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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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