More comprehensive human genome marks diversity milestone

Published: Thursday, May 11, 2023 - 4:54pm
Audio icon Download mp3 (1.19 MB)

It’s been a banner month for the human genome and for future hopes of providing personalized medicine, treating diseases and understanding what makes us "us." 

Six Science papers and one Nature paper have taken us closer than ever to a full genetic reference.

Though historic, the first human genome, released in 2001, was based on just 11 people and, due to technical limitations, left out about 8% of the story.

Today, scientists have added Asians, Africans and Americans to the Eurocentric donor pool, and technology has advanced far enough to unravel most of those “highly repetitive regions.”

Much of the genetic dance that differentiates people occurs there, as do processes linked to neurological and developmental disorders, cancers and other diseases.

The Telomere-to-Telomere Consortium and Human Pangenome Project are continuing to refine their techniques and to deepen their bench of donors.