by Vanderbilt University Medical Center Identification of a unique heterozygous mutation in the IRF4 gene in seven CID patients. Credit: Science Immunology (2023). DOI: 10.1126/sciimmunol.ade7953 An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, Ph.D., has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia....
by Tanner Stening, Northeastern University A new study, published Wednesday, focused on a severe neurodevelopmental disorder referred to as 16p11.2 Deletion Syndrome, a condition often associated with autism, intellectual disability, language impairments, seizures, obesity, and movement disorders, among a range of other health problems. Credit: Ruby Wallau/Northeastern University Researchers at Northeastern and neighboring colleges say...
UNIVERSITY OF EXETER New research has found that men who have the Western world’s most common genetic disorder are more likely to develop dementia, compared to those without the faulty genes. Researchers at the University of Exeter and the University of Connecticut have previously found that men with two faulty genes that cause the iron...
by Pennsylvania State University Credit: Pennsylvania State University Alzheimer’s disease is the most common type of dementia. It slowly kills brain cells and is the fifth-leading cause of death for Americans age 65 and older. But contrary to popular belief, steps can be taken to slow it down. “People think Alzheimer’s is an entirely genetic disorder, but...
Researchers from Michigan State University College of Human Medicine and physicians from Spectrum Health have identified for the first time in a human patient a genetic disorder only previously described in animal models. Credit: CC0 Public Domain The disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1) and is defined...
