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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 Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

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 impairments, suggesting that these specific therapies could be used to treat them. The study, “Impaired perceptual learning in a mouse…

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 trials to test if this statin might help people with the…

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 X-associated tremor/ataxia syndrome, a small study suggests. The study, “Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in…

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 X syndrome, a mouse study shows. These findings expand knowledge on the underlying mechanisms behind this rare genetic disease, and…

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 behaviors in mice with fragile X syndrome. These findings highlight Kv1.2 as a potential therapeutic target for fragile X.

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 Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

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 that still need to be overcome, according to a review study. In the study, “Induced pluripotent stem…

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, “Regulation of IL-6 Secretion by Astrocytes via TLR4 in the Fragile X Mouse Model,” appeared in the…

New interactions involving the FMRP and p53 proteins were found to play an important part in neural defects associated with fragile X syndrome, a new mouse study shows. The study, “Dysregulation and restoration of homeostatic network…