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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.
Dr. Rowley's research provided critical evidence that cancer was a genetic disorder.
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.
Dr. J. Roy Blayney, founding director of the University of Chicago'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.
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).
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.
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, which allowed 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 Dr. 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.
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 to operate with precision than with standard laparoscopic instruments. That same year, Dr. Bacha performed the first robotic repair of a sinus venosus defect.
In December 2005, a team led by Dr. Ziyad Hijazi, 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.
Building on the long tradition of excellence in pediatric care at the University of Chicago Medicine, Comer Children's physicians, surgeons and medical staff have set new standards of care for kids since the facility opened in 2005.
December 2005: First trans-catheter pulmonary-valve replacement in the United States
Justin Reaves desperately needed a new heart valve, but scar tissue from previous operations ruled out the possibility of open surgery. Our surgeons implanted a replacement valve through a catheter inserted into his groin and then threaded it up into his heart, giving the 16-year-old a new lease on life.
March 2006: Youngest beneficiary of innovative "Nuss" procedure
A deformity was constricting a toddler's lung capacity, putting pressure on his heart and leaving him short of breath. To correct the condition, a surgical team at Comer Children's implanted a curved steel bar into the 17-month-old's rib cage.
February 2008: World's first pediatric robotic bladder reconstruction
When 10-year-old Aaliyah Dellar needed surgery to rebuild her severely undersized bladder, surgeons used robotic tools — performing the operation through five dime-sized incisions. This approach minimized scarring, accelerated recovery time and lowered the risk of infection when compared to a traditional, open procedure.
August 2012: Youngest patient to receive Fecal Microbiota Therapy (FMT)
Grant Fisher had been battling drug-resistant Clostridium difficile (a type of bacteria) for months when physicians at Comer Children's "transplanted" microbes from Grant's mother into the little boy's colon. After the procedure, 18-month-old Grant rapidly recovered from the potentially deadly infection.
November 2012: First haplo-cord stem cell transplant
To extend the pool of patients who qualify for potentially lifesaving stem cell transplantation, our physician-scientists refined purification techniques that allow cells from a half-matched donor (such as a parent) to be combined with umbilical cord blood from a well-matched, but unrelated donor. In 2011, Comer Children's became the first children's hospital in the nation to offer the procedure.
April 2014: First child in Illinois to receive MIBG therapy
After surgery, chemotherapy and a stem cell transplant all failed to get Sammy Nahorny into remission, the 6-year-old received an innovative treatment for neuroblastoma. Sammy was isolated in a lead-lined room while a team administered intensive MIBG therapy, which destroys tumor cells while leaving healthy tissue intact.
UChicago Medicine helps pioneer CAR T-cell therapy
Research at the University of Chicago Medicine and its Comer Children's Hospital played a key role in the development of CAR T-cell therapy, an innovative immunotherapy for advanced blood cancers. CAR T-cell therapy supercharges a patient’s white blood cells to seek out and destroy cancer cells.
Select medical centers in the United States, including UChicago Medicine, led clinical trials of this new treatment for leukemia and lymphoma. After promising — and, in some cases, remarkable — results in adults and children, the FDA approved CAR T-cell therapy in the summer of 2017 for the treatment of specific types of these blood cancers.
In the fall of 2017, UChicago Medicine became the first site in the country to be certified to provide the adult and pediatric CAR T-cell therapies, approved by the FDA, for treating specific types of blood cancers.