News

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Mice that lack the gene responsible for fragile X syndrome have similar changes in brain activity in the auditory cortex as those reported in humans. The study with that finding, “Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome,” was published in the journal of Neurobiology…

It’s not every day a Southeast Asian monarchy bestows a $100,000 prize on a U.S. government research agency. In fact, it rarely happens. But this year is different. Thailand’s Prince Mahidol Award Foundation has chosen the National Human Genome Research Institute — a division of the National Institutes of Health (NIH)…

A University of Delaware researcher is helping people with intellectual disabilities overcome the challenges of physical fitness by developing programs specifically geared toward them. For most people, figuring out a standard exercise machine may be simple enough, but for those whose condition causes an intellectual disability, such as fragile…

During Autism Awareness Month in April, the nonprofit FRAXA Research Foundation and shoelace company U-Lace established a new partnership to help fund research for the treatment and cure of fragile X syndrome, the most common inherited cause of autism. The partnership will begin with special marketing programs and the development of custom,…

Children with intellectual disability or autism are more likely to be given antipsychotics than those without such difficulty, and often for reasons that have to do more with behavioral control than a “psychotic disorder,” according to a population-based study. Antipsychotic use is associated with higher-than-usual rates of long-term adverse events…

Investigational therapy BPN14770 has received orphan drug status from the U.S. Food and Drug Administration as a treatment for fragile X syndrome, Tetra Discovery Partners recently announced. BPN14770, a small molecule therapeutic agent developed by Tetra Discovery, inhibits the phosphodiesterase type-4D (PDE4D) enzyme linked to memory formation and learning…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Patients with fragile X syndrome have faster protein synthesis and increased protein levels than healthy people, according to a recent study. These findings suggest that protein synthesis alterations could be an important biomarker of the disease and play an important role in its development. The study, “Protein…

A collaboration between startup company Healx and nonprofit FRAXA Research Foundation is moving forward with preclinical testing after identifying a list of existing therapies that hold the most promise for treating fragile X syndrome. In late 2016, Healx, based at the University of Cambridge in England, received a…