Charles A. Stanley

In This Section

Charles A. Stanley, MD

Attending Physician

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.

AddtoAny

Bio

Dr. Stanley is a pediatric endocrinologist whose career over the past 40 years has focused on translational and basic research related to disorders of insulin secretion in infants and children.

He described the standard methods for diagnosis and treatment of infants with hyperinsulinism and has helped identify the major genetic loci for hyperinsulinism, including the important mutations of the KATP channel (ABCC8, KCNJ11, GCK, GLUD1). Along with his colleagues, Dr. Stanley has explored the implications of these discoveries working with transgenic and knock-out mouse models, including SUR1 and SCHAD knock-out models and the activating H454Y-huGDH transgenic mouse.

Dr. Stanley, whose research has been funded for the past 20 years by an NIH MERIT Award, has identified mutations in more than 500 probands with congenital hyperinsulinism, analyzed genotype-phenotype relationships in these patients, shown that hyperinsulinism in Beckwith-Wiedemann syndrome is due to isodisomy for the paternal 11p chromosome and loss of expression of the beta-cell KCNQ1 potassium channel, and showed that the frequency of hyperinsulinism is increased in Turner syndrome due to loss of an autosomal X-chromosome gene.

In addition, Dr. Stanley's research led him to show that genetic testing can identify which infants with hyperinsulinism have potentially curable focal lesions and shown that F-DOPA PET scans can be used to accurately localize these lesions for surgical resection.

Dr. Stanley has also co-authored the international recommendations for the diagnosis and treatment of hypoglycemia disorders in childhood.