An 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).
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.
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.
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.