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July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of ... Read more

July 16, 2019July 16, 2019

Social Avoidance in Infancy Predicts Autism Severity in Boys with Fragile X Syndrome, Study Says

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Boys with fragile X syndrome who show high levels of social avoidance in infancy are more likely later to have increased severity in autism spectrum disorder symptoms but reduced ... Read more

July 11, 2019July 11, 2019

Report: Hummingbird Sign Links FXTAS, Progressive Supranuclear Palsy

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Midbrain atrophy, commonly referred to as the hummingbird or penguin sign, can be a manifestation of fragile X-associated tremor/ataxia syndrome (FXTAS) and can mimic progressive supranuclear palsy, a case report ... Read more

July 9, 2019July 9, 2019

Alzheimer’s Therapy, Donepezil, Seen to Lessen Arousal of Cognitive Brain Area in Fragile X Patients in Study

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Treatment with the Alzheimer’s therapy donepezil reduced brain activation in response to a gaze stimulus, but did not directly improve cognition or correct abnormal behavior in patients with fragile ... Read more

July 5, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

July 2, 2019July 2, 2019

Hyper-Excited Neurons Disrupt Perception in Fragile X Syndrome, Fruit Fly Study Suggests

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Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce the load of inhibitory signals in the brain, resulting in “noise” that halts the ability ... Read more

June 27, 2019June 27, 2019

Restoring FMR1 Activity and Protein Production in Cells May Be Possible, Early Study Says

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Restoring activity to the FMR1 gene — which is silenced in fragile X— using modulators that work to “turn on” gene expression and allow protein production to begin again ... Read more

June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 20, 2019June 20, 2019

Long Noncoding RNAs May Be New Target for Diagnosis, Treatment of Fragile X Spectrum Disorders

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Long noncoding RNAs (lncRNAs) — long RNA molecules that do not provide instructions to make proteins and are thought to be involved in gene regulation — may become a ... Read more

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