This step comes as part of the scientific pursuit of a deeper understanding of the human genome , especially the non-coding part of it, which makes up about 98% of the DNA , and which does not carry instructions for making proteins, but rather precisely controls the timing, location, and manner in which genes are activated.
Scientists believe that this tool, called AlphaGenome , could represent a paradigm shift in understanding common inherited diseases, such as heart disease, immune disorders, mental health problems, and various types of cancer. The majority of these diseases are linked to defects in gene regulation regions , but identifying the mutations responsible for these defects has long been a complex scientific challenge.
AlphaGenome works by training itself on massive genetic databases of humans and mice, enabling it to link mutations in specific tissues to their effects on gene activity. The tool has the ability to analyze long segments of genetic code at once and predict how genetic changes will affect biological processes within a cell.
Some promising applications of this technology include:
Identifying disease-driving mutations with unprecedented accuracy
Understanding the crucial role of specific parts of the genetic code in the development of different tissues
Designing advanced gene therapies that target genes in specific tissues and not others opens new horizons for personalized and precision medicine.
Scientists emphasize that the ultimate goal is to develop accurate predictive models that may render confirmatory laboratory experiments unnecessary, an ambitious goal that still requires further effort and scientific collaboration.
Many experts believe that "Alpha Genome" represents a major step towards deciphering the vast and unexplained areas of the human genome , which could change the face of biomedicine in the near future.
