Karen Miga, assistant professor of biomolecular engineering at UC Santa Cruz, was named one of the 100 most influential people of 2022 by TIME. The honor was announced on May 23.
Miga and her colleagues, Adam Phillippy, Evan Eichler, and Michael Schatz, led an international team of scientists — the Telomere-to-Telomere (T2T) Consortium — to complete the first, gapless sequence of the human genome. Parts of the human genome are now available to study for the first time, allowing researchers to better understand genetic diseases, human diversity, and evolution.
The gaps now filled by the new sequence include the entire short arms of five human chromosomes and cover some of the most complex regions of the genome. These include highly repetitive DNA sequences found in and around important chromosomal structures such as the telomeres at the ends of chromosomes and the centromeres that coordinate the separation of replicated chromosomes during cell division. The new sequence also reveals previously undetected segmental duplications, long stretches of DNA that are duplicated in the genome and are known to play important roles in evolution and disease.
Jennifer Doudna, a biochemist and winner of the 2020 Nobel Prize in Chemistry, wrote of her admiration for Miga and T2T Consortium. “The complete human genome sequence is an invaluable resource that may provide new insights into the origin of diseases and how we can treat them. It also offers the most complete look yet at the genetic script underlying the very nature of who we are as human beings.”
Looking forward, Miga and the T2T Consortium have joined with the Human Pangenome Reference Consortium, which aims to create a new “human pangenome reference” based on the complete genome sequences of 350 individuals.
The standard reference genome (GRCh38) does not represent any one individual but was assembled from multiple donors. Merging them into one linear sequence created artificial structures in the sequence. The Human Pangenome Project will make it possible to compare newly sequenced genomes to multiple complete genomes representing a range of human ancestries.
Miga is joined on TIME’s list of the Top 100 Most Influential People of 2022 by Oprah Winfrey, Volodymyr Zelensky, Ketanji Brown Jackson, Mary J. Blige, Emmett Schelling, and many others. The 2022 TIME100 list is chosen by TIME editors.
