Targets April 24, 2017March 26, 2019

With a 2-year, $90,000 grant from FRAXA Research Foundation over 2016-17, Dr. Samie Jaffrey at Weill Medical College of Cornell University explored which FMRP isoform is the best target to treat Fragile X syndrome.

Samie Jaffrey, PhD, at Weill Medical College of Cornell University, FRAXA research grant

Cornell University Researcher Looks to Restore Fragile X Protein in Neurons

Theodore Coutilish Cornell University • Research Updates July 8, 2016December 26, 2019NIH

Which is the right FMRP for therapeutic development of Fragile X syndrome? When researchers develop effective drugs that reactivate FMRP — the protein that is normally silenced in Fragile X — what in the world will they do next? So ponders Cornell University researcher Samie R. Jaffrey, MD, PhD. Jaffrey, professor, Pharmacology, Weill Cornell Medical College, Cornell University, knows reactivating FMRP will lead to many important questions, such as: Which cell type needs FMRP? How much FMRP protein is needed to restore brain function? Where in the brain will FMRP protein be needed? Where in a neuron will the FMRP needs to be expressed?

Molecular Mechanisms of Cytoskeletal Regulation by FMRP

FRAXA Research Foundation 2015 Grants • Completed Research Grants • Cornell University • Disease Mechanisms • Jaffrey, Samie • Treatment Targets January 9, 2015December 4, 2019mRNAs

With a 2-year, $120,000 grant from FRAXA Research Foundation in 2015, Dr. Samie Jaffrey from Weill Medical College of Cornell University will research the connection between FMR1, RhoA, and dendritic spine abnormalities.

Scientists Uncover Trigger for Fragile X Syndrome

FRAXA Research Foundation Cornell University • Jaffrey, Samie • Research Updates February 27, 2014August 5, 2021autism, mRNAs, neural stem cells, NIH

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.

Genome-wide Epigenetic Markers in Fragile X

FRAXA Research Foundation 2006-2010 Grants • Completed Research Grants • Cornell University • Disease Mechanisms • Oh, Ji-eun • Toth, Miklos • Treatment Targets February 5, 2009January 16, 2019baclofen, epigenetics, miRNA, sound, startle

With $45,000 in grants from FRAXA Research Foundation over several years, Dr. Miklos Toth of Cornell University studied epigenetics (ie factors other than the gene itself) which can determine symptom severity in Fragile X.

Baclofen: GABA(B) Receptor Supersensitivity and Normalization of Behavioral Abnormalities by Various GABA(B) Agonists Including Baclofen in FMRP Deficient Mice

FRAXA Research Foundation 2001-2005 Grants • 2006-2010 Grants • Completed Research Grants • Cornell University • Disease Mechanisms • Oh, Ji-eun • Toth, Miklos • Treatment Targets October 16, 2006January 16, 2019baclofen, drug combinations, drug tolerance, GABA, seizure, sound, startle

With $110,000 in grants from FRAXA Research Foundation over several years, Dr. Miklos Toth from Cornell University discovered increased startle response in Fragile X mice and that baclofen can correct this phenotype.