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…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
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