Diagnosing a Diagnostic Odyssey

Only 15 years ago, a small child was suffering from an unknown and seemingly incurable disease. At four years old, he had already been subjected to over 100 surgeries and the surgeons were just trying to delay what was thought to be inevitable. A team of geneticists and bioinformaticians at the Medical College of Wisconsin made the groundbreaking decision to attempt to sequence the boy’s entire genome in an attempt to find the needle in that haystack that might be the cause of his life-threatening ailment. In this session, we will use hands-on tools to better understand the science behind this scientific breakthrough that earned the “Milwaukee Journal-Sentinel” the Pulitzer Prize and ushered in the new and promising world of genomic medicine.