One of the leaders of the human genome said: “We will create maps of genetic diversity and make science fairer.”

Karen Megan presents herself as a “satellite biologist” and she has her rationale. She is a researcher and professor at the University of California, Santa Cruz, in the US, and studies the “satellite DNA” of cells. It is the repetitive DNA that makes up the satellite domain. Although it seems so farfetched for everyday life, Thanks to her effort and dedication to the subject, Dr. Mega has made another scientific achievement globally possible: they have described the first complete human genome sequence. Collaborated with 100 researchers.

The achievement included previously unseen regions of DNA from the human species that are linked to diseases such as muscular dystrophy, some types of cancer, among others, and brain development. It will involve more information so that Progress has been made in developing increasingly personalized diagnostic methods and treatments for patients.

In the 1990s, various groups of researchers deciphered the genomes of bacteria, yeast, and a worm. Between 2000 and 2003, The American scientists Francis Collins, From the public sector, and Craig Venter, from a private company, were announcing with great fanfare both drafts and final work on deciphering the human genome with different methodologies. In those areas, researchers from the United Kingdom, France, Japan, Germany and China have also collaborated. More than $3,000 million has been spent reading every letter of a person’s DNA.

But in fact, those focused on the human race only got an accurate “picture” of 92% of the genome in 2003. The remaining 8% was too complicated for the technology at the time to decipher, and that percentage stayed put. . Karen Mega and her collaborators worked on this “pendant”.

“I started my scientific career as a student in the scientist’s lab Evan Eshelr During the launch of the first human genome project in 2001, Infobae. This researcher, he added, “had the vision and effort to complete the reference human genome, and that shaped my view of genomics many years before the telomere-to-telomere union was formed.” The consortium began operating in 2019.

Mega acknowledged: “I found my love for satellite DNA, tandem repeats in persistent gaps in our genomes, with Hunt Willard as my instructor. Finally, I did my postdoctoral training with David Husler and Jim Kent, recognized for assembling the first human genome through the public effort and for their passion for sharing these resources widely and publicly. in general, I had a unique view of the Human Genome Project, past, present and future. It is an honor to be such a small part of this legacy.”

The human genome consists of just over six billion individual DNA letters, spread over 23 pairs of chromosomes.The remaining 8% of the genome contained highly repetitive sequences and were largely discarded as ‘junk’ DNA. Among the repeating regions are the segments that hold the two strands of chromosomes together and play an important role in cell division. also There were ‘chunks’ that gave instructions to the cell’s protein factories, and others that contained genes that could help the species adapt. He did not know the correct order of all those repeated pieces.

Another problem was getting access to the complete genome. Most cells contain two genomes, one from the father and one from the mother. When trying to put all the pieces together, sequences from each parent can be shuffled, masking true variance within each individual genome.

Dr. Eichler, who is part of the Howard Hughes Medical Institute, had the idea of ​​getting an entire genome by sequencing just one of the genomes rather than resolving two at the same time. Therefore, he used a group of cell lines, which was studied by a geneticist at the University of Pittsburgh Urvashi Surti: due to the failure of normal development, These cells have two copies of the father’s DNA and no two copies of the mother’s DNA. This cell line is what made genome reassembly possible — to a large extent.

Other changes also contributed to this breakthrough. During these two decades, there has been innovation in the development of gene sequencing kits manufactured by Oxford Nanopore Technologies and Pacific Biosciences. With Adam Philip, Dr. Mega promoted the creation of the Telomere to Telomere Consortium in 2019 when she saw that there was already technology that could accurately read a million DNA letters at a time to understand the most difficult parts of the genome.

In addition to the collection of new cell lines and fixtures, and the collaborative work of more than 100 researchers, This time the whole genome sequencing also had the imprint of the woman as the leader. He asked did you notice the difference? Infobae Dr. Mega. Solow replied, “I am very pleased to be representing our consortium, along with the other leaders of Telomeres for Telomeres, Adam Philip and Evan Eichler. We have published six works with the complete genome.” Nearly half of the authors are women and we celebrate the achievements of a large number of early-stage scholars.”.

It would hardly be possible to talk about “junk DNA” after the six papers published by the consortium in the journal to know. “Junk DNA” is just a way of describing DNA whose function we don’t fully understand. We hope that this comprehensive map will help researchers find new meaning and function in these previously overlooked areas.”And Mega said. Now it opens up the possibility of finding more answers to various diseases.

“The possibility of studying each base of whole genomes (or telomeres by telomeres) It will lead to new genetic discoveries that will ultimately improve our understanding of human health and disease.” world said. “The new regions provide maps that can be useful in understanding common structural chromosome abnormalities seen in the general population, such as Robertsonian translocations affecting the short arms of acrocentric chromosomes, which were just published for the first time as part of our study,” he said.

Additionally – and he added – “We hope to get maps of all the centrioles, or important places for our chromosomes to separate properly every time a cell divides, It can help us understand aneuploidy, such as trisomy 21 or Down syndrome, or other chromosome copy number errors common in cancers and early development.”

in the meantime, Dr. Mega is not satisfied with the complete human genome. “We will create maps of global genetic diversity to make science fairer.”. That is, the genome decoded in 2003 was based only on samples taken from only 11 individuals. Together with Dr. Eichler, they launched the Human Pangenome Project. It is funded by the US National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, in the amount of $30 million. They are seeking detailed genome sequences including 350 people of different ethnic origins.

The idea is to create more complete maps of the human genome from around the world. This will increase genetic diversity to make science fairer. Our goal is to create the maps rather than decipher the results.” deepen. All data will be shared and genomic medicine is set to be more equitable with all of humanity. “To account for the full diversity of human genetic diversity, the Human Pangenome Consortium has joined forces with the Telomere-by-Telomere Consortium to build a collection of high-quality genomes from diverse populations. It will be a primary goal in the coming years.” “It’s important that we get it right, and our team focuses on quality to ensure that this resource is of significant benefit,” he said.

The Pangenome It is implemented in a different way from previous projects. Within the team are bioethicists who oversee every step until high standards of research ethics are met. Furthermore, 350 genomes will come from cell lineages that contain copies from both parents. This means that they have to use complex computing tools to separate the genomes and ensure that they accurately capture structural variation. They have already completed 70 genomes under that initiative. The goal is to finish the race with a 350 in 2024.

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