Newswise — While the Telomere-to-Telomere (T2T) Consortium was heralding "the first truly complete assembly of a human genome," University of California, Santa Cruz Assistant Research Scientist Karen Miga, the preprint’s lead author who also was named as one of Nature's 10 people who shaped science in 2020, prepared for a thrilling new chapter in her life -- her promotion to Assistant Professor at the Jack Baskin School of Engineering and promotion to an Associate Director at the UC Santa Cruz Genomics Institute. 

“I'm excited that the Miga Lab will officially have a home in the Biomolecular Engineering Department at UCSC, and I am honored to join the UCSC Genomics Institute as an Associate Director,” Miga said. 

UC Santa Cruz Genomics Institute Scientific Director David Haussler explained that  Karen’s leadership role in the T2T Consortium — a scientific collaboration that seeks to fully sequence and assemble the human genome — helped lead to this truly historical milestone. “The first complete human genome. This is history being made! We are incredibly fortunate to have Karen at Santa Cruz, and we look forward to more remarkable news in the future coming from the new Miga Lab.”

Dean Alexander Wolf of the UC Santa Cruz Baskin School of Engineering, echoed Haussler’s sentiments. He said of the T2T preprint titled “The complete sequence of a human genome,” “This is big. And we are so very happy to welcome Dr. Miga to the Baskin Engineering faculty in Biomolecular Engineering.” 

When the Human Genome Project shared the first draft sequence of the human genome more than 20 years ago, it was as much as 15% incomplete. Many experts thought that the remaining genetic material was less consequential. It appeared to be largely devoid of information because it was so repetitive that the technology at the time could not reliably read it.

As Miga told STAT in 2017, while most scientists thought these complex repeating regions were nonfunctional, her instincts told her otherwise. “Decades later, we now know that these regions have significant functions.” In fact, some of them contribute to some forms of cancer, “so something is going on in these regions that’s important.”

Miga was just getting started in her academic career when the completion of the Human Genome Project was announced. After earning degrees at University of Tennessee and Case Western Reserve University, Miga moved to Duke University, where she worked in genetics and genomics. Her doctoral research was supervised by the well-known human genetics expert Huntington Willard. 

In 2012, Miga joined Haussler’s laboratory at UC Santa Cruz. At UCSC, Miga combined computational and experimental approaches to reveal complex, previously unseen parts of the human genome and eventually created the T2T consortium, which she co-leads with Adam Phillippy of the National Human Genome Research Institute. She went on to direct the Human Pangenome Production Center, collaborating with an international team that includes Baskin Engineering faculty and Genomics Institute Associate Director Benedict Paten and Haussler to sequence a large collection of human genomes as a definitive reference resource for science and medicine. These accomplishments have brought her international renown.

“It is my dream to better understand the biological role of the complex, repeat-rich and largely unexplored parts of our genome: their genetic and epigenetic organization, how these sequences change over time, and how they contribute to human disease,” Miga explained. “Fortunately, with recent technological advances we can read parts of the genome we never could before, making this a very exciting time for human genetics.”

“One of the best parts of this new position is the opportunity to expand my team and mentor new undergraduates, grad students and postdocs, and so I invite those interested to please reach out.”

Miga’s research makes use of long-read sequencing strategies invented and developed at UC Santa Cruz by David Deamer and associates including Mark Akeson and Miten Jain in the Nanopore Group. This technology is marketed by Oxford Nanopore Technologies as the MinION DNA sequencer, which analyses DNA by detecting changes in current flow when DNA passes through tiny holes in a membrane.

In her role as leader of the Human Pangenome Production Center, Miga will sequence roughly 350 complete genomes to build the first pangenome reference map of human genetic variation. The purpose of this map is to provide a new, much more complete and accurate representation of human genetic diversity for science and medicine. The current reference human genome used in medicine comes mostly from a single individual and thus is not adequate as a representation of global human genetic diversity. A diversified genome reference will offer better support for more socially just genomic science and medicine, including the extension of personalized therapeutics to patients from all corners of the globe.