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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Despite being relatively rare in toddlers, juvenile myasthenia gravis should be considered in the differential diagnosis of children showing different types of eye-related symptoms, a case report says. The case report study, “Mummy, my eyelids are heavy”: A case series of juvenile myasthenia gravis,” was published recently in…

Despite the support from basic health insurance, those in China living with rare diseases, such as myasthenia gravis (MG), hemophilia, and phenylketonuria (PKU), still struggle to have access to affordable medications and therapies, according to a study. The findings of the study, “Health service security of…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

People with myasthenia gravis suffer from diverse patterns of muscle weakness, which tend to shift frequently throughout the disease’s course, a new study shows. The study, “Heterogeneity and Shifts in Distribution of Muscle Weakness in Myasthenia Gravis,” was published in the journal Neuromuscular Disorders. Myasthenia gravis (MG) is…

Patients who develop myasthenia gravis (MG) either before or after surgical removal of the thymus (thymectomy) due to a thymoma — a tumor originating from the thymus — share similar clinical characteristics, a study shows. Moreover, testing for anti‐acetylcholine receptor (AChR) antibody levels, or…

Treatment with Soliris (eculizumab) provides comparable and sustained improvements in daily living and muscle strength in Japanese and Caucasian patients with treatment-resistant generalized myasthenia gravis (gMG), according to one-year data of REGAIN’s extension study. Efficacy and safety were maintained up to 52 weeks in both patient groups and were consistent…

Analyzing microbial and metabolic changes in fecal samples may provide a highly reliable way to diagnose myasthenia gravis (MG) and monitor its severity, according to a new study in patients and mice. The research, “Perturbed Microbial Ecology in Myasthenia Gravis: Evidence from the Gut Microbiome and…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…