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The University of Chicago Medicine - Comer Children's Hospital

Pediatric Firsts at the Forefront

In 1962, Dr. Janet Rowley, a researcher at the University of Chicago, began to study the chromosomes of patients with leukemia. For the next decade, she labored over the microscope looking for consistent chromosome abnormalities amid the seeming genetic chaos of leukemic cells.

The first such abnormality had just been reported by Peter Nowell and David Hungerford, who found that patients with chronic myelogenous leukemia (CML) had an abnormally small chromosome 22 in their tumor cells, which they labeled the "Philadelphia" chromosome.

The next big step came in the early 1970s when geneticists perfected the art of chromosome "banding," a new way of visualizing segments of chromosomes with great precision. This improved resolution allowed Rowley to discover that chromosomes from leukemic cells not only lost genetic material, they sometimes exchanged it. Early in 1972, Rowley discovered the first such "translocation," an exchange of small pieces of DNA between chromosomes 8 and 21 in patients with acute myeloblastic leukemia.

Later that same year, she found that Nowell and Hungerford's "Philadelphia" chromosome was also the result of a translocation. In patients with CML, a crucial segment of chromosome 22 broke off and moved to chromosome 9, where it did not belong. At the same time, a tiny piece of chromosome 9, which included an important cancer-causing gene, had moved to the breakpoint on chromosome 22. Because of this transfer from one chromosome to another, important genes that regulated cell growth and division were no longer located in their normal position on the chromosome. This provided critical evidence that cancer was a genetic disorder.

Genetics of Diabetes

Dr. Graeme Bell, a researcher in the University of Chicago's Howard Hughes Medical Institute, has dominated genetic studies of type 2 diabetes. In a 1991 landmark paper, the Bell lab mapped MODY1, the gene responsible for an unusual form of early-onset diabetes, to a small region on chromosome 20. This was the first time genetic techniques had been used to determine the chromosomal location of a gene that could cause diabetes. Thus allowing researchers to successfully predict which children from the family would eventually develop diabetes.

In 1992, they found MODY2. Bell and colleagues discovered that mutations of the gene for the enzyme glucokinase caused early-onset type 2 diabetes in a different family.

In 1995, they mapped MODY3 to a specific region on chromosome 12. And, in 1996, Bell and colleagues mapped NIDDM1, the gene responsible for a significant proportion of diabetes in Mexican-Americans, to one end of chromosome 2.

In 2000, in a finding that provided an enormous boost for scientists interested in either diabetes or genetics, a team led by Bell and Nancy Cox identified the major susceptibility gene for type 2 or non-insulin-dependent diabetes mellitus (NIDDM) in Mexican-Americans. The gene pinpointed a new and unexpected biochemical pathway leading to diabetes and suggests novel approaches to prevention, diagnosis, and treatment. This was the first time that a genome-wide approach has successfully led to the identification of a susceptibility gene responsible for a common, genetically complex disorder.

Heart Care

In 2003, Dr. Emile Bacha, former director of pediatric cardiac surgery, performed the first two pediatric robotic mitral valve repairs in the world. He used robotic technology that retains the benefits of laparoscopic surgery for the patient, but provides the surgeon more freedom in operating with precision than standard laparoscopic instruments. That same year, Dr. Bacha performed the first robotic repair of sinus venosus defect.

In December 2005, a team led by Ziyad Hijazi, MD, the former section chief of pediatric cardiology, performed the first trans-catheter pulmonary valve replacement in the United States. Due to scarring from previous open-heart operations, the patient was not a candidate for surgery. This alternative approach required the use of a catheter to insert and place an artificial valve inside the heart. While traditional valve replacement surgery requires opening the patient's chest, stopping the heart and maintaining circulation with cardiopulmonary bypass, this procedure was completed on a beating heart without the use of a heart-lung machine. The patient was awake and alert within a few minutes after the procedure and talking with his parents and nurses.

Maternity Care

Dr. Joseph Bolivar DeLee, called the father of modern obstetrical care, established his maternity facility, the Chicago Lying-in Hospital, at the University of Chicago in 1931. Under his direction, Chicago Lying-in opened one of the nation's first premature infant nurseries, produced the first medical motion pictures and pioneered the study of toxemia in pregnancy.

Liver Transplantation

At the University of Chicago, Dr. Christoph Broelsch performed the first segmental transplant in the United States (1985), the first split-liver transplant (one donor, two recipients) in the United States (1988), and developed the technique for transplantation from a living donor. Broelsch's team performed the first living-donor liver transplant in the United States in November 1989 (which turned out to be the first successful living-donor liver transplant in the world). The University of Chicago was until recently the only center in the country using living liver donors.

In 1993, the University of Chicago Medicine performed the first liver transplant from an unrelated living donor, a close family friend of a 9-year-old boy with cystic fibrosis whose relatives were medically ineligible to donate.

Fluoridation of Water

Dr. J. Roy Blayney, founding director of the University's Zoller Dental Clinic, conducted a 15-year experiment (1946-61) in the Chicago suburbs of Oak Park and Evanston that demonstrated the cavity-fighting ability of fluoride in drinking water and led to the widespread fluoridation of municipal water supplies.