Twenty-one years after a partial first draft of the human genome map was announced—and the media celebrated the project’s “completion”—a group of scientists quietly finished the full map in May, opening new possibilities for medical advances.
“The lack of pomp belies what an achievement this is,” says The Atlantic. “To complete the human genome, these scientists had to figure out how to map its most mysterious and neglected repeating regions.”
The previously unmapped 8% of the genome was no small piece of the puzzle. “They discovered more than 2 million new spots in the genome where people differ,” The New York Times reported. “Using the new genome also helped them to avoid identifying disease-linked mutations where none actually exist.”
Work on the genome has already enabled remarkable feats,explains NIH’s National Human Genome Research Institute, which lists more than 200 exciting projects going back to 2011. Examples from 2020 include:
- Whole-genome sequencing of 13,037 patients, mostly in the UK, to diagnose rare diseases.
- Predicting type 1 diabetes in children.
- Sequencing DNA for 42% of the pregnancies in the Netherlands.
- Population-based genomic screening for actionable genetic conditions.
Understanding the human genome will continue to further genome editing with tools like CRISPR, which can “repair the errors” and mutations in DNA that can cause disease like cancer, says the Cancer Center.
So, what now? “Already, there are patients that have been cured of sickle cell disease using CRISPR,” said Nobel Laureate and CRISPR pioneer Dr. Jennifer Doudna during BIO Digital. “This is where the future lies—in using the technology to treat or frankly even to cure some of the most challenging diseases we face."
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