Revolutionary Advancement: Human Genome Enhanced for Equitable and Inclusive Future
Genetic research has taken a giant leap forward with the creation of a new draft of the human genome that better captures humanity’s genetic diversity. The pangenome, a digital map created by piecing together the DNA of 47 individuals from every continent except Antarctica and Oceania, has the potential to transform the diagnosis of disease, the discovery of new drugs, and our understanding of the genetic variants that lead to ill health or particular physical traits.
Pangenome: A new way to map genetic variation
Until now, geneticists have used a single human genome, largely based on one individual, as a standard reference map for detecting genetic changes that cause disease. This approach has likely missed some of the genetic diversity between individuals and different populations around the world. The pangenome, which is still a draft, is a digital amalgamation of sequences that can be used to compare, construct, and study other human genome sequences. Researchers hope to include 350 people by the middle of 2024.
Deepening our understanding of human genetic diversity
While each person’s genome varies only slightly, by about 0.4% compared to the next person on average, the human genome is massive, consisting of 3.2 billion pairs end to end. This means that there are still many important genetic differences between individuals and populations around the world.
The new reference incorporates more diverse genetic sequences and adds 119 million base pairs to the library of 3.2 billion previously known base pairs that make up the human genome, deepening our understanding of human genetic diversity and making it more complete.
Uncovering new biology and removing bias
The new pangenome reference is an amalgamation of different genomes from 47 people with ancestry from around the world. The original human reference genome was predominantly based on anonymous volunteers who responded to an ad placed in the Buffalo Evening News.
on March 23, 1997, with one donor accounting for 70% of the sequence. The 47 anonymous individuals included in the first draft of the Pangenome project were among those who participated in the 1000 Genomes Project, a catalog of common human genetic variation that was completed in 2015. The team is in the process of recruiting new individuals to represent some populations not included in the 1000 Genomes Project, particularly people of Middle Eastern and African ancestry.
Other projects aimed at broadening genomic databases have “often missed the mark in demonstrating respect” for communities in lower-income countries and indigenous people, who say their samples and data are being used to further the goals of scientists and institutions in rich countries. The team was keen to avoid any similar mistakes. Ethical considerations and “the principle of justice” were a key part of the endeavor.
The potential impact of the pangenome on genomics research
The pangenome reference represents a significant scientific achievement, providing an expanding view of humanity’s DNA blueprint, with significantly greater human diversity than previous reference sequences.
Having a high-quality human pangenome reference that increasingly reflects the diversity of the human population will enable scientists and healthcare professionals to better understand how genomic variants influence health and disease and move us toward a future in which genomic medicine benefits everyone.
Understanding and cataloging the differences between genomes will allow us to understand how cells operate, their biology, and how they function, as well as understand genetic differences and how they contribute to understanding human disease.
Conclusion
The creation of the pangenome reference is a milestone in genetic research that will pave the way for more equitable and inclusive medicine. By incorporating the genetic diversity of individuals and populations around the world, it has the potential to improve the diagnosis and treatment of disease and deepen our understanding of the genetic variants that lead to ill health or particular physical traits
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FAQ
What is the pangenome?
The pangenome is a digital amalgamation of genetic sequences from multiple individuals that can be used to compare, construct, and study other human genome sequences.
How many individuals were included in the new pangenome?
The new pangenome incorporates the DNA of 47 individuals from every continent except Antarctica and Oceania.
What are the benefits of the new pangenome?
The new pangenome will improve our ability to diagnose diseases, discover new drugs, and understand the genetic variants that lead to ill health or a particular physical trait.
How does the new pangenome differ from previous reference sequences?
The new pangenome represents a significantly greater human diversity than previous reference sequences, providing an expanding view of humanity’s DNA blueprint.
How will the pangenome help researchers understand genetic variation?
The pangenome reveals the architecture of variation and how it affects genes, providing a better picture of how some of the most complex regions of the genome vary.
How were individuals selected for inclusion in the Pangenome project?
The 47 anonymous individuals included in the first draft of the Pangenome project were among those who participated in the 1000 Genomes Project, a catalog of common human genetic variation that was completed in 2015.
What ethical considerations were taken into account in the Pangenome project?
The team was keen to avoid any similar mistakes to previous projects aimed at broadening genomic databases that “often missed the mark in demonstrating respect” for communities in lower-income countries and indigenous people. Ethical considerations and “the principle of justice” were a key part of the endeavor.