Scleroderma, a chronic and currently incurable orphan disease where tissue injury causes potentially lethal skin and lung scarring, remains poorly understood. However, the defining characteristic of systemic sclerosis, the most serious form of scleroderma, is irreversible and progressive scarring that affects the skin and internal organs. Published in iScience, Michigan Medicine’s Scleroderma Program and the
A gene known for helping facilitate communication between neurons in the nervous system has been discovered to be connected with Alzheimer’s dementia and cognitive decline, according to a national research team led by The Jackson Laboratory and University of Maine. Catherine Kaczorowski, associate professor and Evnin family chair in Alzheimer’s research at The Jackson Laboratory
Studies that started in zebrafish have now pointed to a role for collagen secretion in a wide variety of clinical symptoms—and in a newly identified genetic syndrome. Ela Knapik, MD, associate professor of Medicine at Vanderbilt University Medical Center, and her colleagues discovered the syndrome caused by mutation of a single gene and named it
About one in 8,000 people have facioscapulohumeral muscular dystrophy, according to a 2014 study, which is relatively common in the world of genetic diseases. New University of Minnesota Medical School research identifies an inhibitor that protects cells from toxic effects associated with this disease in cells and mice. Facioscapulohumeral muscular dystrophy (FSHD) is a genetic
The abnormal expression of many genes that have previously been associated with autism are also present in cases of violent psychopathy, a new study shows. The researchers used stem cell technology to analyze the expression of genes and proteins in the brain cells of psychopathic violent offenders. Published in Molecular Psychiatry, the findings may open
Fighting cancer means killing cancer cells. However, oncologists know that it’s also important to halt the movement of cancer cells before they spread throughout the body. New research, published today in the journal Nature Communications, shows that it may be possible to freeze cancer cells and kill them where they stand. Raymond Bergan, M.D., Division
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