This article has something special for me. As you know, those of you who follow this blog, posts present a common thread that is my professional approach to the world of genetics. This process has a Socratic background in the sense that the greater the knowledge acquired, the greater the awareness of the immensity to be known. So, faced with this quixotic struggle, Ithought of developing a tool whose function is to guide among the immensity of data that grows every day.
I present to you Genomepleio.
The Genomepleio web application is a digital platform for clinical, medical and dental personnel, which serves as a facilitator for the diagnosis of genetically based pathologies in the clinic. Genomepleio relies exclusively on the OMIM database, from Johns Hopkins University, as a source of information to correlate signs and symptoms with diseases and genes that trigger them. The application allows the clinician to introduce those signs and symptoms with which they are familiar in their clinical routine and, in response, returns those genetic diseases that present them, ordering the response so that the first disease will be the one with the highest degree of coincidence with the signs and symptoms described. Likewise, it allows graphically highlighting those medical history that the patient or relatives may present (this function does not modify the order of the response). We know that a gene can regulate the expression of different phenotypes in apparently unrelated systems and at different stages of life (pleiotropy). The detection of alterations in these genes (mutations) through the identification of the signs and symptoms that can express and the integrated management of this information through this platform, manages to connect and familiarize the clinician with the field of genetic medicine with a marked preventive and predictive character (for more information, see the user manual on the genomepleio.com website).
… The game starts.