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Nova Mentis is launching a clinical study in the U.S. to assess the diversity of gut microbiome — the community of microbes living in the gut — in people with autism spectrum disorder (ASD), including fragile X syndrome, the company announced. The research is intended to help…
The fragile X mental retardation protein (FMRP) — missing or at low levels in people with fragile X syndrome — plays a key role in regulating chronic visceral pain, according to a study. Insufficient FMRP might explain some of the self-injurious behavior seen among people with fragile X syndrome.
Sibs, a U.K. charity that supports siblings of all ages who have a brother or sister with disability, has presented several resources for siblings of children with fragile X syndrome. Last month, the charity hosted an online workshop for parents in the fragile X community; the theme was “Supporting…
Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
Treatment with istradefylline — an approved therapy for Parkinson’s disease — normalized several molecular and functional nerve cell features of fragile X syndrome and improved cognitive skills in a mouse model of the disease, a study shows. The therapy, sold by Kyowa Hakko Kirin Pharma under the brand name …
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
Nova Mentis is expanding its preclinical pipeline to test a psychedelic treatment known as PLZ-1013 in an animal model of fragile X syndrome. The psychedelic compound, psilocybin, is being investigated as a potential behavioral therapy for fragile X. Researchers at the Canada-based company are collaborating with…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
Among people with a so-called premutation in the FMR1 gene, the key gene in fragile X syndrome, males show a faster progression of motor impairments than do females, a study found. The pattern and distribution of brain lesions was also seen to differ by sex, possibly explaining why female premutation carriers…
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, a study shows. In addition, these mitochondrial abnormalities were associated with lower levels of mitochondrial components inside small fatty…
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