Photo by Robert Boston Elaine Mardis

North Platte native Elaine Mardis is one of 14 “cutting edge researchers” featured in the August issue of U. S. News and World Report magazine.

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Mardis, a 1980 NPHS grad, is the daughter of Boyd and Jan Gentry of North Platte.

Entitled “Pioneers of Medical Progress,” the article considers what $10 billion in stimulus funds might do for the nation’s research labs.

Mardis is definitely interested. Along with Richard Wilson, she is co-director of The Genome Center at Washington University School of Medicine in St. Louis.

At WU, Mardis oversees the technology used to produce DNA sequencing data -- lightning-fast, half-million-dollar machines. Under her guidance, the university has become a world leader in rapid-genome sequencing.

To do that, Mardis had to study engineering, molecular biology, enzymology, optical engineering, computer science and nanotechnology.

“When you start to think about all the different components that go into the technology and that actually have to talk to each other in a systematic way…well, it’s a minor miracle that it all works,” she said in a 2008 Washington University interview.

Human Genome Project

Mardis’s Genome Center was one of five primary sites that contributed data to the Human Genome Project.

The 16-year project included sequencing the exact order of the 3-billion chemical building blocks of human DNA.

Considered the greatest technical challenge, sequencing was completed in 2006.

Last fall, Mardis and Wilson gained the attention of the science community when they sequenced the complete genomes (tumor and normal) of a patient with acute myeloid leukemia, a deadly blood cancer.

Only eight people have had their genomes fully sequenced. It takes hundreds of thousands of dollars to decipher a human genome.

But, by comparing the fully sequenced cells, they revealed AML-related mutations.

Up to the challenge

The two biochemists almost didn’t get the job done. In 2006, their grant from the National Institute of Health was running out. The NIH refused further funding, citing the expense of a project with uncertain results.

But they found “a funding angel” and eight months later had identified 10 somatic mutations that are unique to the tumor genome. They have since completed the process on a second patient, increasing the data.

They plan to continue, focusing on leukemias and breast and lung cancers. How many variations exist is still a mystery.

But, using their information, pharmaceutical labs may be able to design molecules to match specific mutations and switch off cancer cells.

It’s a scientific leap, but Mardis and Wilson are going for it.

Answering the call of technology

Mardis’s interest in science started early, inspired by her father. Boyd Gentry taught chemistry, first at North Platte’s Adams Jr. High School and then for 30 years at North Platte Community College.

Mardis attended the University of Oklahoma, where both she and Wilson did graduate work under Dr. Bruce Roe, one of the few U.S. scientists proficient in genome sequencing.

Mardis mastered the technique, then time-consuming and laborious. The lab was also among the first to receive an automated genome sequencer. It wasn’t much faster, but the technology hooked her.

“Rather than get frustrated, Mardis became a technological pioneer,” the WU interview said. “She was part of the first generation of scientists who used ingenuity and resourcefulness together with the technology necessary to make the automated DNA sequencing feasible.”

When Mardis finished her doctorate in 1989, funding was focused on developing the physical maps of genes.

“I wasn’t interested in that kind of work or trained to it,” Mardis said in the interview. She moved to a laboratory in California to work on improving DNA technology.

In 1993, Wilson was at WU when the university received a multi-million dollar grant for genome sequencing. Realizing they had to speed up the process, Wilson called on Mardis.

Admiration from DNA pioneer

The first break-through in DNA research came in 1953. The discovery of the double helical structure of DNA by James Watson and Francis Crick won a Nobel Prize.

Watson is a fan of Mardis and Wilson’s efforts, as well as a personal friend.

He has reason to support them. Watson is one of the eight human genomes that have been fully sequenced. The sequencing showed a mutation that limited his blood pressure drug, so he found a drug that is more effective, according to U.S. News and World Report.

“The money is well spent,” he said.

Mardis averages three trips a month, she said, mostly speaking engagements as far away as Malaysia, but she will be closer to her hometown next month. She is a keynote speaker at the 2009 Nebraska Research and Innovation Conference in September at the Qwest Center in Omaha.

Discussing DNA over doughnuts

Dr. Elaine Mardis met Nobel Prize winner James Watson years ago in New York, she said. Watson, 81, is the only living early pioneer of DNA research.

“I have taught a course in sequencing for many years at Cold Spring Harbor where Jim lives and works,” Mardis said in an email. “Our course used to be in the bottom floor of the building where his office is, and he would drop down to have a donut (half, frosted with sprinkles) and a cup of coffee around 10:30 every morning.”

“I used to be just petrified -- Jim is very direct and if you said anything not well-reasoned (e.g. stupid), he would let you know,” she said. “Eventually, we got to know each other, and he has been a great friend to me. He agreed to write a letter to support my tenure at WU, and recently he agreed to write a forward for a journal issue that I am editing, on personal genomes. I generally look to him as a barometer of scientific vision, and he is rarely wrong.”