Dr. Howard Jacob, Warren Knowles professor and director of the Human & Molecular Genetics Center, Medical College of Wisconsin

Dr. Howard Jacob and other doctors at the Medical College of Wisconsin were the first in the world to map the sequence of the DNA of a human being and use the information to make a diagnosis and treatment plan.

The work saved the life of 6-year-old Nicholas Volker.

“This remarkable accomplishment was highlighted by the director of the NIH (National Institutes of Health), Francis Collins, who singled out the Medical College of Wisconsin’s pioneering work in DNA sequencing during his May 11 testimony to a U.S. Senate sub-committee on the NIH budget,” said Pam Garvey, associate vice president of the Medical College of Wisconsin, who nominated Jacob for a Health Care Hero Award.

For most of his life, Volker had suffered from a mysterious disease that baffled doctors, who were unable to diagnose his condition. Many times it seemed that Nicholas was near death.

The disease caused tiny holes to form in Nicholas’ skin. The holes extended into his intestines causing his stool to leak into his body. That resulted in numerous health problems for the boy.

When Nicholas was 4, doctors removed his colon. His health improved for a while, but then started to fail again.

Doctors at Children’s Hospital of Wisconsin asked Medical College of Wisconsin researchers to sequence Nicholas’ genes to see if he had a mutation.

The gene sequencing worked. Doctors found a mutation in Nicholas’ DNA. They gave him a blood transplant to essentially give him a new immune system.

Although he suffered through some complications, Nicholas has made progress, and his health has improved dramatically.

Nicholas’ case may give hope to others with mysterious ailments that a cure could be found through DNA sequencing.

“Nic continues to do well almost a year later,” Garvey said.

The groundbreaking case has received international acclaim, and Jacob is being asked to share his insights around the world.

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