An experimental gene therapy developed by researchers at UCLA, University College London and Great Ormond Street Hospital has restored and maintained immune system function in 59 of 62 children born with ADA-SCID, a rare and […]
New research by UCLA Health has identified a sex-chromosome linked gene that drives inflammation in the female brain, offering insight into why women are disproportionately affected by conditions such as Alzheimer’s disease and multiple sclerosis […]
Researchers from the Universitat Autònoma de Barcelona (UAB) have published an analysis that reveals new functions of the RAD21L protein—a germline-specific cohesin—crucial for male fertility. The study, carried out in mice and in collaboration with […]
RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the American Journal of Human […]
Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss, an international team of researchers has discovered.This article was originally published on MedicalXpress.com
New research has uncovered shared patterns between ribosomal RNAs and genes linked to brain disorders, including autism, bipolar disorder, ADHD, and schizophrenia.This article was originally published on MedicalXpress.com
Child maltreatment, which includes abuse and neglect, is one of the most serious public health concerns worldwide. These adversities leave a lasting impact on the emotional well-being, memory, and social development of affected individuals. The […]
A new gene therapy approach aimed at protecting people with type 1 diabetes from developing diabetic kidney disease—a serious and common complication of the condition, has shown promising results in a University of Bristol study.This […]
Cedars-Sinai investigators have identified a “molecular switch” on a gene strongly associated with the autoimmune disease lupus, which appears to propel immune cells into overdrive, attacking and damaging healthy tissues and organs.This article was originally […]
Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how a child is developing—have been created by an international team, led by the University of Bristol. Their study […]
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