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

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

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.

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Cornell University Researcher Looks to Restore Fragile X Protein in Neurons

Cornell University Researcher Looks to Restore Fragile X Protein in Neurons
Cornell University researcher Samie R. Jaffrey, MD, PhD and Postdoctoral Fellow Jiahui Wu, PhD were awarded $90,000 by over 2016-2018 by FRAXA for their project, Which is the right FMRP for Therapeutic Development of Fragile X Syndrome? Here's the Rub 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? Will FMRP protein be created in the correct quantity and location to work as a therapeutic? In anticipationRead more

Scientists Uncover Trigger for Fragile X Syndrome

Scientists Uncover Trigger for Fragile X Syndrome
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

Genome-wide Epigenetic Markers in Fragile X

Genome-wide Epigenetic Markers in Fragile X

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.

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

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

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.

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