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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…

People with primary Sjögren’s syndrome have a distinct protein composition in their tears and saliva when compared to samples from healthy individuals or those with sicca symptoms, whose dryness is not caused by Sjögren’s, a study found. These proteins may serve as biomarkers for non-invasive and fairly easy tests…

Higher levels of some inflammatory signaling molecules are associated with less fatigue in people with primary Sjögren’s syndrome, challenging prior thoughts that inflammatory molecules directly mediate fatigue in chronic autoimmune conditions, a recent validation study found. The study, “Fatigue in primary Sjögren’s syndrome (pSS) is associated with…

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,…

Analyzing subsets of immune cells in the salivary gland by examining the cells’ epigenetic makeup is a viable way to measure inflammation that may aid in diagnosing and monitoring people with Sjögren’s syndrome, a study suggests. These data were reported in the journal Rheumatology in the paper, “…

The female sex hormone estrogen appears to protect women from primary Sjögren’s syndrome, a finding that provides new insights into the development of this condition. Specifically, the case-control study demonstrated that women with Sjögren’s syndrome have a lower estrogen exposure in their lifetime compared to sicca women (those…

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…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

People with Sjögren’s syndrome have significant alterations in the composition of gut bacteria compared to healthy individuals, some of which seem to be directly associated with eye dryness, one of the hallmarks of the disorder, according to a study. The findings of the study, “Gut microbial dysbiosis in…