Genetics
Scientists discover novel mechanism that causes rare brain disease
A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
Sep 15, 2022
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Page 20 - News tagged with rare disease
Medications
FDA approves first treatment for acid sphingomyelinase deficiency
The U.S. Food and Drug Administration has approved Xenpozyme (olipudase alfa) for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD), a rare genetic disease.
Sep 5, 2022
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Genetics
Discovery of rare genetic mutations could lead to new cholesterol treatment
An unexplained case of severe coronary artery disease in a seemingly healthy young man led scientists at The Ohio State University Wexner Medical Center and College of Medicine to a discovery that could lead to a new way ...
Aug 31, 2022
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Ophthalmology
New diagnostic option for rare eye disease
An estimated 5 to 10% of blindness worldwide is caused by the rare inflammatory eye disease uveitis. Posterior uveitis in particular is often associated with severe disease progression and the need for immunosuppressive therapy. ...
Aug 29, 2022
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Genetics
Study zeroes in on genes involved in Crohn's disease
An international consortium of researchers has identified genetic variants in 10 genes that elevate a person's susceptibility to Crohn's disease, a form of inflammatory bowel disease.
Aug 29, 2022
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Medical research
Fighting tumors through sugar deprivation
One of the deadliest forms of cancer is the brain tumor glioblastoma multiforme (GBM). It is a rare disease, with approximately 28,000 cases diagnosed every year in the EU and the US, for which median survival does not exceed ...
Aug 22, 2022
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Diseases, Conditions, Syndromes
Brain-eating amoeba suspected in 2nd Midwest death
A child likely died from a rare infection caused by a brain-eating amoeba after swimming in an eastern Nebraska river, health officials said, making it the second such probable death in the Midwest this summer and raising ...
Aug 19, 2022
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Medications
Health system first in nation to offer treatment for hereditary amyloidosis
UC San Diego Health is first in the nation to offer a new injectable medication to patients with nerve damage caused by hereditary transthyretin amyloidosis, a rare disease that can be fatal without management. Previously, ...
Aug 18, 2022
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Genetics
New online resource helps connect rare genetic variants to human health and disease
In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene—one from each parent—were ...
Aug 16, 2022
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Diseases, Conditions, Syndromes
EXPLAINER: Can the spread of monkeypox be stopped?
Since May, nearly 90 countries have reported more than 31,000 cases of monkeypox.
Aug 10, 2022
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