US National US Health Institutions launch an unprecedented study of human hereditary material. The Morphic consortium will create a full catalog describing the role of each gene in the body, including their interaction with each other.
Modern technologies allow for the detailed study of a person’s genetic code; however, the functions of most hereditary units are still a mystery. Out of approximately 20 thousand areas of DNA encoding proteins, scientists understand only a small part – mostly those associated with various diseases. The remaining sequences, crucial for the body’s functions, remain largely unexplored.
The first stage of the project, initiated in 2022, will focus on a thousand genetic elements. Simultaneously, an information infrastructure will be established to facilitate data exchange and result verification. Researchers aim to utilize various genome editing methods, systematically “turning off” DNA sections one by one to observe their impact on tissue behavior.
Cells in the human body can be likened to cities that never sleep. At the core of each cell lies a nucleus – a structure resembling a peach pit that contains DNA. Inside, molecules are constantly in motion, translating genetic information into proteins, the main “workhorses” that regulate metabolism, initiate immune responses, and transport oxygen in the blood.
Until recently, the study of individual genes required years. The introduction of high-performance DNA sequencing technology revolutionized this process, enabling the rapid sequencing of nucleotide sequences in genetic material. This has expedited the identification of alleles – different variants of the same gene resulting from natural mutations. Some alleles are inconsequential, while others determine specific traits like eye color or influence disease risks. For instance, certain genes may increase susceptibility to Alzheimer’s, while other gene variants provide protection against the disease.
The establishment of comprehensive databases housing hundreds of thousands of decoded genomes has enhanced researchers’ understanding of human health. Over 5000 bodily characteristics have already been linked to minor variations in DNA structure. Concurrently, two large-scale initiatives – the Roadmap Epigenomics Mapping Consortium and the Encyclopedia of DNA Elements Project – have contributed significantly to the exploration of human genetics.