In this editorial, we explore the pivotal role of genetics in revolutionizing modern medicine. The journey begins with genetics as the cornerstone of pathophysiology, where a shift from symptom-centric approaches to genetics-centric understandi...
While I was thinking about how to write this brief article, I was looking for the most appropriate sequence of arguments to make my way to justification and acceptance in the consciences, but I ended up deciding to go to the point and simply sa...
Introduction: Niemann-Pick A and B diseases (NPD), are part of the group of lysosomal storage diseases caused by acid sphingomyelinase (ASM) deficiency, which catalyzes the hydrolysis of sphingomyelin (SM) to ceramide and phosp...
Introduction: The STING gene (Stimulator of Interferon Genes) emerges as a key element in the understanding and management of hyperinflammation and autoimmune conditions. Case: We report an adolescent patient w...
This paper focuses on the diversity of functions and types of RNA, a crucial molecule in cell biology and genetics. RNAs are divided into several categories according to their function and structure. Messenger RNA (mRNA) mediates protein sy...