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.
The Teachey Lab studies perturbations in leukemic cell signal transduction pathways with the aim of identifying targeted cancer inhibitors and immunotherapies that can treat children with high-risk leukemias and autoimmune lymphoproliferative syndrome.
The research in the Sabatino Laboratory is focused on the inherited bleeding disorder, hemophilia. The interests of the laboratory include the study of variants of coagulation factor VIII to understand the biochemical properties of these proteins and to identify novel variants with enhanced function, and the development of gene-based therapeutic approaches for treating hemophilia.
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.
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.