European Initiative Targets Diagnosis, Treatment of Rare Diseases
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 ... Read more
Updates
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Social Avoidance in Infancy Predicts Autism Severity in Boys with Fragile X Syndrome, Study Says
Boys with fragile X syndrome who show high levels of social avoidance in infancy are more likely later to have increased severity in autism ... Read more -
Report: Hummingbird Sign Links FXTAS, Progressive Supranuclear Palsy
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 ... Read more -
Alzheimer’s Therapy, Donepezil, Seen to Lessen Arousal of Cognitive Brain Area in Fragile X Patients in Study
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 ... Read more -
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
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 ... Read more
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Hyper-Excited Neurons Disrupt Perception in Fragile X Syndrome, Fruit Fly Study Suggests
Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce ... -
Restoring FMR1 Activity and Protein Production in Cells May Be Possible, Early Study Says
Restoring activity to the FMR1 gene — which is silenced in fragile X— using ... -
NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ... -
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ... -
Long Noncoding RNAs May Be New Target for Diagnosis, Treatment of Fragile X Spectrum Disorders
Long noncoding RNAs (lncRNAs) — long RNA molecules that do not provide instructions to ... -
Social Avoidance Behaviors Emerge in Infancy, Increase During Childhood, Study Finds
Social avoidance, a common behavior among boys with fragile X syndrome, emerges during infancy, ...
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Rapamycin Treatment Failed to Improve Fragile X Behavioral Symptoms in Mouse Study
News
An older existing medication that targets a pathway thought to be involved in fragile X syndrome failed to reverse any behavioral characteristics in mouse models of the disease, and was found to further compromise social skills in the mice. ... Read more