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UrduAn international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia. The discovery, reported Jan. 20 in the journal Science Immunology, will help identify people who carry this in-born error of immunity (IEI).
Tag: Genetic Disorder
Study finds risk of leukemia higher than expected in children with Down syndrome
The risk of childhood leukemia among kids with Down syndrome is higher than predicted, according to a new study led by UC Davis and UC San Francisco researchers. Early diagnosis remains critical.
Unexpected Mental Illnesses Found in a Spectrum of a Rare Genetic Disorder
UC Davis MIND Institute researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a “double hit” condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders.
Wayne State University team developing new treatments for Barth syndrome
A research team from Wayne State University recently received a $1.5 million grant from the National Heart, Lung, and Blood Institute of the NIH to work on potential new targets for treating Barth syndrome, a rare and life-threatening, X-linked genetic disorder that causes cardiomyopathy and other pathologies.