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A team led by researchers at Fulcrum Therapeutics has developed new methods to measure the FMRP protein in blood cells. Using these tests, the scientists showed that FMRP levels in blood cells were statistically associated with intelligence quotient (IQ) scores among people with fragile X syndrome. The study,…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
The European Commission has granted orphan drug designation to Zygel, Zynerba Pharmaceuticals’ cannabidiol (CBD) transdermal gel candidate to treat for behavioral symptoms in people with fragile X syndrome. Orphan designation is assigned to promising therapies for life-threatening, rare diseases affecting fewer than 5 in every 10,000 people in…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Boys, ages 2 to 6, with fragile X syndrome who have trouble talking can join the BRIDGE study to help researchers learn how brain development affects language growth. The study is being led by Carol Wilkinson, MD, PhD, at the Boston Children’s Hospital Labs of Cognitive Neuroscience in Massachusetts,…
BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
Healx has entered into an exclusive licensing agreement with Ovid Therapeutics to develop and commercialize gaboxadol in a potential combination treatment for fragile X syndrome and other disorders. The announcement follows Ovid’s decision to discontinue the development of gaboxadol (previously called OV101), despite it being deemed safe and well-tolerated in…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
A survey of women with fragile X syndrome revealed that most identified with a label other than that of the chromosomal disorder, and that the majority either did not want to have a child with the genetic disease or were conflicted. Despite most respondents reporting some learning disabilities, the…
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