A collaborative team of scientists and physicians at the Medical College of Wisconsin and Children's Hospital of Wisconsin uses genetic sequencing to identify and treat an unknown disease.
For the one of the first times in medical history, researchers and physicians at The Medical College of Wisconsin and Children's Hospital of Wisconsin sequenced all the genes in a boy's DNA to identify a previously-unknown mutation. The team was able not only to identify the mutation, but to develop a treatment plan using a cord blood transplant, and stop the course of the disease.
This accomplishment is published in the December 19, 2010 online edition of Genetics in Medicine http://journals.lww.com/geneticsinmedicine/pages/default.aspx Making a Definitive Diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Lead authors are Elizabeth Worthey, Ph. D., and Alan N. Mayer, M.D. Ph.D. Collaborators at Children's Hospital and the Medical College are David A. Margolis, M.D., James Verbsky, M.D., Ph.D., Howard J. Jacob, Ph. D., and David Dimmock, M.D.
At the age of 3, Nicholas Volker of Monona, Wisconsin, had already endured more than 100 surgeries, but was progressively getting sicker. His intestines continued to swell and more abscesses formed, and doctors concluded they were dealing with an unknown cause of disease.
Dr. Alan D. Mayer, assistant professor of Pediatrics at the Medical College, and pediatric gastroenterologist with Children's Hospital, decided to look for the genetic source of the disease.
"Exhaustive efforts to reach a diagnosis revealed numerous abnormalities in Nick's immune system, but none pointed to a specific disease," Dr. Mayer explained. "So we decided the next logical step was to sequence his entire exome."
Researchers examined all 20,000 o
|Contact: Maureen Mack|
Medical College of Wisconsin