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October 11, 2018October 11, 2018

Genome Folded Incorrectly in Fragile X Syndrome, Other Neurological Conditions, Study Finds

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The 3D folding of the genome is distorted in fragile X syndrome and other closely related neurological conditions, according to researchers from the University of Pennsylvania (UPenn). “We’re tremendously ... Read more

October 9, 2018October 9, 2018

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based ... Read more

October 9, 2018October 9, 2018

Irregular Visual Perception in a Mouse Model of Fragile X Syndrome Could be Treated using Designer Therapies

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Visual perception impairments in a mouse model of fragile X syndrome can be therapeutically targeted using designer therapies, according to a new study. People with fragile X demonstrate similar visual ... Read more

October 4, 2018October 4, 2018

Simvastatin Does Not Show Same Brain Benefits for Fragile X as Lovastatin, Study Reports

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Lovastatin, a medication widely prescribed for lowering cholesterol, was recently discovered to correct brain deficits linked with fragile X syndrome in mouse models of the disease. The finding prompted clinical ... Read more

October 2, 2018October 2, 2018

Allopregnanolone May Help Improve Cognitive Function in Fragile X-Associated Tremor/Ataxia Syndrome, Study Suggests

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Weekly infusions with allopregnanolone, a natural brain steroid, for up to 12 weeks may help enhance levels of the GABA neurotransmitter and improve cognitive outcomes in patients with fragile ... Read more

September 27, 2018September 27, 2018

Cellular ‘Cleaning System’ a Possible Therapeutic Target for Fragile X, Mouse Study Finds

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Autophagy, a natural process that acts as a “cleaning system” for cells, plays an important role in regulating the activity of brain cells and cognitive deficits associated with fragile ... Read more

September 25, 2018September 25, 2018

Researchers Identify Potential New Fragile X Therapeutic Target Called Kv1.2

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Researchers have found that increasing the activity of a specific potassium channel called Kv1.2 with an omega-3 fatty acid present in fish oil restores nerve cell function and certain ... Read more

September 21, 2018September 21, 2018

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products ... Read more

September 20, 2018September 20, 2018

Human iPSCs Beneficial for Study of Autism Spectrum Disorders, but Limitations Still Exist, Review Says

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Human induced pluripotent stem cells, also known as iPSCs, are valuable tools for discovering new targets and treatment strategies for several diseases, including autism spectrum disorders, despite some limitations ... Read more

September 19, 2018September 19, 2018

IL-6 Molecule May Be Behind Abnormal Nerve Cell Communication in Fragile X, Study Suggests

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High levels of a pro-inflammatory molecule called interleukin (IL)-6 in the brain could be key to abnormal neuronal communication in fragile X syndrome, a mouse study reports. The study, ... Read more

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