News

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…

The International Fragile X Premutation Registry, built to facilitate research into disorders caused by “premutations” in the FMR1 gene, has launched globally and is inviting carriers of these mutations or relatives of fragile X patients to join. Opened last year in the United States by the UC Davis MIND Institute and…

Alterations in a genetic quality control mechanism due to loss of FMRP — fully known as fragile X mental retardation protein — may provide clues as to how healthy function might be restored to cells affected by fragile X syndrome. The study detailing this finding, “Loss…

Women carrying so-called premutations in FMR1, the gene associated with fragile X syndrome, are at risk of developing autistic traits and anxiety, according to a new study in the U.K. Premutation carriers have an expansion of three nucleotides — the building blocks of DNA — in the FMR1 gene. This…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

The anticonvulsant carbamazepine can normalize behavior and memory in a mouse model of fragile X syndrome (FXS), suggesting that this medication might be re-purposed to treat people with this disorder, according to a study. The study, “Carbamazepine Restores Neuronal Signaling, Protein Synthesis, and Cognitive Function…

Brain scans in men with fragile X syndrome showed reduced levels of the mGluR5 receptor — a protein receptor known to help regulate nerve cell communication — compared with healthy men, a pilot study found.  These findings may help explain the failure of…

Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…