Mutations in single genes can cause catastrophic diseases, such as Huntington's disease or sickle cell anemia. However, many conditions, including cancer, diabetes, and birth defects are multigenic, arising from the collective failure of the function of more than one gene. Researchers know that mutations in at least twelve individual genes are associated with the congenital defect Hirschprung Disease (HSCR), in which children are born lacking nerves that innervate the large intestine. Now two companion studies published in Human Molecular Genetics by Paul Trainor, Ph.D., Investigator at the Stowers Institute for Medical Research, identify a new gene associated with HSCR and show how the migration of cells that form the gut nervous system is impeded when the combined doses of two candidate genes are low. Understanding the genetic basis of HSCR offers hope for better diagnostics and treatment for it and other developmental defects caused by failure of cell migration. The cells that go awry in HSCR are a subset of what are called neural crest cells, embryonic cells that spring from the developing brain and spinal cord in mice or humans and then travel long distances to form, among other structures, structures in the face and heart, smooth muscle, and neurons of the peripheral nervous system, including those that innervate the gut. Dr. Trainor has been interested in neural crest cells since he was a graduate student, often focusing on developmental defects caused by their malfunction. "Neural crest cells have to be born in the right place, migrate an incredibly long distance, survive the migration, multiply and then differentiate into a mature cell type," says Dr.
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