Research
In 2003, the National Institutes of Health began a research initiative including the creation of a Rare Diseases Clinical Research Network, including 10 consortia studying more than 50 rare diseases. The Urea Cycle Disorders Consortium, under the direction of Mark Batshaw, M.D. at Children's National Medical Center, and in combination with eight other academic centers, began longitudinal studies of the urea cycle disorders. There has also been a recent explosion of research involving the connection between urea cycle disorders and other major diseases or disorders, such as cancer, AIDS, autism, and sickle cell anemia.
Researchers have found at least two major areas of interest in relation to urea cycle disorders. The first connection involves changes in urea cycle enzyme production in cancer patients with bone marrow transplants undergoing chemotherapy. Because the production of urea cycle enzymes takes place in the liver, drugs toxic to the liver, such as those used in chemotherapy, are observed to be causing changes in the urea cycle. Thus, these bone marrow transplant patients are developing the same accumulation of ammonia (hyperammonemia) seen in children with urea cycle disorders. Another study has found changes (polymorphisms) in these enzymes in large populations. This raises questions as to the significance of these variations on the overall health of the individual.The second connection relates to the drugs that were developed through the Orphan Drug Act for treating the children with of urea cycle disorders. These drugs, pioneered by children with urea cycle disorders, are now being used in Phase II clinical trials at major cancer research institutions across the nation. The drugs appear to halt the production of cancer cells in numerous cancers, including melanoma and lymphoma.
Other large research institutions are now looking at urea cycle disorders, a previously limited disease, as a new key to developing treatments in other areas of medicine. This new interest will bring more resources to bear for urea cycle research, and our ultimate goal of a cure for the children suffering from these devastating disorders.
Recent advancements in technologies such as tandem mass spectrometry have made it possible to screen all newborns for argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase, and arginase deficiency. Research into screens for OTC and CPS deficiencies has been initiated. We believe that comprehensive newborn screening will help prevent brain damage and other severe consequences of delayed diagnoses and save children’s lives.
Read more about this topic: Urea Cycle Disorder
Famous quotes containing the word research:
“It is a good morning exercise for a research scientist to discard a pet hypothesis every day before breakfast. It keeps him young.”
—Konrad Lorenz (1903–1989)
“Feeling that you have to be the perfect parent places a tremendous and completely unnecessary burden on you. If we’ve learned anything from the past half-century’s research on child development, it’s that children are remarkably resilient. You can make lots of mistakes and still wind up with great kids.”
—Lawrence Kutner (20th century)
“The great question that has never been answered and which I have not get been able to answer, despite my thirty years of research into the feminine soul, is “What does a women want?””
—Sigmund Freud (1856–1939)