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Following are brief articles, reports, summaries, overviews and commentaries of research related to Fragile X-associated Disorders. The National Fragile X Foundation posts content only from reputable researchers or research institutions. In cases where summaries or overviews are provided, they are written for the NFXF by members of our Scientific & Clinical Advisory Committee or other members of the Fragile X research community. These are designed to acquaint the reader with the latest research information while providing a balanced assessment of its relevance to the treatment and eventual cure expected for Fragile X. Whenever possible, we will provide a link to a more detailed source of information for those who wish to understand the more technical aspects of the research findings. Commentary and opinion pieces are included whenever we feel they add to the thoughtful discussion and greater understanding of research.
The National Institutes of Health has awarded a major grant to conduct a clinical trial on iPad Assisted Language Development. An Autism Speaks funded study reported encouraging findings on the effectiveness of using speech generating devices to encourage speaking in minimally verbal children ages 5 to 8 with autism. The findings have created excited interest
We are studying an experimental medication for fragile X syndrome in children and adolescents. We hope to learn if this experimental medication is safe, how well your body manages the medication (tolerability), how much medication is in your body (pharmacokinetics) and if it works on symptoms of Fragile X Syndrome. Children and adolescents with Fragile X Syndrome (between 5 and 17 years of age) may participate. Costs for travel,
Contact: Mark Derewicz email@example.com (919) 923-0959 University of North Carolina Health Care CHAPEL HILL, N.C. – When you experience something, neurons in the brain send chemical signals called neurotransmitters across synapses to receptors on other neurons. How well that process unfolds determines how you comprehend the experience and what behaviors might follow. In people with fragile X syndrome, a third of whom are eventually diagnosed with Autism Spectrum Disorder, that process is severely hindered,
Scientists at UMass Medical School have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease. This provides researchers with a new
A recent study by Brenda Finucane of the Geisinger Health System and her colleagues reveals that many educators and therapists still know little about fragile X syndrome (FXS). Brenda Finucane is an NFXF Scientific & Clinical Advisory Committee member and genetic counseling consultant. The researchers surveyed 439 professionals in the field of autism to assess their knowledge and perceptions about FXS and related issues. Even though almost half had worked with at least
. . . Read More: Study Shows Professionals Still Have Much to Learn About Fragile X
The gene and protein responsible for causing fragile X syndrome emerges as a leading candidate in the search for the cause of autism and maybe even schizophrenia.
. . . Read More: All Genes Are Not Created Equal
New SAGE Therapeutics chief executive Jeffrey Jonas will oversee the company’s drug development program for fragile X syndrome, which last month received a grant worth up to $10 million from the National Institutes of Health.
. . . Read More: Fragile X Drug Developer SAGE Therapeutics Names New Chief Executive
We reached out to Elizabeth Berry-Kravis, MD, PhD member of the Scientific and Clinical Advisory Committee regarding the NIH's new Neurological Drug Development Project with SAGE Therapeutics. She says, "This funding is to develop a drug that works to increase activity at GABA-A receptors which there is some data to suggest have reduced activity in the brain of the fragile X mouse (GABA-A is different than the one arbaclofen works on which is GABA-B.)
. . . Read More: Commentary on SAGE Therapeutics Grant to Study Fragile X Syndrome
The Waisman Center at the University of Wisconsin-Madison is recruiting boys with fragile X syndrome for a study on language development. Looking For Boys should be between 9 and 16 years of age, and speaking in at least 2-3 word phrases. Purpose The purpose of this research is to better understand how children with FXS use language. The Study Participants will complete standardized
. . . Read More: Research: Language Development in Boys with Fragile X Syndrome
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