|Milwaukee Journal Sentinel Launches Breakthrough DNA Gene Sequencing Series|
MILWAUKEE, December 20, 2010 –Yesterday, the Journal Sentinel began a 3-part series documenting an important medical breakthrough at the Medical College of Wisconsin. The series tells the story of how Dr. Howard Jacob, Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin, and pediatric specialist Dr. Alan N. Mayer and other doctors at Children’s Hospital of Wisconsin, were able to diagnose a new disease by sequencing a child’s DNA. This is among the first times this groundbreaking gene sequencing approach has been used to diagnose disease. An article written by Dr. Elizabeth A. Worthey, Mayer, Jacob and others about this gene sequencing breakthrough will appear in the medical journal Genetics in Medicine.
Journal Sentinel Medical Reporter Mark Johnson, Biotech Reporter Kathleen Gallagher, and Photojournalist Gary Porter spent nearly a year following the story of a 4-year-old boy who was severely malnourished and suffering from a mysterious digestive ailment that was eating away at his intestines. After multiple tests, treatments and more than 100 trips to the operating room, the Medical College of Wisconsin sequenced the boy’s entire exome (all of the protein-coding parts of the genome), a process that took several months. The Medical College saved on costs when Roche’s 454 Life Sciences division ran the first of five sequencing runs for free. Worthy and her team also developed a new software tool, Carpe Novo, to sift through the mountains of variations and ultimately help find the single mutation causing the boy’s disease.
Said Martin Kaiser, editor and senior vice president of Journal Sentinel, “Mark Johnson, Kathleen Gallagher and Gary Porter’s dedication to following this complex and important story demonstrates our commitment to covering in-depth stories vital to our community. The Medical College didn’t anticipate using DNA sequencing for diagnosis for five years, but this leap could dramatically change how the technology is used to diagnose individuals in the future. Our story also illustrates in a very accessible way how gene sequencing works, and in this case, how it led to a diagnosis and a treatment.
“The story also tells the touching journey of the boy and his family. The answers uncovered by DNA sequencing were complex and the information difficult to handle. The boy’s single mutation turned out to cause not only the new disease, but a second very rare illness which affects just 400 children in the world, all boys. We are proud of the great work our team did to follow a story that was critically important to this family but also important to our community, to the Medical College and to Children’s Hospital.”
The story is already receiving national attention. NBC’s Today Show, in a special segment which aired today, interviewed the family and the doctors. For additional coverage of the Journal Sentinel investigation, including video footage of the boy and his family, please visit http://http://www.jsonline.com/dna.
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