How Kansas City scientists are helping to expand our understanding of human genetics

By Steve Kraske,

Published May 17, 2023 at 4:48 PM CDT

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A series of chromosomes seen under a microscope. — The Human Pangenome Reference Consortium will make it easier to pinpoint genetic mutations that are responsible for certain diseases.

20 years after scientists finished the sequencing of the first human genome, scientists around the world — including from the Stowers Institute in Kansas City — have taken another monumental step.

Just over 20 years ago, the Human Genome Project sequenced a human genome — the full genetic makeup of a human — for the very first time.

Now, researchers have assembled 94 human genomes in a project called the Human Pangenome Reference Consortium. The goal is to eventually become a collection of as many possible DNA sequences that exists across our species.

The breakthrough is expected to substantially expedite our understanding of genetic diseases, and it has already resulted in new knowledge about a common abnormality connection to infertility and birth defects.

Jennifer Gerton, Ph.D., of the Stowers Institute for Medical Research in Kansas City co-authored a new study on this work.

She joined KCUR's Up To Date to discuss the impact this breakthrough will have on our understanding of human genetics.

Jennifer Gerton, PhD, researcher for the Stowers Institute for Medical Research