DNA sequencing of sick children reinforces Wisconsin work

Mark Johnson:

Researchers at Duke University have given a powerful new demonstration of the gene sequencing technique used successfully in Wisconsin to diagnose and treat Nic Volker, the young boy from Monona who suffered from a never-before-seen intestinal disease.
The team at Duke worked for more than two years, sequencing a dozen children with different unknown diseases. By sequencing all of their genes, researchers were able to reach a likely genetic diagnosis for half of the children, according to work detailed in the Journal of Medical Genetics.
The Duke study bolsters what Nic’s doctors at the Medical College of Wisconsin and Children’s Hospital of Wisconsin have been saying since his landmark case in 2009: The sequencing of our genetic script can solve the riddle of some unknown illnesses, giving hope to families who have spent thousands of dollars and sought numerous medical opinions without success.
“I am absolutely convinced that in the setting of undiagnosed illnesses in children it is incumbent on the health care system to provide this kind of sequencing,” said David B. Goldstein, a professor of genetics at the Duke University School of Medicine, who worked on the new study.