Year: 2025
Type: article
Abstract: This article presents data from the literature showing that in recent decades molecular biology and genetic research have revealed the mechanisms of the origin of many hereditary diseases in the human organism. In addition, thanks to the complete study of the human genome and the introduction of next-generation sequencing technologies, the genetic determination of diseases, the spectrum of mutations and the molecular mechanisms of pathogenesis are being analysed in depth. Among genetic diseases, the most frequently encountered are blood diseases (thalassaemia, haemophilia), metabolic disorders (phenylketonuria, galactosaemia), oncological syndromes and also neurological diseases. This article analyses the scientific literature on the molecular foundations of genetic diseases in humans.
Institution: ZARMED University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7119256385