Specialists confirmed that the project to identify and decode the human genome aims to reduce the incidence of genetic and non-genetic diseases, identify their causes, and limit high-risk intermarriage between societies.
more effective treatments
And they explained in their talk to Today, that defining the human genome codes contributes to identifying beneficial treatments for people and developing more effective treatments for all diseases, such as diabetes treatments, in addition to fighting pathogens such as germs naturally through other genetically modified types such as viruses to fight antibiotic-resistant bacteria or the use of bacteria. To destroy viruses during pandemics.
A genetics consultant from the University of Paris and assistant professor at the University of Jeddah, Dr. Dr. Samir Majdali, genetic variants are not always disease-causing, as some are benign, while others are disease-causing or cause the possibility of other diseases.
She added: Recently, researchers are moving to decipher the human genetic map, in order to complete a reference human genetic map that will enrich our understanding of genomics with higher accuracy and greater comprehensiveness, and this will result in the discovery of more genetic diseases and knowledge of their causes, whether from mutations in genes or from structural variation in chromosomes and thus Providing a better service to patients, allowing early detection of genetic diseases, knowing the possibility of diseases occurring to them, and contributing to their prevention.
Majdali explained that the field of genomes is witnessing rapid and remarkable development, and the discovery of genetic diseases, due to the development of technologies and devices used to read the genome and research efforts in this field.
The evolution of genomics
The medical and cancer genetics consultant, Dr. Hani Muhammad Al-Afghani: Scientists started with a project to create a map of the human genome, which was from the DNA of one person as a reference for all successive human map analyses, but from my point of view based on the beliefs of scientists involved in the field of genetics, the reference of one person is not really sufficient.
And he continued: Despite the terrible development and acceleration in the research of decoding the human genome, scientists have only reached 1% as functional codes that produce proteins, while 99% are not functional codes. Genetics is still ignorant of the extent of the interference of this unknown part in controlling human life, whether natural or disease, and scientists continued their research to decipher the human genome.
Al-Afghani explained: A research was recently published in the journal Nature, conducted on 47 people of several different races, which led to 94 genetic sequences for each part of the chromosomes, to determine the extent of genetic compatibility between humans in what is known as the term pangenome, which is identifying all the genes present in the genome of an organism in society. Multiple (in the world) which resulted in the addition of 119 million new genetic codes that did not exist in the previous map of 2018.
Al-Afghani added: The project to identify and decode the human genome aims to reduce the incidence of diseases, all hereditary and non-hereditary. By identifying the natural structural codes of the genome, doctors can know the causes of genetic diseases, and thus reduce high-risk intermarriage between societies with genotypes and pathogenic mutations, which reduces their occurrence globally. Scientists determine the susceptibility of people to attract certain germs, and by identifying these codes, immune cells can be engineered in evil to fight these germs naturally.
And at the level of medicines; Al-Afghani said that defining the codes of the human genome enables scientists to identify beneficial treatments for people themselves, determine their doses, and develop more effective treatments for all diseases, as scientists found that some treatments, such as diabetes treatments, were not suitable for all patients, but only for a certain group, in addition to dose ratios. The effect was variable among people of the same category, due to the structural change of their genome codes, and thus the selection of the optimal treatment for the optimal person through genetic analysis.
He pointed out that the benefits of pangenome science are increasing the fight against pathogens such as germs naturally through other genetically modified species such as viruses to fight antibiotic-resistant bacteria, or the use of bacteria to destroy viruses during pandemics.
Expanding the human genome
Hematology consultant at King Fahd University Hospital, Dr. Hanan Al-Duailej: The human reference genome has formed the backbone of human genome science since its first draft was released more than 20 years ago. Recently, the Human Genome Reference Consortium presented its first version of the first draft of the human genome reference containing 47 diploid sets from a group of genetically diverse individuals. These assemblies cover more than 99% of the predicted sequence in each genome and are more than 99% accurate at basic structural levels. These genomes represent a subset of the planned release, which aims to better capture global genetic diversity across 700 haplotypes from 350 individuals. .
Al-Duailej added: The Human Genome Reference Consortium aims in the near term to expand the human genome to a diverse set of 350 individuals which should capture the most common variants to correctly represent the entire genome in almost all individuals, thus giving a more comprehensive representation of all types of human variation, as it seeks It aims to expand efforts to recruit new participants to better represent human genetic diversity and develop a richer human reference map to improve understanding of genomics and the ability to predict, diagnose, and treat disease.
For his part, the Assistant Undersecretary of the Ministry of Health for Preventive Health, Consultant for Infectious Diseases, Dr. Abdullah Asiri: The great expansion in deciphering the human genome helps a broader understanding of pathogens, risk factors, and future therapeutic and preventive interventions, pointing out that a huge update of the human genome was published in the year 2000, when the first integrated human genetic map based on a sample from a white donor was published in New York is 99.9% identical in the human genome, and the difference is in 0.1%, but by adding samples from 49 donors of different races, 119 million genetic codes were added.
