by Northwestern University A hairpin loop from a pre-mRNA. Highlighted are the nucleobases (green) and the ribose-phosphate backbone (blue). Note that this is a single strand of RNA that folds back upon itself. Credit: Vossman/ Wikipedia When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an...
Tag: <span>genetic disorder</span>
Post
Study reveals new genetic disorder that causes susceptibility to opportunistic infections
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....
Post
Landmark study into genetic disorder offers clues into links between metabolism and mental health
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...
Post
Dementia rates higher in men with common genetic disorder haemochromatosis
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...
Post
Take steps to slow Alzheimer’s disease
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...
Post
Researchers identify new genetic disorder
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...