The Medical College of Wisconsin has received a two-year, $454,626 grant from the National Institute of Child Health and Human Development to develop a screening test for DiGeorge Syndrome type 1, a pediatric disorder that is caused by the deletion of genetic information. The study has ramifications in early diagnosis and medical intervention for prevention and treatment of this common genetic disorder, which occurs in one per every 4,000 live births.
William J. Grossman, M.D., Ph.D., assistant professor of pediatrics in the divisions of hematology and oncology and allergy and clinical immunology, is principal investigator for the grant.
DiGeorge Syndrome encompasses a wide range of clinical disorders, including congenital heart defects, learning difficulties, endocrine and kidney abnormalities, and immune system defects. Because of the wide range of clinical disorders that DiGeorge Syndrome contributes to, its diagnosis is often delayed.
Dr. Grossman will work to identify the boundaries of the genetic deletion and to develop a more sensitive and cost-efficient screening test for DiGeorge Syndrome.
