Connecticut Children’s endocrinology faculty and fellows are actively involved in a broad scope of research.

Center for Rare Bone Disorders

Established by Emily Germain-Lee, MD, our Center for Rare Bone Disorders is home to the Albright Center, the first and only center in the world dedicated to Albright hereditary osteodystrophy (AHO). Our center for Osteogenesis Imperfecta (OI), or brittle bone disease, also falls under the center’s umbrella. A major goal of the Center for Rare Bone Disorders is to care for the patients who suffer from these conditions and to develop new therapeutic strategies via research.

Recent work includes collaborative research on an experimental molecule to test its effects in mice sent to the International Space Station (ISS) on Space X-19, which may have implications for preventing muscle and bone loss that is known to occur in astronauts during space travel as well as the potential for helping patients with bone fragility. Learn more about the Center for Rare Bone Disorders.

Advancing Care of Diabetes

The diabetes program specialists at Connecticut Children’s are continuously researching better ways to manage pediatric diabetes and eventually find a cure.

Cem Demirci, MD, Director of the Diabetes Program, is working with Dr. Derya Unutmaz, a researcher from The Jackson Laboratory to explore the intestinal microbiome and the link between the foods we eat, the microbes we host, and diabetes. The next phase of this research will focus on which genes are turned on and off as a result of this microbiome and immune system interaction. He is also actively involved in clinical research with Type 1 Diabetes.

Emily Germain-Lee, MD, is collaborating with The Jackson Laboratory/UConn Health investigator Dr. Se-Jin Lee on a research program aimed at discovering new strategies to improve the body’s ability to control blood sugar levels. This project, partly supported by a grant from the NIH, focuses on understanding the roles of the secreted proteins that belong to the transforming growth factor-β superfamily of signaling molecules in regulating pancreatic development and function as well as other tissues that play important roles in glucose control. Their goal is to develop methods of manipulating the activities of signaling molecules to treat diabetes.

Glycogen Storage Disease Program & Disorders of Hypoglycemia Program

Rebecca Riba-Wolman, MD, Clinical Director of Endocrinology and Diabetes, is the lead of the largest collaboration site for the world’s first glycogen storage disease human gene therapy clinical trial. This work was started by David Weinstein, MD, MSc, and was launched at University of Connecticut Health Center in July 2018—an advance 20 years in the making, and thus has yielded promising results. Her research extends to other forms of hypoglycemic disorders, both acquired and congenital.