The Human Genome Project has been billed as the biological sciences’ “moonshot.” Funded largely by the National Institutes of Health, the 13-year, $3 billion international scientific collaboration to map the human genome wrapped up in 2003. It provided new insights into the genetic bases of diseases, facilitated the growth of personalized medicine (where treatments are customized to an individual’s genetic makeup), and greatly expanded our understanding of evolution, to name but some of its accomplishments.

Its designation as among the most important scientific endeavors of all time is not diminished by that fact that this map of the human genome—some 3.2 billion nucleotide base pairs forming the “rungs” of our DNA “ladder”—had gaps and was only 90% complete. It was essentially a draft. The sequencing technology and software of the day were just not up to the job, particularly where sequences were repetitive and challenging to place in order. Several Hopkins scientists worked on this project, but the university had an even larger role in its follow-up, the largely NIH-funded collaborative effort that completed the genomic map in 2022. In those intervening years, Hopkins scientists corrected thousands of earlier sequencing errors, discovered over 100 new genes that can create proteins, and helped develop the advanced tools and programs that make sequencing faster and more accurate.

Thirteen Hopkins researchers were part of this international project, called the Telomereto-Telomere consortium, referring to a section of repeating DNA at the ends of each chromosomal sequence.

“Once you build the complete genomic map, the human blueprint, you can study how changes across the genome are important for different diseases,” says Bloomberg Distinguished Professor of Computational Biology and Oncology and Malone Center member Michael Schatz, who worked on the project. “I’m currently involved in a study where we’re using these technologies to study pancreatic cancers. We’re finding things that are only possible because of this new genome and these new technologies. So, in a variety of different diseases and traits, that last 10% is proving to be incredibly important.”

Excerpted from Johns Hopkins Magazine »

Illustration by John S. Dykes.