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February 12, 2021February 12, 2021

Mitochondrial Dysfunction in Neuron-supporting Cells May Lead to Fragile X

News

The function and components of mitochondria — the cells’ powerhouses — are significantly reduced in the cerebral cortex and in neuron-supporting cells of a mouse model of fragile X syndrome, ... Read more

February 11, 2021February 11, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

News, syndicated

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more

February 9, 2021February 9, 2021

Fragile X Premutation Registry Opens to Eligible Adults Worldwide

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The International Fragile X Premutation Registry, built to facilitate research into disorders caused by “premutations” in the FMR1 gene, has launched globally and is inviting carriers of these mutations or relatives ... Read more

February 5, 2021February 5, 2021

Clues to Treating Fragile X Come From Altered Gene Regulation Process

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Alterations in a genetic quality control mechanism due to loss of FMRP — fully known as fragile X mental retardation protein — may provide clues as to how healthy function ... Read more

February 2, 2021February 2, 2021

Women With Fragile X Premutations at Risk for Autistic Traits, Anxiety

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Women carrying so-called premutations in FMR1, the gene associated with fragile X syndrome, are at risk of developing autistic traits and anxiety, according to a new study in the U.K. Premutation ... Read more

January 29, 2021February 1, 2021

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

News, syndicated

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs ... Read more

January 28, 2021January 28, 2021

COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say

News, syndicated

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to ... Read more

January 26, 2021January 26, 2021

Anticonvulsant Shows Promise at Treating Fragile X in Mouse Model

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The anticonvulsant carbamazepine can normalize behavior and memory in a mouse model of fragile X syndrome (FXS), suggesting that this medication might be re-purposed to treat people with this disorder, ... Read more

January 22, 2021January 22, 2021

Lower Brain Levels of mGluR5 Receptor Found in Fragile X Men

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Brain scans in men with fragile X syndrome showed reduced levels of the mGluR5 receptor — a protein receptor known to help regulate nerve cell communication — compared with healthy ... Read more

January 20, 2021January 20, 2021

Art Contest Salutes Creativity of Rare Disease Communities

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Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare ... Read more