April 7, 2022 – While scientists are celebrating the reunification of the last pieces of the human genome – a major undertaking in a decade in the making – the rest of us are left wondering how this progress is for our health and well -being.
The success of diagnosing and treating cancers, developmental diseases, infertility, and many other diseases caused by genetic changes is expected to emerge out of this new research. say the experts.
“Hallelujah. We’ve finally eliminated one human genome. This is the beginning of a transformation, not just for genomic research but for clinical medicine,” said Evan Eichler, PhD, who spoke at a media conference. sponsored by the National Human Genome Research Institute.
“This will have important implications for basic research and clinical genomics moving forward,” said Karen Miga, PhD, director of the Miga Lab at the University of California, Santa Cruz.
Miga is a leading researcher who participated in the research from the Telomere-to-Telomere (T2T) Consortium, which brought together hundreds of researchers on the project. The name T2T is good because telomeres are the last end of DNA strands, and transcribing the entire human genome means arranging our genes from one side to the other.
In addition to recording new fragments of these building blocks of the human body, the researchers also identified DNA fragments at centromeres. Centromeres are located where the arms of the chromosomes are held together in the middle to form an “X” shape.
“Centrome genes are important every time our cells divide and are associated with cancer, growth problems, and infertility,” Miga said.
Conditions such as cancer or Down syndrome affect these parts of the genome, said Eichler, a senior author of one of the studies that published five studies simultaneously in the journal pie. Science.
Thanks to advances in technology, scientists have been able to gather long pieces of the genome that have been found in different parts for the first time. One of the researchers, Michael Schatz, PhD, shares the same. Nearly 2 years ago, it was like adding a cluster of 1,000 pieces where the number of pieces was the same, just like a blue sky. Now that long DNA sequences can be recorded, it’s more like assembling a toddler’s puzzle with large pieces, as well as objects that show blue skies, clouds, and clouds. first.
Asked when new genome information will be used to guide medicine, “It’s here,” said Schatz, a computer science and biology specialist at Johns Hopkins University. in Baltimore, in the short term.
Knowing the different types of genes you have inherited from your parents and the different types of cancer “is very important for management,” he said. “With breast cancer, for example, because of the types of mutations involved, you can get one chemotherapy with another.”
“So we’re seeing this in cancer and other diseases with strong genetic predispositions,” Schatz said.
“There will be a future where our words will be more deeply understood as we communicate with health care providers, helping us to better understand our health and well -being. ”said Eric Green, MD, PhD, director of the National Human Genome Research Institute. .
Comparison and Comparison
Having a complete map of a human genome is something that can be used as a reference and compared with other things.
“One of the biggest testimonials we’ve had about genes and different things in the body is a very simple experimental design. We take in thousands of people who have the disease and the conditions. thousands of people who don’t have the disease and look closely at their genomes, ”Schatz said.
The next step is to consider whether there are more or fewer people with the disease, Schatz said. Success depends on having complete, accurate, accurate knowledge of all kinds, he said.
“By using this complete new genome as a guide, we can now understand how these complex technologies are changing the nature of human traits and diseases, as well as how Nature of the nature of the powers of evolution in human history, ”said Rajiv McCoy, PhD.
New brains will be happy
The new technology will allow researchers to look at long DNA fragments that reveal new information, including in people with breast cancer.
“We’re looking at things that haven’t been seen before,” Schatz said. “I can’t say right now that these new things are the cause…
Even with the availability of medicine, “the most exciting thing to me is that these countries are taking on the genes to make us unique human beings,” Eichler said. About half of the genes give us a larger brain than apes from these countries, for example, he says.
The differences are the fragrance of life?
While 8% may seem like a small percentage, Schatz said, when he and colleagues compared 3,202 genomes in this new guide, they found more than 1 million similar species. zero.
“Now that we’ve set up the first human genome and we’re starting the next 100, we’re starting to see all sorts of … and all sorts of unexpected things. “said Eichler.
The first claim is that there are fewer errors in current experimental evidence and research, said McCoy, an assistant professor of biology at Johns Hopkins University.
Underneath the line, McCoy said, “scientists may find that the genetic mutation that gives common diseases and pathogens to some of these previously hidden territories, can be unlocked. the way for new diagnostics and treatments. “
Looking for a different person
Scientists also plan to sequence hundreds of genomes from people from different nations around the world through the Human Pangenome Reference Consortium. One goal is to compare these genomes by pointing out the genomes to better understand human diversity.
“This implementation will lead to direct and critical discussions about health and participation, and how to continue to build genomic resources that do not come from ignorance and undisclosed, ”Green said. Historically, genetic studies have been criticized for failing to identify the world’s population.
“While the possibilities are endless, there is a lot of work to be done in the future where the benefits of telomere-to-telomere sequencing will be available to all,” Green said.
The timeline for other ways to implement the drug is difficult to predict, McCoy said, but “it’s probably on the scale of the next year or two.”
Green added: “The most interesting thing I know about how it affects health is that this is the medicine of the future, which we believe will one day – and is starting to be made – will doctors use genome sequences to regulate the health care of their patients. “
This is the first step, he said, in giving doctors a “full blueprint review of patients.”
In 10 years, “I want to see this as a routine, for under $ 1,000 a show you can go into a funnel and set up your entire genome to access this drug. proper medicine, ”said Adam Phillippy, PhD, head of the National Human Genome Research Institute’s Genome Informatics Section.
The goal is not just to count the genes, but to observe their function.
“Taking genomic technology to this new place and trying to figure out how they can manage health and disease is a very important task,” Miga said.
“Because people have known about DNA and its importance for a long time, it’s been a great desire to know what the complete gene sequence is, and now we have it for a single genome,” he said. said Schatz.
The larger -than -human photographic effects on all life on Earth, he added.
“I’m very excited about the applications in human health, population analysis, a broader look at the tree of life in plants, animals, viruses, fungi – things all over the world. “