Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.
Welcome back to another weekly edition of our roundup of research news from The Children's Hospital of Philadelphia! One of the things that is so exciting about research at CHOP is that our researchers are working to improve the health and lives of children in such a broad range of ways.
Adenovirus, a common human virus that usually affects the lungs and causes respiratory tract infections, is an old friend to virologists. They have long studied how this virus interacts with host cells to understand cellular processes and reveal key regulators of cellular functions.
Christoph Seiler, PhD, received a Foerderer Fund for Excellence award at The Children’s Hospital of Philadelphia in 2015 to study this mechanism. German-born Dr. Seiler pointed out that “Foerderer,” in German, means supporter or sponsor. Its name is therefore apt, because the internal award program spurs research projects that need a bit of support to generate pilot data that can later help those projects stand out in the competitive awarding of external funds.
When something important is missing, we often search for a replacement. After many years of looking, a team of researchers at The Children’s Hospital of Philadelphia and the University of Missouri have found a way to substitute for a missing gene linked to a relentless childhood neurodegenerative disease.
New research from The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania details how a diabetes-related gene functions on a biological pathway that affects the release of insulin.
A CHOP physician discovers a new drug that may change her patients' lives. "It's like the opposite of diabetes." That is the simplest way to explain congenital hyperinsulinism (HI), a rare disease in which the pancreas makes too much of the hormone insulin, causing blood glucose to plummet.