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Genetics

In this section you will find a set of articles with useful information for different pathologies.

Resolviendo dudas sobre conceptos genéticos
Resolving doubts about genetic concepts
August 18, 2023
Exome: Definition and Concept The exome refers to the part of the human genome that codes for proteins. It is made up of all the exons, which are the regions of DNA that are transcribed into messenger RNA and eventually translated into proteins. The exome contains vital information for the function and structure of proteins in the body. Analysis of...
La importancia de las pruebas genéticas en el diagnóstico y tratamiento de trastornos del espectro autista y otras patologías del neurodesarrollo
The importance of genetic tests in the diagnosis and treatment of autism spectrum disorders and other neurodevelopmental pathologies
May 12, 2023
Find out about the cases of Lucas, Martina and Sofía and how, thanks to genetic tests, they reached a diagnosis and treatment. Today, genetics play a crucial role in our understanding of neurodevelopmental pathologies, such as autism spectrum disorders (ASD). At Enevia Health, we offer a variety of genetic tests, such as clinical exome,...
Post gen shank3-blog-01
The SHANK3 gene and Autism
January 20, 2023
Have you heard of the SHANK3 gene? The SHANK3 gene is one of the most studied genes in relation to autism. It is located on chromosome 22 and codes for a protein found in synapses (communication points between brain cells) and plays an important role in communication between brain cells. The mutations in...
Estudio de secuenciacion de genoma completo del autismo-01
World's Largest Autism Whole Genome Sequencing Study Reveals 134 Autism-Related Genes
January 6, 2023
Source: Neurosciencenews – https://neurosciencenews.com/asd-genetics-21814/ Researchers have identified 134 genes associated with autism and a variety of genetic alterations associated with ASD. In particular, the study identified changes in copy number variations with likely associations with ASD, including variants associated with autism in 14% from people on the autism spectrum. Source: Hospital...

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