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Latest FMR1 Stories

2010-08-11 13:45:44

Researchers at Emory University School of Medicine have identified a potential new strategy for treating fragile X syndrome, the most common inherited cause of intellectual disability. The researchers have found that a class of drugs called phosphoinositide-3 (PI3) kinase inhibitors can correct defects in the anatomy of neurons seen in a mouse model of fragile X syndrome. In experiments with cultured neurons from the hippocampus, a brain region involved in learning and memory, the drugs could...

2010-07-28 12:18:00

MADISON, N.J., July 28 /PRNewswire/ -- An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism. XSense®, Fragile X with Reflex, from Quest Diagnostics Incorporated (NYSE: DGX), the...

2010-05-07 13:53:10

Fragile X syndrome iPS cells and embryonic stem cells behave differently In the last three years, a new technique for reprogramming adult cells has given scientists an easier and less controversial way to harness the power of embryonic-like stem cells to study human disease from its earliest beginnings in hopes of gleaning new insights into the root causes of disease and developing new therapies. But the reprogrammed cells, known as induced pluripotent stem (iPS) cells, are different from...

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2010-05-04 08:14:51

These results, from the first longitudinal brain imaging studies of children with fragile X syndrome, were published online in this week's early edition of the Proceedings of the National Academy of Sciences Brain changes associated with the most common cause of mental retardation can be seen in magnetic resonance imaging (MRI) scans of children as young as one to three years old, according to a study by researchers at the University of North Carolina at Chapel Hill and Stanford University....

2010-04-09 07:45:16

Geneticists have known for two decades that fragile X syndrome, the most common inherited cause of intellectual disability, is due to the functional loss of fragile X mental retardation protein (FMRP) in the brain. Now they are beginning to understand how FMRP regulates signaling pathways in the brain that are essential for learning and memory in adults. Researchers at Emory University School of Medicine and the University of New Mexico School of Medicine have described new discoveries about...

2010-02-11 16:42:07

Scientists find sensory cortex develops late in fragile X syndrome defect Why do people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch "“ even from their parents? New research has found in fragile X syndrome there is delayed development of the sensory cortex, the part of the brain that responds to touch, according to a study from Northwestern University Feinberg School of Medicine....

2010-02-11 11:31:05

New research provides insight into why fragile X syndrome, the most common known cause of autism and mental retardation, is associated with an extreme hypersensitivity to sounds, touch, smells, and visual stimuli that causes sensory overload and results in social withdrawal, hyperarousal, and anxiety. The study, published by Cell Press in the February 11 issue of the journal Neuron, uncovers a previously unknown developmental delay in a critical brain circuit that processes sensory...

2009-12-08 09:00:00

WALNUT CREEK, Calif., Dec. 8 /PRNewswire/ -- The National Fragile X Foundation has awarded a translational research seed grant of $100,000 to Dr. Randi J. Hagerman at the UC Davis M.I.N.D. Institute in California for a study of minocycline in the treatment of children with fragile X syndrome (FXS). Hagerman is an internationally recognized clinician and clinical researcher on FXS, the most common cause of inherited mental impairment. The two-year study will evaluate the efficacy of...

2009-11-02 15:05:00

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability. There has to date been no medication that could alter the disorder's neurologic abnormalities. The study will evaluate safety, tolerability, and optimal dosage in healthy volunteers. The work is the outcome of basic research...

2009-10-23 13:56:38

A novel protein structure involved in hereditary neurodegeneration Fragile X tremor/ataxia syndrome (FXTAS) is a recently recognized condition, which is actually one of the most prevalent heritable neurodegenerative diseases. It is assumed that the condition is caused by deficiency for the protein Pur-alpha, which is essential for normal neural function. Structural studies undertaken by a team under the leadership of Dr. Dierk Niessing of the Helmholtz Zentrum Mnchen and the Gene Center at...


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.