Causes

I sometimes joke that if I had served in the military, I’d win diversity bingo. As a minority woman with a disability, there are many boxes to check off on a self-disclosure form. I am self-absorbed, though, and it’s time I do better. Within the rare disease community, many patients…

Levels of double-stranded DNA — dubbed dsDNA — are elevated in the fluid around the brain and spinal cord of people with severe neuromyelitis optica spectrum disorder (NMOSD), a small study suggests. These levels, which indicate cellular damage, may trigger more inflammation in NMOSD patients, potentially contributing to the…

The activation of two types of immune cells — called natural killer (NK) and natural killer T-cells (NKT) — may contribute to the abnormal immune attacks that drive neuromyelitis optica spectrum disorder (NMOSD), a study suggested. The profile of these cells in NMOSD patients differed notably from that observed…

People with neuromyelitis optica spectrum disorder (NMOSD) and related neurological conditions show reduced brain volume compared with individuals without such diseases, a new study highlights. The results indicate that rates of volume loss in the thalamus — a brain region that helps to relay motor and sensory signals —…

Certain variations in the ESR1 gene — a protein-coding gene for estrogen receptor-alpha — are significantly more common among women with neuromyelitis optica spectrum disorder (NMOSD) or multiple sclerosis (MS) than among healthy women, a small study suggests. Such differences were not observed between men with these…

A signaling molecule called CXCL7 drives inflammation and nerve fiber damage in a mouse model of neuromyelitis optica spectrum disorder (NMOSD), a new study reports. The findings show that this signaling molecule “is a key factor in the formation of lesions in the brain, spinal cord, and retina,” the…

A man’s first manifestation of neuromyelitis optica spectrum disorder (NMOSD) was aseptic meningitis, an inflammation of the meninges (the membranes that enclose the brain and spinal cord) without evidence of a bacterial infection, which is unusual and made a quick diagnosis difficult, says a report from Japan. The man…

Key players in B-cell signaling pathways and related inflammatory molecules were elevated in the blood of people with neuromyelitis optica spectrum disorder (NMOSD) compared with healthy people, a study found. The findings suggest that targeting this signaling pathway could show therapeutic promise in NMOSD, the researchers noted. The study,…

In the five years since my daughter Bella, 14, was diagnosed with neuromyelitis optica (NMO), I have just barely come to accept that we may never know how or why she developed the disease. As Bella’s mom, I’ve spent countless sleepless nights filled with guilt and worry that something…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…