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General pediatric endocrinologist with a special interest in growth disorders including Turner Syndrome, and diabetes mellitus
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MassGeneral Hospital for Children
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My laboratory was the first to describe the use of alternative substrates to glucose by the neonatal primate brain, and to document gluconeogenesis in fetal life. We now have worked on modulating transcription factor function in the pancreatic beta cell in order to reconstruct the beta cell in other cell types. We developed a “superpromoter” transcription factor which enhances action in cell types cognate with beta cells.
My major clinical research work focuses on the continuation of the TODAY study, an NIH-funded trial of treatments for type 2 diabetes in children and Adolescents. We have demonstrated that the “fat paradox”, the protective effect of obesity on complications of diabetes, extends to retinopathy in the young. The mechanism of this effect is presently being examined. The patients in this trial are being followed into adulthood so that the natural history of type 2 diabetes in young people can be elucidated. We also will be participating in studies of long-acting growth hormone products in children with growth hormone deficiency. Learn more about research at the Pediatric Endocrine Program and Diabetes Center.
View my most recent publications at PubMed
Rosie Mahoney has Turner syndrome, but doesn't let it stop her from dreaming big. With help from the Turner Syndrome Clinic at MassGeneral Hospital for Children, Rosie develops the skills she needs to achieve her dreams.
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